Incidental Mutation 'R1828:Pkdrej'
ID 207047
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
MMRRC Submission 039855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1828 (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 85703483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 818 (T818A)
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: T818A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: T818A

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: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,190,962 (GRCm39) T156A probably benign Het
9230106D20Rik A T 10: 19,536,065 (GRCm39) noncoding transcript Het
Abca3 A G 17: 24,585,171 (GRCm39) D144G probably benign Het
Anxa2 T A 9: 69,390,260 (GRCm39) L121Q probably damaging Het
Anxa7 A T 14: 20,512,732 (GRCm39) I267N probably damaging Het
Asb14 A T 14: 26,633,797 (GRCm39) D334V possibly damaging Het
Batf3 A G 1: 190,830,714 (GRCm39) N20S probably benign Het
Bub1b A G 2: 118,468,920 (GRCm39) H895R probably benign Het
C1qtnf12 G A 4: 156,050,160 (GRCm39) probably null Het
Cars1 T C 7: 143,130,385 (GRCm39) I294V probably damaging Het
Ccdc142 G A 6: 83,084,462 (GRCm39) A527T probably damaging Het
Ccdc168 A T 1: 44,096,234 (GRCm39) N1621K possibly damaging Het
Ccdc92 T C 5: 124,913,242 (GRCm39) N96D probably benign Het
Ceacam18 T A 7: 43,288,880 (GRCm39) D210E probably benign Het
Cenpe A G 3: 134,952,257 (GRCm39) T1373A probably damaging Het
Cfap161 T G 7: 83,440,932 (GRCm39) probably null Het
Cimip4 T C 15: 78,270,588 (GRCm39) Y60C possibly damaging Het
Cldn19 A G 4: 119,112,990 (GRCm39) D74G probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cox7a2l T A 17: 83,811,397 (GRCm39) Q78L probably benign Het
Crot T C 5: 9,019,080 (GRCm39) N491S probably benign Het
Cspg4b T A 13: 113,505,342 (GRCm39) L2157Q probably damaging Het
Ctr9 A G 7: 110,643,165 (GRCm39) probably null Het
Cyp4f14 T G 17: 33,130,209 (GRCm39) D190A probably damaging Het
D630039A03Rik C T 4: 57,910,240 (GRCm39) V191I probably benign Het
Dnah10 A T 5: 124,838,343 (GRCm39) N1124I probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Epdr1 G A 13: 19,778,773 (GRCm39) Q6* probably null Het
Erbin A G 13: 103,996,577 (GRCm39) probably null Het
Ero1a A T 14: 45,525,217 (GRCm39) I436K probably damaging Het
Exph5 A T 9: 53,287,941 (GRCm39) Q1674L possibly damaging Het
Fat4 A T 3: 39,037,607 (GRCm39) Y3753F probably damaging Het
Gaa T C 11: 119,174,098 (GRCm39) V763A probably damaging Het
Golim4 G A 3: 75,809,745 (GRCm39) T216I probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gtf2f2 A G 14: 76,245,143 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,469,694 (GRCm39) Y70C probably damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hecw2 T C 1: 53,965,182 (GRCm39) D548G probably benign Het
Hr G A 14: 70,809,477 (GRCm39) probably null Het
Hrg A C 16: 22,774,853 (GRCm39) E161A probably damaging Het
Hydin A T 8: 111,237,526 (GRCm39) N1933I probably benign Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kif5c T C 2: 49,570,252 (GRCm39) probably null Het
Mgat5b C A 11: 116,868,614 (GRCm39) H512Q probably damaging Het
Mtmr4 T C 11: 87,502,943 (GRCm39) V999A probably benign Het
Mttp G T 3: 137,813,041 (GRCm39) Q545K probably damaging Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nexn A G 3: 151,948,405 (GRCm39) I386T probably damaging Het
Nrip3 A G 7: 109,365,763 (GRCm39) S85P probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olr1 T C 6: 129,465,895 (GRCm39) N37S possibly damaging Het
Or14j5 C T 17: 38,161,966 (GRCm39) A161V probably benign Het
Or4b1d A G 2: 89,968,931 (GRCm39) L184S probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or5p80 G T 7: 108,229,855 (GRCm39) V219F possibly damaging Het
Pax4 T C 6: 28,443,446 (GRCm39) Y290C probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pglyrp4 T C 3: 90,640,310 (GRCm39) Y187H probably damaging Het
Pi4ka A G 16: 17,098,614 (GRCm39) M2017T probably benign Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Pygm T C 19: 6,447,637 (GRCm39) I648T possibly damaging Het
Rab4a A T 8: 124,550,565 (GRCm39) K15I probably damaging Het
Rasa3 T C 8: 13,635,035 (GRCm39) E428G probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rpl3 C T 15: 79,964,591 (GRCm39) V222M possibly damaging Het
Rtl9 C T X: 141,886,011 (GRCm39) S1141F possibly damaging Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Sfswap C T 5: 129,590,148 (GRCm39) T215I probably damaging Het
Slit2 A G 5: 48,461,372 (GRCm39) D1456G probably damaging Het
Tex19.2 C T 11: 121,008,317 (GRCm39) V44I probably benign Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Tpd52 G T 3: 9,012,579 (GRCm39) N59K probably damaging Het
Trpc3 G A 3: 36,692,695 (GRCm39) P766S possibly damaging Het
Usp17la T A 7: 104,510,331 (GRCm39) V312D probably damaging Het
Xirp2 A G 2: 67,345,582 (GRCm39) N2608D possibly damaging Het
Zfp764l1 T A 7: 126,991,081 (GRCm39) H302L probably damaging Het
Zscan25 C A 5: 145,227,858 (GRCm39) H507Q possibly 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
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'- CACCTGCTGTCTACCTCAAAG -3'
(R):5'- CTGCTCTGAGGACCAGTAAC -3'

Sequencing Primer
(F):5'- TCAAAGCTAATTCCACCCGTTG -3'
(R):5'- CTGCTCTGAGGACCAGTAACTTTAAC -3'
Posted On 2014-06-23