Incidental Mutation 'R1372:Pkd1'
ID 157387
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 039436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1372 (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 24794240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1976 (C1976R)
Ref Sequence ENSEMBL: ENSMUSP00000049296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000226883]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035565
AA Change: C1976R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: C1976R

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 noncoding transcript
Transcript: ENSMUST00000226178
Predicted Effect probably benign
Transcript: ENSMUST00000226883
Predicted Effect probably benign
Transcript: ENSMUST00000227107
Meta Mutation Damage Score 0.6620 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging 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
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
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'- GGGCAGCCAGTCCACTTTGAAATC -3'
(R):5'- GCACGCACATGGATCTCCAGTAAC -3'

Sequencing Primer
(F):5'- AGTCCACTTTGAAATCCTGCTG -3'
(R):5'- ATGGATCTCCAGTAACCCTGC -3'
Posted On 2014-02-18