Incidental Mutation 'R1785:Pkd1'
ID 196440
Institutional Source Beutler Lab
Gene Symbol Pkd1
Ensembl Gene ENSMUSG00000032855
Gene Name polycystin 1, transient receptor potential channel interacting
Synonyms polycystin-1, PC-1, PC1
MMRRC Submission 039816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1785 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24768808-24815482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24810073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3558 (V3558A)
Ref Sequence ENSEMBL: ENSMUSP00000049296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000227058] [ENSMUST00000228581]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035565
AA Change: V3558A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: V3558A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRRNT 32 71 1.61e-8 SMART
LRR_TYP 90 113 2.47e-5 SMART
LRRCT 125 177 3.84e-12 SMART
WSC 177 271 6.93e-34 SMART
PKD 272 355 2.72e-15 SMART
CLECT 406 530 5.72e-20 SMART
low complexity region 545 558 N/A INTRINSIC
low complexity region 763 788 N/A INTRINSIC
PKD 930 1008 1.06e-8 SMART
PKD 1015 1119 2.26e-12 SMART
PKD 1122 1205 2.03e-14 SMART
PKD 1208 1288 1.14e-17 SMART
PKD 1290 1373 2.35e-10 SMART
PKD 1374 1459 7.63e-10 SMART
PKD 1464 1541 1.95e-16 SMART
PKD 1544 1625 1.05e-16 SMART
PKD 1631 1714 1.93e-1 SMART
PKD 1716 1798 2.21e-15 SMART
PKD 1799 1882 5.7e-9 SMART
PKD 1884 1964 1.56e-6 SMART
PKD 1968 2056 3.1e-10 SMART
PKD 2057 2140 1.74e-13 SMART
Pfam:REJ 2167 2610 1e-108 PFAM
low complexity region 2697 2706 N/A INTRINSIC
GPS 3003 3052 1.33e-12 SMART
transmembrane domain 3065 3087 N/A INTRINSIC
LH2 3110 3224 3.5e-18 SMART
transmembrane domain 3275 3294 N/A INTRINSIC
transmembrane domain 3314 3336 N/A INTRINSIC
low complexity region 3357 3378 N/A INTRINSIC
low complexity region 3479 3492 N/A INTRINSIC
transmembrane domain 3547 3569 N/A INTRINSIC
low complexity region 3573 3591 N/A INTRINSIC
low complexity region 3626 3639 N/A INTRINSIC
low complexity region 3661 3676 N/A INTRINSIC
Pfam:PKD_channel 3701 4103 7.1e-125 PFAM
low complexity region 4153 4172 N/A INTRINSIC
low complexity region 4238 4256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097373
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

DomainStartEndE-ValueType
Pfam:DUF3384 54 470 4e-103 PFAM
Pfam:Tuberin 555 903 5.9e-149 PFAM
low complexity region 1023 1054 N/A INTRINSIC
low complexity region 1271 1278 N/A INTRINSIC
low complexity region 1310 1328 N/A INTRINSIC
low complexity region 1330 1344 N/A INTRINSIC
low complexity region 1378 1398 N/A INTRINSIC
Pfam:Rap_GAP 1497 1685 1.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116692
Predicted Effect probably benign
Transcript: ENSMUST00000226284
Predicted Effect probably benign
Transcript: ENSMUST00000227058
Predicted Effect probably benign
Transcript: ENSMUST00000227107
Predicted Effect probably benign
Transcript: ENSMUST00000227836
Predicted Effect probably benign
Transcript: ENSMUST00000228581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228750
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]
Allele List at MGI

All alleles(32) : Targeted(28) Gene trapped(3) Chemically induced(1)

Other mutations in this stock
Total: 243 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G A 14: 118,790,761 (GRCm39) R749C probably damaging Het
Acot11 T C 4: 106,619,232 (GRCm39) E201G probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aldh4a1 T C 4: 139,371,439 (GRCm39) V451A probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asb6 G A 2: 30,717,088 (GRCm39) R46W probably damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Cad T A 5: 31,215,416 (GRCm39) F76I probably damaging Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn11 A G 17: 45,949,623 (GRCm39) S448P probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cbx5 G A 15: 103,121,551 (GRCm39) R29C probably null Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Ccn4 G A 15: 66,778,338 (GRCm39) C53Y probably damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cfh T C 1: 140,064,526 (GRCm39) K374R probably benign Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Cntnap5c A G 17: 58,469,286 (GRCm39) I623V probably benign Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crocc T C 4: 140,749,113 (GRCm39) D1564G probably damaging Het
Csf1r A T 18: 61,262,149 (GRCm39) M802L probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Daxx T C 17: 34,130,816 (GRCm39) I277T probably damaging Het
Dctn4 T C 18: 60,679,407 (GRCm39) probably null Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dnah5 A G 15: 28,313,932 (GRCm39) Q1916R probably damaging Het
Dnah8 T C 17: 30,941,911 (GRCm39) V1719A probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
En1 A G 1: 120,531,350 (GRCm39) S197G unknown Het
Enah A T 1: 181,783,994 (GRCm39) M105K unknown Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Eya1 A G 1: 14,241,198 (GRCm39) V573A probably benign Het
Faim2 A G 15: 99,410,423 (GRCm39) L235P probably damaging Het
Fam221b T A 4: 43,665,537 (GRCm39) H307L probably damaging Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A G 1: 130,732,306 (GRCm39) R98G probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Foxn4 C T 5: 114,401,193 (GRCm39) D37N probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm10563 C T 4: 155,720,337 (GRCm39) probably benign Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gper1 C T 5: 139,412,477 (GRCm39) P274L probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Grm7 G C 6: 111,335,256 (GRCm39) D556H probably damaging Het
H2-K2 C A 17: 34,216,322 (GRCm39) E275* probably null Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,019 (GRCm39) probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kmt2a G A 9: 44,730,972 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lhx6 G T 2: 35,977,470 (GRCm39) C327* probably null Het
Lifr A G 15: 7,211,337 (GRCm39) D625G possibly damaging Het
Lman1 A T 18: 66,124,653 (GRCm39) M362K probably damaging Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpin3 T A 2: 160,738,729 (GRCm39) L227* probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mnx1 T A 5: 29,679,187 (GRCm39) S299C unknown Het
Mov10 A T 3: 104,725,432 (GRCm39) I59N possibly damaging Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Myo7b T C 18: 32,127,950 (GRCm39) I581V probably benign Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ncdn T A 4: 126,639,066 (GRCm39) probably null Het
Ndufa4 A T 6: 11,900,574 (GRCm39) V37E probably benign Het
Nop9 T C 14: 55,988,599 (GRCm39) L347P probably damaging Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Or11m3 A T 15: 98,395,716 (GRCm39) D121V probably damaging Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2z8 A G 8: 72,812,280 (GRCm39) Y252C probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or5k3 A G 16: 58,969,660 (GRCm39) Y149C probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pbx1 T G 1: 168,258,947 (GRCm39) I43L probably benign Het
Phf2 T C 13: 48,971,043 (GRCm39) D543G unknown Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pla2g6 T C 15: 79,190,545 (GRCm39) Y339C probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppard T G 17: 28,517,455 (GRCm39) probably null Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Ppm1f A G 16: 16,728,834 (GRCm39) T79A probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgdr A T 14: 45,096,036 (GRCm39) Y225* probably null Het
Ptpn22 A G 3: 103,781,368 (GRCm39) I90V probably damaging Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Pus7l T C 15: 94,438,518 (GRCm39) N109S probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ripk4 A C 16: 97,551,331 (GRCm39) V149G probably damaging Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Rora G A 9: 69,284,119 (GRCm39) A396T probably benign Het
Scap C T 9: 110,203,123 (GRCm39) L266F probably damaging Het
Scn5a A T 9: 119,350,195 (GRCm39) I893N probably damaging Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr G T 1: 119,990,976 (GRCm39) E453D probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Slc9a9 A T 9: 94,901,246 (GRCm39) N393I possibly damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Synj1 G T 16: 90,761,405 (GRCm39) A687D probably damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tbx1 A C 16: 18,403,879 (GRCm39) F138V probably damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Trappc8 A G 18: 20,967,997 (GRCm39) probably null Het
Trim33 AGACTG A 3: 103,236,536 (GRCm39) probably null Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ttn A C 2: 76,716,270 (GRCm39) probably null Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Ubr4 T A 4: 139,151,256 (GRCm39) M1897K probably damaging Het
Uggt2 A G 14: 119,298,788 (GRCm39) L391P probably damaging Het
Vmn2r55 A T 7: 12,402,111 (GRCm39) D392E probably damaging Het
Vps13b A G 15: 35,879,937 (GRCm39) Y3004C probably damaging Het
Vps26a A T 10: 62,304,176 (GRCm39) D180E probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Zbtb46 C T 2: 181,033,224 (GRCm39) C479Y probably damaging Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Other mutations in Pkd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pkd1 APN 17 24,799,069 (GRCm39) missense probably damaging 1.00
IGL00503:Pkd1 APN 17 24,784,401 (GRCm39) missense probably benign
IGL00549:Pkd1 APN 17 24,791,735 (GRCm39) missense probably benign
IGL00573:Pkd1 APN 17 24,813,504 (GRCm39) nonsense probably null
IGL00924:Pkd1 APN 17 24,790,601 (GRCm39) nonsense probably null
IGL01319:Pkd1 APN 17 24,806,893 (GRCm39) unclassified probably benign
IGL01326:Pkd1 APN 17 24,795,148 (GRCm39) nonsense probably null
IGL01457:Pkd1 APN 17 24,813,795 (GRCm39) splice site probably null
IGL01541:Pkd1 APN 17 24,805,272 (GRCm39) missense probably damaging 1.00
IGL01575:Pkd1 APN 17 24,792,102 (GRCm39) missense probably damaging 1.00
IGL01606:Pkd1 APN 17 24,795,497 (GRCm39) missense probably damaging 0.97
IGL01642:Pkd1 APN 17 24,800,266 (GRCm39) missense probably damaging 1.00
IGL01888:Pkd1 APN 17 24,804,789 (GRCm39) missense possibly damaging 0.91
IGL01940:Pkd1 APN 17 24,798,720 (GRCm39) missense possibly damaging 0.63
IGL01958:Pkd1 APN 17 24,799,298 (GRCm39) missense probably damaging 1.00
IGL02005:Pkd1 APN 17 24,804,978 (GRCm39) missense possibly damaging 0.67
IGL02121:Pkd1 APN 17 24,794,901 (GRCm39) missense probably benign 0.03
IGL02148:Pkd1 APN 17 24,798,810 (GRCm39) missense probably damaging 1.00
IGL02409:Pkd1 APN 17 24,792,597 (GRCm39) missense probably benign 0.01
IGL02442:Pkd1 APN 17 24,784,200 (GRCm39) missense probably benign 0.41
IGL02498:Pkd1 APN 17 24,804,753 (GRCm39) missense possibly damaging 0.91
IGL02501:Pkd1 APN 17 24,788,673 (GRCm39) missense probably benign 0.01
IGL02551:Pkd1 APN 17 24,792,789 (GRCm39) missense probably damaging 1.00
IGL02635:Pkd1 APN 17 24,791,785 (GRCm39) missense probably damaging 1.00
IGL02673:Pkd1 APN 17 24,790,257 (GRCm39) missense probably benign 0.40
IGL02808:Pkd1 APN 17 24,812,478 (GRCm39) missense probably damaging 1.00
IGL02816:Pkd1 APN 17 24,813,489 (GRCm39) missense probably benign 0.00
IGL02863:Pkd1 APN 17 24,788,726 (GRCm39) missense possibly damaging 0.56
IGL02927:Pkd1 APN 17 24,794,163 (GRCm39) missense probably damaging 1.00
IGL02961:Pkd1 APN 17 24,797,089 (GRCm39) missense possibly damaging 0.81
IGL03003:Pkd1 APN 17 24,812,577 (GRCm39) critical splice donor site probably null
IGL03066:Pkd1 APN 17 24,805,208 (GRCm39) missense probably damaging 1.00
IGL03182:Pkd1 APN 17 24,792,792 (GRCm39) missense probably damaging 0.98
IGL03384:Pkd1 APN 17 24,784,871 (GRCm39) missense probably benign 0.00
IGL03404:Pkd1 APN 17 24,783,380 (GRCm39) missense probably damaging 0.97
PIT1430001:Pkd1 UTSW 17 24,788,485 (GRCm39) missense probably damaging 0.99
PIT4494001:Pkd1 UTSW 17 24,796,775 (GRCm39) missense probably damaging 1.00
PIT4677001:Pkd1 UTSW 17 24,793,003 (GRCm39) missense possibly damaging 0.94
R0017:Pkd1 UTSW 17 24,797,513 (GRCm39) critical splice donor site probably null
R0017:Pkd1 UTSW 17 24,797,513 (GRCm39) critical splice donor site probably null
R0022:Pkd1 UTSW 17 24,813,793 (GRCm39) missense probably damaging 0.98
R0022:Pkd1 UTSW 17 24,813,793 (GRCm39) missense probably damaging 0.98
R0058:Pkd1 UTSW 17 24,783,677 (GRCm39) missense probably benign 0.06
R0058:Pkd1 UTSW 17 24,783,677 (GRCm39) missense probably benign 0.06
R0085:Pkd1 UTSW 17 24,805,197 (GRCm39) missense probably damaging 0.98
R0094:Pkd1 UTSW 17 24,800,250 (GRCm39) missense possibly damaging 0.80
R0094:Pkd1 UTSW 17 24,800,250 (GRCm39) missense possibly damaging 0.80
R0135:Pkd1 UTSW 17 24,784,045 (GRCm39) missense possibly damaging 0.85
R0304:Pkd1 UTSW 17 24,804,920 (GRCm39) missense probably damaging 1.00
R0427:Pkd1 UTSW 17 24,812,476 (GRCm39) missense probably damaging 0.98
R0502:Pkd1 UTSW 17 24,793,766 (GRCm39) missense probably damaging 0.99
R0518:Pkd1 UTSW 17 24,814,193 (GRCm39) missense probably benign 0.01
R0521:Pkd1 UTSW 17 24,814,193 (GRCm39) missense probably benign 0.01
R0544:Pkd1 UTSW 17 24,804,657 (GRCm39) missense probably damaging 1.00
R0546:Pkd1 UTSW 17 24,799,112 (GRCm39) missense probably benign 0.44
R0626:Pkd1 UTSW 17 24,794,549 (GRCm39) missense probably damaging 0.96
R0648:Pkd1 UTSW 17 24,813,911 (GRCm39) missense probably damaging 1.00
R1138:Pkd1 UTSW 17 24,805,006 (GRCm39) missense probably damaging 1.00
R1302:Pkd1 UTSW 17 24,787,210 (GRCm39) missense probably benign 0.00
R1306:Pkd1 UTSW 17 24,792,146 (GRCm39) missense probably damaging 0.97
R1349:Pkd1 UTSW 17 24,794,240 (GRCm39) missense probably damaging 1.00
R1372:Pkd1 UTSW 17 24,794,240 (GRCm39) missense probably damaging 1.00
R1437:Pkd1 UTSW 17 24,814,106 (GRCm39) missense probably damaging 1.00
R1515:Pkd1 UTSW 17 24,813,827 (GRCm39) missense probably benign 0.01
R1605:Pkd1 UTSW 17 24,796,500 (GRCm39) missense possibly damaging 0.95
R1622:Pkd1 UTSW 17 24,800,614 (GRCm39) missense probably benign
R1623:Pkd1 UTSW 17 24,797,243 (GRCm39) missense probably damaging 0.99
R1726:Pkd1 UTSW 17 24,783,150 (GRCm39) missense probably damaging 0.96
R1756:Pkd1 UTSW 17 24,813,459 (GRCm39) missense probably damaging 1.00
R1780:Pkd1 UTSW 17 24,800,543 (GRCm39) missense probably benign
R1829:Pkd1 UTSW 17 24,784,558 (GRCm39) missense probably benign
R1869:Pkd1 UTSW 17 24,813,905 (GRCm39) missense probably damaging 1.00
R1920:Pkd1 UTSW 17 24,814,131 (GRCm39) missense probably damaging 0.99
R1922:Pkd1 UTSW 17 24,814,131 (GRCm39) missense probably damaging 0.99
R1987:Pkd1 UTSW 17 24,795,566 (GRCm39) splice site probably null
R1988:Pkd1 UTSW 17 24,795,566 (GRCm39) splice site probably null
R1998:Pkd1 UTSW 17 24,791,988 (GRCm39) missense probably damaging 1.00
R2007:Pkd1 UTSW 17 24,798,759 (GRCm39) missense probably damaging 1.00
R2019:Pkd1 UTSW 17 24,787,658 (GRCm39) nonsense probably null
R2054:Pkd1 UTSW 17 24,793,770 (GRCm39) missense probably benign 0.00
R2061:Pkd1 UTSW 17 24,788,888 (GRCm39) missense possibly damaging 0.89
R2196:Pkd1 UTSW 17 24,799,046 (GRCm39) missense possibly damaging 0.60
R2203:Pkd1 UTSW 17 24,799,863 (GRCm39) missense probably benign 0.01
R2301:Pkd1 UTSW 17 24,793,586 (GRCm39) missense probably benign
R2655:Pkd1 UTSW 17 24,795,464 (GRCm39) missense probably damaging 0.99
R2860:Pkd1 UTSW 17 24,784,420 (GRCm39) missense probably benign 0.43
R2861:Pkd1 UTSW 17 24,784,420 (GRCm39) missense probably benign 0.43
R3000:Pkd1 UTSW 17 24,813,460 (GRCm39) missense probably damaging 1.00
R3150:Pkd1 UTSW 17 24,798,765 (GRCm39) missense probably benign 0.00
R3747:Pkd1 UTSW 17 24,810,435 (GRCm39) missense possibly damaging 0.67
R3812:Pkd1 UTSW 17 24,784,615 (GRCm39) missense probably benign 0.00
R3859:Pkd1 UTSW 17 24,797,066 (GRCm39) splice site probably benign
R3893:Pkd1 UTSW 17 24,791,084 (GRCm39) critical splice donor site probably null
R3947:Pkd1 UTSW 17 24,797,011 (GRCm39) splice site probably benign
R3949:Pkd1 UTSW 17 24,797,011 (GRCm39) splice site probably benign
R4176:Pkd1 UTSW 17 24,806,971 (GRCm39) missense probably benign 0.17
R4199:Pkd1 UTSW 17 24,789,004 (GRCm39) missense probably benign 0.41
R4225:Pkd1 UTSW 17 24,812,497 (GRCm39) missense possibly damaging 0.50
R4439:Pkd1 UTSW 17 24,804,666 (GRCm39) missense probably damaging 1.00
R4476:Pkd1 UTSW 17 24,795,500 (GRCm39) missense probably damaging 1.00
R4716:Pkd1 UTSW 17 24,795,107 (GRCm39) missense probably damaging 1.00
R4801:Pkd1 UTSW 17 24,797,070 (GRCm39) missense probably damaging 1.00
R4802:Pkd1 UTSW 17 24,797,070 (GRCm39) missense probably damaging 1.00
R4817:Pkd1 UTSW 17 24,784,348 (GRCm39) splice site probably null
R4903:Pkd1 UTSW 17 24,790,976 (GRCm39) missense probably benign 0.30
R4910:Pkd1 UTSW 17 24,791,661 (GRCm39) missense probably damaging 1.00
R4964:Pkd1 UTSW 17 24,805,042 (GRCm39) critical splice donor site probably null
R4966:Pkd1 UTSW 17 24,805,042 (GRCm39) critical splice donor site probably null
R5040:Pkd1 UTSW 17 24,790,234 (GRCm39) missense probably benign 0.02
R5042:Pkd1 UTSW 17 24,788,861 (GRCm39) missense probably benign 0.00
R5088:Pkd1 UTSW 17 24,809,812 (GRCm39) missense possibly damaging 0.94
R5121:Pkd1 UTSW 17 24,792,437 (GRCm39) missense probably benign
R5296:Pkd1 UTSW 17 24,795,048 (GRCm39) missense probably damaging 1.00
R5338:Pkd1 UTSW 17 24,813,510 (GRCm39) missense probably benign
R5356:Pkd1 UTSW 17 24,812,551 (GRCm39) missense probably damaging 0.97
R5357:Pkd1 UTSW 17 24,784,764 (GRCm39) missense probably damaging 1.00
R5363:Pkd1 UTSW 17 24,784,047 (GRCm39) missense probably benign
R5383:Pkd1 UTSW 17 24,793,349 (GRCm39) missense probably benign
R5622:Pkd1 UTSW 17 24,793,014 (GRCm39) missense possibly damaging 0.67
R5651:Pkd1 UTSW 17 24,810,361 (GRCm39) missense possibly damaging 0.88
R5664:Pkd1 UTSW 17 24,788,345 (GRCm39) missense probably damaging 0.99
R5723:Pkd1 UTSW 17 24,784,497 (GRCm39) missense probably benign 0.01
R5797:Pkd1 UTSW 17 24,811,615 (GRCm39) missense possibly damaging 0.55
R5838:Pkd1 UTSW 17 24,799,186 (GRCm39) missense possibly damaging 0.75
R5866:Pkd1 UTSW 17 24,799,935 (GRCm39) missense probably damaging 0.99
R5873:Pkd1 UTSW 17 24,788,804 (GRCm39) missense probably benign
R5906:Pkd1 UTSW 17 24,791,894 (GRCm39) missense probably benign 0.16
R6047:Pkd1 UTSW 17 24,814,059 (GRCm39) missense probably damaging 1.00
R6076:Pkd1 UTSW 17 24,800,004 (GRCm39) missense probably benign 0.14
R6151:Pkd1 UTSW 17 24,794,580 (GRCm39) missense probably benign 0.00
R6252:Pkd1 UTSW 17 24,800,200 (GRCm39) missense probably damaging 0.98
R6341:Pkd1 UTSW 17 24,799,201 (GRCm39) missense probably damaging 1.00
R6540:Pkd1 UTSW 17 24,794,951 (GRCm39) missense probably damaging 1.00
R6732:Pkd1 UTSW 17 24,788,387 (GRCm39) missense probably damaging 1.00
R6836:Pkd1 UTSW 17 24,800,233 (GRCm39) missense probably damaging 1.00
R6856:Pkd1 UTSW 17 24,792,467 (GRCm39) missense probably benign 0.05
R6865:Pkd1 UTSW 17 24,795,461 (GRCm39) missense probably benign 0.43
R6999:Pkd1 UTSW 17 24,797,475 (GRCm39) missense possibly damaging 0.62
R7077:Pkd1 UTSW 17 24,810,093 (GRCm39) missense probably damaging 1.00
R7123:Pkd1 UTSW 17 24,813,742 (GRCm39) missense possibly damaging 0.89
R7134:Pkd1 UTSW 17 24,813,086 (GRCm39) missense probably damaging 0.99
R7210:Pkd1 UTSW 17 24,794,840 (GRCm39) missense probably damaging 0.98
R7323:Pkd1 UTSW 17 24,794,025 (GRCm39) missense probably benign 0.01
R7380:Pkd1 UTSW 17 24,800,616 (GRCm39) missense probably damaging 1.00
R7407:Pkd1 UTSW 17 24,813,568 (GRCm39) missense probably damaging 1.00
R7410:Pkd1 UTSW 17 24,794,855 (GRCm39) missense probably damaging 1.00
R7492:Pkd1 UTSW 17 24,788,715 (GRCm39) missense probably benign 0.04
R7517:Pkd1 UTSW 17 24,799,393 (GRCm39) missense probably damaging 1.00
R7543:Pkd1 UTSW 17 24,814,227 (GRCm39) missense probably damaging 0.99
R7560:Pkd1 UTSW 17 24,792,605 (GRCm39) missense probably benign 0.33
R7615:Pkd1 UTSW 17 24,812,476 (GRCm39) missense probably damaging 0.98
R7714:Pkd1 UTSW 17 24,769,250 (GRCm39) missense unknown
R7718:Pkd1 UTSW 17 24,805,474 (GRCm39) missense probably benign 0.15
R7731:Pkd1 UTSW 17 24,792,872 (GRCm39) missense probably damaging 1.00
R7849:Pkd1 UTSW 17 24,805,174 (GRCm39) missense probably damaging 0.98
R7859:Pkd1 UTSW 17 24,790,254 (GRCm39) missense probably damaging 1.00
R7866:Pkd1 UTSW 17 24,809,881 (GRCm39) missense probably benign 0.26
R7915:Pkd1 UTSW 17 24,811,630 (GRCm39) nonsense probably null
R7991:Pkd1 UTSW 17 24,791,595 (GRCm39) missense possibly damaging 0.95
R8050:Pkd1 UTSW 17 24,784,617 (GRCm39) missense probably benign 0.26
R8086:Pkd1 UTSW 17 24,800,188 (GRCm39) missense probably damaging 1.00
R8312:Pkd1 UTSW 17 24,786,102 (GRCm39) missense probably benign 0.02
R8385:Pkd1 UTSW 17 24,794,702 (GRCm39) missense possibly damaging 0.67
R8393:Pkd1 UTSW 17 24,791,621 (GRCm39) missense probably damaging 0.99
R8552:Pkd1 UTSW 17 24,810,443 (GRCm39) missense probably damaging 1.00
R8753:Pkd1 UTSW 17 24,793,176 (GRCm39) missense probably damaging 1.00
R8822:Pkd1 UTSW 17 24,784,615 (GRCm39) missense probably benign 0.00
R8855:Pkd1 UTSW 17 24,792,051 (GRCm39) missense probably damaging 1.00
R8866:Pkd1 UTSW 17 24,792,051 (GRCm39) missense probably damaging 1.00
R8867:Pkd1 UTSW 17 24,792,807 (GRCm39) missense probably damaging 1.00
R8960:Pkd1 UTSW 17 24,795,176 (GRCm39) missense probably damaging 1.00
R8966:Pkd1 UTSW 17 24,794,751 (GRCm39) missense possibly damaging 0.69
R9004:Pkd1 UTSW 17 24,799,421 (GRCm39) missense probably benign
R9015:Pkd1 UTSW 17 24,784,636 (GRCm39) nonsense probably null
R9069:Pkd1 UTSW 17 24,791,988 (GRCm39) missense probably damaging 1.00
R9092:Pkd1 UTSW 17 24,788,347 (GRCm39) missense possibly damaging 0.93
R9135:Pkd1 UTSW 17 24,790,976 (GRCm39) missense
R9307:Pkd1 UTSW 17 24,769,451 (GRCm39) missense possibly damaging 0.90
R9312:Pkd1 UTSW 17 24,797,364 (GRCm39) missense probably damaging 1.00
R9313:Pkd1 UTSW 17 24,813,932 (GRCm39) missense probably damaging 1.00
R9380:Pkd1 UTSW 17 24,769,262 (GRCm39) missense unknown
R9383:Pkd1 UTSW 17 24,794,900 (GRCm39) missense probably damaging 1.00
R9531:Pkd1 UTSW 17 24,792,114 (GRCm39) missense probably damaging 0.99
R9617:Pkd1 UTSW 17 24,800,341 (GRCm39) missense probably damaging 1.00
R9691:Pkd1 UTSW 17 24,796,812 (GRCm39) missense possibly damaging 0.77
R9792:Pkd1 UTSW 17 24,800,172 (GRCm39) missense probably benign
R9793:Pkd1 UTSW 17 24,800,172 (GRCm39) missense probably benign
X0024:Pkd1 UTSW 17 24,810,366 (GRCm39) missense possibly damaging 0.68
X0061:Pkd1 UTSW 17 24,813,905 (GRCm39) missense probably damaging 1.00
X0065:Pkd1 UTSW 17 24,805,138 (GRCm39) missense probably benign 0.19
Z1088:Pkd1 UTSW 17 24,784,579 (GRCm39) missense probably benign 0.44
Z1177:Pkd1 UTSW 17 24,794,465 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTTCCTCGGAGGATGTGCCAAC -3'
(R):5'- CACACGCTCACTTACAGGGGTTAC -3'

Sequencing Primer
(F):5'- TCCAGTGTTCCTGGAGAGAAAAC -3'
(R):5'- ACCAGAGTGTCATCTTCATCAGG -3'
Posted On 2014-05-23