Incidental Mutation 'R0137:Pkdrej'
ID 60929
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
MMRRC Submission 038422-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0137 (G1)
Quality Score 133
Status Validated
Chromosome 15
Chromosomal Location 85698877-85705934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85705768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 56 (P56Q)
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: P56Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: P56Q

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A T 8: 120,878,115 (GRCm39) H190L possibly damaging Het
Adap1 A G 5: 139,278,976 (GRCm39) probably benign Het
Adgra3 C T 5: 50,121,182 (GRCm39) probably benign Het
Adgre5 A T 8: 84,451,527 (GRCm39) V527E probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Angptl6 C A 9: 20,789,683 (GRCm39) A70S probably benign Het
Ankdd1a C A 9: 65,417,610 (GRCm39) K137N probably null Het
Ccdc170 T C 10: 4,496,950 (GRCm39) probably benign Het
Ccdc51 A G 9: 108,920,698 (GRCm39) E195G probably damaging Het
Cdc37 A T 9: 21,053,426 (GRCm39) C204S possibly damaging Het
Cfap36 T C 11: 29,172,431 (GRCm39) probably benign Het
Col6a2 C A 10: 76,432,259 (GRCm39) G965C probably damaging Het
Csn1s2a G A 5: 87,926,826 (GRCm39) S53N possibly damaging Het
Dab2ip T C 2: 35,582,388 (GRCm39) probably null Het
Dhx58 A G 11: 100,587,823 (GRCm39) V578A probably damaging Het
Diaph1 G T 18: 38,024,902 (GRCm39) Q520K unknown Het
Eefsec C A 6: 88,274,631 (GRCm39) K444N probably benign Het
Eftud2 A T 11: 102,759,443 (GRCm39) H153Q possibly damaging Het
Eif5b T G 1: 38,058,324 (GRCm39) S209A probably benign Het
Exosc2 T A 2: 31,562,497 (GRCm39) Y46N probably damaging Het
F2 C T 2: 91,456,075 (GRCm39) G562D probably damaging Het
Fgf23 G A 6: 127,057,128 (GRCm39) G148D probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fstl5 G A 3: 76,614,786 (GRCm39) G179R probably damaging Het
Garre1 A T 7: 33,938,644 (GRCm39) W246R probably damaging Het
Gart T A 16: 91,422,282 (GRCm39) Q745L probably benign Het
Gmeb1 T A 4: 131,959,419 (GRCm39) M212L probably benign Het
Gpaa1 T C 15: 76,218,981 (GRCm39) Y548H probably damaging Het
Gpatch1 T C 7: 34,986,667 (GRCm39) E763G probably damaging Het
Grm8 T A 6: 27,762,389 (GRCm39) I279F probably damaging Het
Hcls1 T A 16: 36,771,536 (GRCm39) H147Q probably damaging Het
Hpcal1 A C 12: 17,836,389 (GRCm39) D73A probably damaging Het
Il22ra1 T C 4: 135,478,317 (GRCm39) S463P probably benign Het
Itgbl1 G A 14: 124,078,098 (GRCm39) probably null Het
Izumo3 G T 4: 92,035,437 (GRCm39) probably benign Het
Kcna5 A T 6: 126,510,346 (GRCm39) L594Q probably damaging Het
Kif13a A T 13: 46,918,079 (GRCm39) D409E probably benign Het
Kif9 A T 9: 110,314,106 (GRCm39) I39F probably damaging Het
Klri2 C T 6: 129,709,171 (GRCm39) R227H possibly damaging Het
Lamc3 G A 2: 31,798,628 (GRCm39) G445S probably damaging Het
Lctl A G 9: 64,024,980 (GRCm39) probably benign Het
Lrp4 T C 2: 91,325,327 (GRCm39) L1384P probably damaging Het
Mcm9 G A 10: 53,439,526 (GRCm39) S549L possibly damaging Het
Ms4a15 G A 19: 10,956,697 (GRCm39) probably benign Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Nckap1l A T 15: 103,390,391 (GRCm39) I721F probably benign Het
Nemp2 T C 1: 52,684,588 (GRCm39) V298A probably benign Het
Npc1l1 T A 11: 6,178,148 (GRCm39) K421* probably null Het
Npr1 C T 3: 90,363,244 (GRCm39) V879M probably damaging Het
Odad4 A G 11: 100,454,394 (GRCm39) E393G probably damaging Het
Or2ad1 A G 13: 21,326,336 (GRCm39) V297A possibly damaging Het
Or51q1c A G 7: 103,652,709 (GRCm39) T82A probably benign Het
Osgin1 A T 8: 120,169,219 (GRCm39) I39F possibly damaging Het
Phip G C 9: 82,809,244 (GRCm39) probably null Het
Plcxd2 A G 16: 45,800,889 (GRCm39) Y112H probably damaging Het
Plekha1 C T 7: 130,499,176 (GRCm39) T155M probably damaging Het
Prkdc T C 16: 15,558,196 (GRCm39) probably null Het
Prss1 A G 6: 41,439,495 (GRCm39) H76R probably damaging Het
Psg23 T C 7: 18,348,558 (GRCm39) D83G probably benign Het
Ptprd T A 4: 76,055,140 (GRCm39) Q196L probably benign Het
Ranbp3l A T 15: 9,063,067 (GRCm39) H292L probably damaging Het
Ranbp6 T C 19: 29,787,097 (GRCm39) E1085G probably benign Het
Rccd1 A G 7: 79,970,326 (GRCm39) V97A possibly damaging Het
Rchy1 T C 5: 92,105,458 (GRCm39) S48G probably benign Het
Rnmt G A 18: 68,446,771 (GRCm39) M265I probably benign Het
Robo3 A T 9: 37,336,640 (GRCm39) M376K probably benign Het
Rrp12 T C 19: 41,862,289 (GRCm39) D898G probably benign Het
Scg3 A T 9: 75,570,462 (GRCm39) probably benign Het
Sec31b A T 19: 44,522,821 (GRCm39) M57K probably damaging Het
Slc17a6 A C 7: 51,315,892 (GRCm39) I387L probably benign Het
Speer4a1 T A 5: 26,240,982 (GRCm39) Q170L possibly damaging Het
Srsf9 A G 5: 115,470,260 (GRCm39) D146G possibly damaging Het
Ss18 A G 18: 14,788,200 (GRCm39) M90T probably damaging Het
Syna A T 5: 134,588,314 (GRCm39) F212I possibly damaging Het
Tex54 A G 19: 8,718,221 (GRCm39) probably benign Het
Thsd1 A G 8: 22,733,055 (GRCm39) H34R probably damaging Het
Tmem143 T C 7: 45,547,086 (GRCm39) I84T probably benign Het
Trim50 T C 5: 135,395,487 (GRCm39) V281A probably damaging Het
Trp53i11 C A 2: 93,029,696 (GRCm39) probably benign Het
Ttll4 C T 1: 74,718,851 (GRCm39) T234I possibly damaging Het
Ttyh1 A T 7: 4,127,719 (GRCm39) I136F possibly damaging Het
Ube2f T C 1: 91,189,976 (GRCm39) probably benign Het
Vcl T A 14: 21,037,083 (GRCm39) L227* probably null Het
Vmn1r222 A C 13: 23,416,974 (GRCm39) C80G probably damaging Het
Vps13b G T 15: 35,926,365 (GRCm39) A3889S probably benign Het
Vps8 T C 16: 21,323,136 (GRCm39) probably benign Het
Zbtb44 A G 9: 30,978,006 (GRCm39) Y422C probably damaging Het
Zfp180 A G 7: 23,805,158 (GRCm39) S526G possibly damaging Het
Zfp518a A C 19: 40,904,310 (GRCm39) E1413A probably damaging Het
Zfp629 T A 7: 127,210,858 (GRCm39) Y317F probably damaging Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G 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
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
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'- TCAGGACAGTACCAACGCACAGTG -3'
(R):5'- AGATCCTTGATGACCCTGAGAGCC -3'

Sequencing Primer
(F):5'- CTCGTCTCTGCTCAGGATAAGG -3'
(R):5'- TGTACTGTCCCCGAGAGAAC -3'
Posted On 2013-07-24