Incidental Mutation 'R1920:Pkd1'
ID 212997
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 039938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1920 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24768808-24815482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24814131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 4167 (P4167Q)
Ref Sequence ENSEMBL: ENSMUSP00000049296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227745] [ENSMUST00000228581] [ENSMUST00000228412] [ENSMUST00000227058] [ENSMUST00000227607] [ENSMUST00000227804]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035565
AA Change: P4167Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: P4167Q

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: ENSMUST00000226398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227094
Predicted Effect probably benign
Transcript: ENSMUST00000227745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226691
Predicted Effect probably benign
Transcript: ENSMUST00000228581
Predicted Effect probably benign
Transcript: ENSMUST00000228412
Predicted Effect probably benign
Transcript: ENSMUST00000227058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228750
Predicted Effect probably benign
Transcript: ENSMUST00000227607
Predicted Effect probably benign
Transcript: ENSMUST00000227804
Predicted Effect probably benign
Transcript: ENSMUST00000227107
Meta Mutation Damage Score 0.1488 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency 98% (101/103)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,828 (GRCm39) V77A probably benign Het
Actl7a G A 4: 56,744,135 (GRCm39) V221M probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgef10 C T 8: 15,006,987 (GRCm39) probably benign Het
Asgr2 T C 11: 69,989,123 (GRCm39) L86P possibly damaging Het
Atp12a A G 14: 56,624,308 (GRCm39) R919G probably benign Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
B3gnt5 T G 16: 19,588,294 (GRCm39) L171R probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Bdp1 A T 13: 100,235,097 (GRCm39) W166R probably benign Het
Bean1 A T 8: 104,937,742 (GRCm39) H107L possibly damaging Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cep78 G A 19: 15,951,715 (GRCm39) probably benign Het
Cfap70 C T 14: 20,445,020 (GRCm39) A1087T probably damaging Het
Cideb A G 14: 55,992,700 (GRCm39) V72A probably benign Het
Cpz T C 5: 35,675,012 (GRCm39) E79G probably damaging Het
Crybg1 A G 10: 43,873,544 (GRCm39) L1188P probably damaging Het
Cuzd1 G A 7: 130,911,425 (GRCm39) P518L probably benign Het
Cyp2j5 A T 4: 96,551,491 (GRCm39) N77K probably damaging Het
Cyp4f39 T G 17: 32,702,265 (GRCm39) F254C probably benign Het
Dkk1 C A 19: 30,524,731 (GRCm39) V225L probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dll3 T C 7: 27,998,348 (GRCm39) T206A probably benign Het
Dnhd1 T C 7: 105,362,614 (GRCm39) C3766R probably benign Het
Dock9 G T 14: 121,820,792 (GRCm39) S1534Y probably damaging Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
F2r A G 13: 95,740,698 (GRCm39) F279S probably damaging Het
Farp1 C A 14: 121,492,908 (GRCm39) N503K probably benign Het
Fbxw2 G A 2: 34,712,776 (GRCm39) T95I probably damaging Het
Fis1 A G 5: 136,994,461 (GRCm39) T50A probably benign Het
Frzb T G 2: 80,276,772 (GRCm39) E138A probably damaging Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Fyco1 C T 9: 123,659,478 (GRCm39) D233N probably damaging Het
Gmpr A G 13: 45,667,997 (GRCm39) probably benign Het
Hc C T 2: 34,919,407 (GRCm39) probably benign Het
Hnrnpa1 T C 15: 103,150,699 (GRCm39) M186T possibly damaging Het
Kl A G 5: 150,906,132 (GRCm39) K501E probably benign Het
Klhl42 A G 6: 147,009,427 (GRCm39) N422S probably damaging Het
Kmt2d C G 15: 98,753,471 (GRCm39) K127N probably damaging Het
Kmt2d T A 15: 98,753,472 (GRCm39) K127M probably damaging Het
Krt39 T A 11: 99,405,461 (GRCm39) T480S probably benign Het
Lims2 T A 18: 32,088,395 (GRCm39) C198* probably null Het
Mctp1 A G 13: 76,532,729 (GRCm39) N26D possibly damaging Het
Mdm4 A G 1: 132,931,538 (GRCm39) S168P probably benign Het
Myo3a A G 2: 22,455,008 (GRCm39) Y71C probably benign Het
Nlrp9c T A 7: 26,084,319 (GRCm39) D420V probably damaging Het
Ntf3 A T 6: 126,079,485 (GRCm39) I7N possibly damaging Het
Or10ag52 G A 2: 87,043,721 (GRCm39) G162S probably benign Het
Or13c25 G T 4: 52,910,849 (GRCm39) T315K probably benign Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Papln C A 12: 83,836,028 (GRCm39) Y1222* probably null Het
Pgm3 T G 9: 86,440,531 (GRCm39) I387L possibly damaging Het
Pira12 G C 7: 3,900,871 (GRCm39) P20R probably damaging Het
Plcb4 T A 2: 135,854,947 (GRCm39) V1174E probably damaging Het
Polr1b A G 2: 128,943,031 (GRCm39) N9D probably benign Het
Prkaa2 G A 4: 104,893,950 (GRCm39) Q456* probably null Het
Ptch2 G T 4: 116,965,858 (GRCm39) V425L probably benign Het
Ptprh A T 7: 4,552,394 (GRCm39) S957T probably benign Het
Riok1 A G 13: 38,241,177 (GRCm39) D444G probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Sec24c T C 14: 20,736,955 (GRCm39) S304P probably damaging Het
Serpinb6b A T 13: 33,158,991 (GRCm39) D64V possibly damaging Het
Serpinb9b A T 13: 33,223,531 (GRCm39) probably null Het
Six6 T A 12: 72,988,538 (GRCm39) I237N probably damaging Het
Slc25a36 A T 9: 96,975,135 (GRCm39) M127K probably benign Het
Slc2a10 A G 2: 165,356,550 (GRCm39) D70G probably damaging Het
Slc2a3 T A 6: 122,713,700 (GRCm39) I171F probably damaging Het
Smc4 A G 3: 68,940,401 (GRCm39) T1087A probably damaging Het
Spg21 A G 9: 65,391,779 (GRCm39) Y242C probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Stx2 G A 5: 129,065,903 (GRCm39) T251M probably damaging Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Tasor2 A T 13: 3,626,612 (GRCm39) Y1113N possibly damaging Het
Tbc1d31 G A 15: 57,775,760 (GRCm39) R17H probably damaging Het
Tbl3 G A 17: 24,923,477 (GRCm39) T284I probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tgoln1 T C 6: 72,593,084 (GRCm39) E132G probably benign Het
Timeless T C 10: 128,077,583 (GRCm39) I221T probably damaging Het
Tmem176b C T 6: 48,815,138 (GRCm39) A52T possibly damaging Het
Tmem192 C T 8: 65,418,235 (GRCm39) L207F probably damaging Het
Trank1 T C 9: 111,176,996 (GRCm39) probably null Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vcan T C 13: 89,841,134 (GRCm39) E1470G probably damaging Het
Vmn1r200 T A 13: 22,579,663 (GRCm39) N146K probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r61 T C 7: 41,949,710 (GRCm39) I710T possibly damaging Het
Wipf1 T A 2: 73,270,499 (GRCm39) K61N probably benign Het
Zfp112 T C 7: 23,824,662 (GRCm39) V210A probably benign Het
Zfp612 G A 8: 110,815,095 (GRCm39) V101M probably benign Het
Zfp637 A G 6: 117,822,681 (GRCm39) R270G probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly damaging Het
Zfp97 A G 17: 17,365,265 (GRCm39) I255V 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
R1785:Pkd1 UTSW 17 24,810,073 (GRCm39) missense probably benign 0.00
R1829:Pkd1 UTSW 17 24,784,558 (GRCm39) missense probably benign
R1869:Pkd1 UTSW 17 24,813,905 (GRCm39) missense probably damaging 1.00
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'- GATGGGCTTCAGCAAGGTCAAG -3'
(R):5'- TGTTGCTCCAGCTGGTAGAC -3'

Sequencing Primer
(F):5'- CTTCAGCAAGGTCAAGGAGGTG -3'
(R):5'- AGCTGGTAGACGTCCTCTG -3'
Posted On 2014-07-14