Incidental Mutation 'R2991:Pkdrej'
ID 257920
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R2991 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 85698877-85705934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85704137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 600 (I600V)
Ref Sequence ENSEMBL: ENSMUSP00000086352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064370]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064370
AA Change: I600V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I600V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,832,690 (GRCm39) T282S probably benign Het
Asic2 C A 11: 81,858,863 (GRCm39) V50L probably benign Het
Cdadc1 T C 14: 59,823,521 (GRCm39) M324V possibly damaging Het
Cdcp3 A T 7: 130,848,429 (GRCm39) D861V probably damaging Het
Col12a1 A T 9: 79,607,547 (GRCm39) V427D probably damaging Het
Col3a1 C A 1: 45,374,939 (GRCm39) probably benign Het
Esp24 A T 17: 39,350,894 (GRCm39) E31D possibly damaging Het
Igkv14-100 T A 6: 68,496,335 (GRCm39) L76* probably null Het
Itsn2 T C 12: 4,708,474 (GRCm39) V843A probably benign Het
Llgl2 T C 11: 115,741,946 (GRCm39) S663P probably benign Het
Lsg1 T C 16: 30,380,547 (GRCm39) N630S probably damaging Het
Lypd8l C T 11: 58,501,516 (GRCm39) V156I possibly damaging Het
Msh4 A G 3: 153,611,497 (GRCm39) V42A probably benign Het
Nkx6-1 T C 5: 101,807,401 (GRCm39) Y327C probably damaging Het
Or9i1b G A 19: 13,896,675 (GRCm39) C97Y probably damaging Het
Pde4a T C 9: 21,114,539 (GRCm39) S369P probably damaging Het
Plekhg6 T C 6: 125,347,432 (GRCm39) E479G probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rgmb A T 17: 16,041,352 (GRCm39) D78E probably damaging Het
Samd12 C T 15: 53,723,592 (GRCm39) E34K probably damaging Het
Slc22a21 T G 11: 53,850,195 (GRCm39) E220A probably damaging Het
Smc6 A G 12: 11,339,982 (GRCm39) E430G probably damaging Het
Snx15 C A 19: 6,171,515 (GRCm39) L186F probably damaging Het
Tiam2 A G 17: 3,568,525 (GRCm39) E1557G probably benign Het
Vwa8 A T 14: 79,232,589 (GRCm39) T644S probably benign Het
Zcchc4 T A 5: 52,961,780 (GRCm39) F247Y probably damaging Het
Zmynd11 A G 13: 9,745,858 (GRCm39) V165A 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
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'- TGGCCTCTAAATCCGCTTGAC -3'
(R):5'- CAATGTGAGGCTTTATGTTCAGGTC -3'

Sequencing Primer
(F):5'- GCCTCTAAATCCGCTTGACTCAAG -3'
(R):5'- CAGGTCTATGACTCCTTAGGGAC -3'
Posted On 2015-01-11