Incidental Mutation 'R9748:Pkdrej'
ID 732357
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85698877-85705934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85704871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 355 (T355K)
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: T355K

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: T355K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Adamts12 G A 15: 11,310,628 (GRCm39) V962I probably damaging Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc168 G T 1: 44,095,824 (GRCm39) S1758Y possibly damaging Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Il1r1 A G 1: 40,349,496 (GRCm39) T351A probably benign Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Lrp4 C T 2: 91,316,116 (GRCm39) L745F probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wdr62 T A 7: 29,953,466 (GRCm39) M635L possibly damaging Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C probably damaging 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
R1781: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
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'- CAAGATTTCAGAATCAGGGAAACCC -3'
(R):5'- TTCACTGAACTGGCCTTGGG -3'

Sequencing Primer
(F):5'- ATTCCTAAAGGCAAAAGCTTTTATGG -3'
(R):5'- GCAGTGGGCTCTGTACTAAC -3'
Posted On 2022-11-14