Incidental Mutation 'R1781:Pkdrej'
ID 195326
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
MMRRC Submission 039812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 85698877-85705934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85705372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 188 (V188A)
Ref Sequence ENSEMBL: ENSMUSP00000086352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064370]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000064370
AA Change: V188A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: V188A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:REJ 130 598 6.2e-116 PFAM
coiled coil region 657 687 N/A INTRINSIC
low complexity region 942 947 N/A INTRINSIC
GPS 984 1050 1.37e-2 SMART
transmembrane domain 1067 1089 N/A INTRINSIC
LH2 1114 1230 3.35e-6 SMART
transmembrane domain 1274 1292 N/A INTRINSIC
transmembrane domain 1312 1334 N/A INTRINSIC
low complexity region 1407 1415 N/A INTRINSIC
transmembrane domain 1451 1473 N/A INTRINSIC
transmembrane domain 1483 1505 N/A INTRINSIC
low complexity region 1571 1579 N/A INTRINSIC
transmembrane domain 1581 1603 N/A INTRINSIC
Pfam:PKD_channel 1621 2051 5.2e-154 PFAM
Meta Mutation Damage Score 0.0744 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
P2ry12 A G 3: 59,125,199 (GRCm39) F159L probably benign Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp1 T C 1: 180,415,578 (GRCm39) S466P probably benign Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Phf20l1 A G 15: 66,504,674 (GRCm39) T771A probably damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn11a A T 9: 119,584,148 (GRCm39) I1489N probably damaging Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T probably benign Het
Other mutations in Pkdrej
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Pkdrej APN 15 85,701,427 (GRCm39) missense probably damaging 1.00
IGL00981:Pkdrej APN 15 85,703,857 (GRCm39) missense probably damaging 1.00
IGL01066:Pkdrej APN 15 85,700,360 (GRCm39) missense probably benign 0.22
IGL01461:Pkdrej APN 15 85,704,575 (GRCm39) missense possibly damaging 0.77
IGL01514:Pkdrej APN 15 85,702,264 (GRCm39) missense possibly damaging 0.82
IGL01606:Pkdrej APN 15 85,701,901 (GRCm39) missense possibly damaging 0.67
IGL01836:Pkdrej APN 15 85,705,159 (GRCm39) missense probably damaging 1.00
IGL02089:Pkdrej APN 15 85,700,489 (GRCm39) missense possibly damaging 0.87
IGL02197:Pkdrej APN 15 85,699,994 (GRCm39) missense possibly damaging 0.89
IGL02331:Pkdrej APN 15 85,705,528 (GRCm39) missense probably damaging 1.00
IGL02559:Pkdrej APN 15 85,702,049 (GRCm39) missense probably benign
IGL02708:Pkdrej APN 15 85,704,988 (GRCm39) missense probably damaging 1.00
IGL02739:Pkdrej APN 15 85,703,895 (GRCm39) missense probably benign 0.41
IGL02741:Pkdrej APN 15 85,701,631 (GRCm39) missense probably benign 0.04
IGL02882:Pkdrej APN 15 85,701,497 (GRCm39) missense probably damaging 1.00
IGL02968:Pkdrej APN 15 85,700,382 (GRCm39) nonsense probably null
IGL03250:Pkdrej APN 15 85,705,556 (GRCm39) missense possibly damaging 0.92
FR4548:Pkdrej UTSW 15 85,703,881 (GRCm39) small insertion probably benign
FR4737:Pkdrej UTSW 15 85,703,881 (GRCm39) small insertion probably benign
PIT1430001:Pkdrej UTSW 15 85,705,493 (GRCm39) missense probably damaging 0.99
PIT4280001:Pkdrej UTSW 15 85,704,136 (GRCm39) missense probably benign 0.01
R0004:Pkdrej UTSW 15 85,702,384 (GRCm39) missense probably damaging 1.00
R0116:Pkdrej UTSW 15 85,701,746 (GRCm39) nonsense probably null
R0117:Pkdrej UTSW 15 85,700,300 (GRCm39) splice site probably null
R0137:Pkdrej UTSW 15 85,705,768 (GRCm39) missense possibly damaging 0.95
R0141:Pkdrej UTSW 15 85,699,831 (GRCm39) missense probably damaging 0.99
R0325:Pkdrej UTSW 15 85,703,752 (GRCm39) missense probably benign 0.08
R0714:Pkdrej UTSW 15 85,699,712 (GRCm39) missense possibly damaging 0.85
R0749:Pkdrej UTSW 15 85,702,275 (GRCm39) missense probably benign 0.43
R0750:Pkdrej UTSW 15 85,702,275 (GRCm39) missense probably benign 0.43
R0755:Pkdrej UTSW 15 85,700,336 (GRCm39) missense probably benign 0.00
R0938:Pkdrej UTSW 15 85,702,364 (GRCm39) missense probably damaging 1.00
R1126:Pkdrej UTSW 15 85,700,515 (GRCm39) missense probably damaging 0.99
R1204:Pkdrej UTSW 15 85,702,513 (GRCm39) missense probably damaging 1.00
R1353:Pkdrej UTSW 15 85,703,119 (GRCm39) missense probably damaging 1.00
R1471:Pkdrej UTSW 15 85,701,334 (GRCm39) missense probably benign 0.37
R1510:Pkdrej UTSW 15 85,700,963 (GRCm39) missense possibly damaging 0.61
R1573:Pkdrej UTSW 15 85,702,275 (GRCm39) missense probably benign 0.43
R1588:Pkdrej UTSW 15 85,701,442 (GRCm39) missense probably benign 0.44
R1739:Pkdrej UTSW 15 85,704,628 (GRCm39) missense probably benign 0.03
R1779:Pkdrej UTSW 15 85,705,372 (GRCm39) missense possibly damaging 0.83
R1828:Pkdrej UTSW 15 85,703,483 (GRCm39) missense possibly damaging 0.48
R1865:Pkdrej UTSW 15 85,704,525 (GRCm39) nonsense probably null
R1870:Pkdrej UTSW 15 85,700,632 (GRCm39) missense probably damaging 1.00
R1937:Pkdrej UTSW 15 85,703,368 (GRCm39) missense probably benign 0.00
R2069:Pkdrej UTSW 15 85,705,432 (GRCm39) missense probably benign 0.01
R2113:Pkdrej UTSW 15 85,703,185 (GRCm39) missense probably damaging 1.00
R2135:Pkdrej UTSW 15 85,700,707 (GRCm39) missense probably damaging 1.00
R2428:Pkdrej UTSW 15 85,701,773 (GRCm39) nonsense probably null
R2991:Pkdrej UTSW 15 85,704,137 (GRCm39) missense probably benign 0.00
R3029:Pkdrej UTSW 15 85,701,205 (GRCm39) missense probably benign 0.16
R3162:Pkdrej UTSW 15 85,700,818 (GRCm39) missense probably damaging 1.00
R3162:Pkdrej UTSW 15 85,700,818 (GRCm39) missense probably damaging 1.00
R3747:Pkdrej UTSW 15 85,705,278 (GRCm39) missense probably damaging 0.96
R3748:Pkdrej UTSW 15 85,705,278 (GRCm39) missense probably damaging 0.96
R3749:Pkdrej UTSW 15 85,705,278 (GRCm39) missense probably damaging 0.96
R4028:Pkdrej UTSW 15 85,701,693 (GRCm39) missense probably benign 0.02
R4169:Pkdrej UTSW 15 85,700,515 (GRCm39) missense probably benign 0.24
R4241:Pkdrej UTSW 15 85,702,345 (GRCm39) missense probably damaging 1.00
R4242:Pkdrej UTSW 15 85,702,345 (GRCm39) missense probably damaging 1.00
R4705:Pkdrej UTSW 15 85,705,368 (GRCm39) nonsense probably null
R4939:Pkdrej UTSW 15 85,704,484 (GRCm39) missense possibly damaging 0.82
R4954:Pkdrej UTSW 15 85,700,602 (GRCm39) missense probably damaging 0.99
R4974:Pkdrej UTSW 15 85,704,610 (GRCm39) missense probably benign 0.00
R4982:Pkdrej UTSW 15 85,703,197 (GRCm39) missense probably damaging 0.99
R5105:Pkdrej UTSW 15 85,700,585 (GRCm39) missense probably damaging 1.00
R5270:Pkdrej UTSW 15 85,702,528 (GRCm39) missense probably damaging 1.00
R5296:Pkdrej UTSW 15 85,701,319 (GRCm39) missense possibly damaging 0.67
R5631:Pkdrej UTSW 15 85,704,638 (GRCm39) missense probably benign
R5909:Pkdrej UTSW 15 85,702,497 (GRCm39) missense possibly damaging 0.82
R5998:Pkdrej UTSW 15 85,699,654 (GRCm39) missense probably benign 0.01
R6037:Pkdrej UTSW 15 85,703,967 (GRCm39) missense probably damaging 0.99
R6037:Pkdrej UTSW 15 85,703,967 (GRCm39) missense probably damaging 0.99
R6125:Pkdrej UTSW 15 85,700,585 (GRCm39) missense probably damaging 1.00
R6270:Pkdrej UTSW 15 85,705,306 (GRCm39) nonsense probably null
R6500:Pkdrej UTSW 15 85,703,747 (GRCm39) missense probably damaging 0.98
R6776:Pkdrej UTSW 15 85,701,510 (GRCm39) nonsense probably null
R6786:Pkdrej UTSW 15 85,702,850 (GRCm39) missense probably benign
R6866:Pkdrej UTSW 15 85,705,082 (GRCm39) missense probably damaging 1.00
R6954:Pkdrej UTSW 15 85,702,054 (GRCm39) nonsense probably null
R7086:Pkdrej UTSW 15 85,704,317 (GRCm39) missense probably damaging 1.00
R7231:Pkdrej UTSW 15 85,700,389 (GRCm39) missense possibly damaging 0.55
R7233:Pkdrej UTSW 15 85,705,349 (GRCm39) missense probably damaging 0.96
R7289:Pkdrej UTSW 15 85,705,301 (GRCm39) missense probably benign
R7549:Pkdrej UTSW 15 85,703,994 (GRCm39) missense probably damaging 1.00
R7582:Pkdrej UTSW 15 85,703,122 (GRCm39) missense possibly damaging 0.92
R7677:Pkdrej UTSW 15 85,699,788 (GRCm39) missense probably benign 0.01
R7791:Pkdrej UTSW 15 85,700,132 (GRCm39) missense possibly damaging 0.87
R7873:Pkdrej UTSW 15 85,700,724 (GRCm39) missense probably benign 0.29
R8121:Pkdrej UTSW 15 85,699,655 (GRCm39) missense probably benign 0.00
R8140:Pkdrej UTSW 15 85,702,611 (GRCm39) missense probably damaging 1.00
R8219:Pkdrej UTSW 15 85,705,493 (GRCm39) missense probably damaging 0.99
R8222:Pkdrej UTSW 15 85,701,640 (GRCm39) missense probably benign
R8432:Pkdrej UTSW 15 85,701,494 (GRCm39) missense probably benign 0.00
R8755:Pkdrej UTSW 15 85,703,807 (GRCm39) missense probably benign 0.00
R8786:Pkdrej UTSW 15 85,704,044 (GRCm39) missense probably benign 0.01
R8817:Pkdrej UTSW 15 85,702,774 (GRCm39) missense probably damaging 1.00
R8827:Pkdrej UTSW 15 85,699,732 (GRCm39) missense possibly damaging 0.76
R8966:Pkdrej UTSW 15 85,702,012 (GRCm39) missense probably damaging 0.99
R8988:Pkdrej UTSW 15 85,700,538 (GRCm39) missense probably damaging 0.99
R9028:Pkdrej UTSW 15 85,701,098 (GRCm39) missense probably damaging 1.00
R9257:Pkdrej UTSW 15 85,700,098 (GRCm39) missense probably damaging 1.00
R9279:Pkdrej UTSW 15 85,700,834 (GRCm39) missense probably damaging 1.00
R9404:Pkdrej UTSW 15 85,703,270 (GRCm39) missense probably benign 0.39
R9433:Pkdrej UTSW 15 85,704,070 (GRCm39) missense probably benign 0.03
R9454:Pkdrej UTSW 15 85,702,420 (GRCm39) missense probably benign 0.05
R9479:Pkdrej UTSW 15 85,699,571 (GRCm39) missense possibly damaging 0.64
R9720:Pkdrej UTSW 15 85,702,497 (GRCm39) missense possibly damaging 0.82
R9748:Pkdrej UTSW 15 85,704,871 (GRCm39) missense possibly damaging 0.91
R9760:Pkdrej UTSW 15 85,705,268 (GRCm39) missense probably benign 0.30
Z1177:Pkdrej UTSW 15 85,700,738 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCGTAGGACATGCTTCCATTCAG -3'
(R):5'- TCATGCAGCCAGTGAAGATCAACAG -3'

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