Incidental Mutation 'IGL01606:Pkdrej'
ID 93416
Institutional Source Australian Phenomics Network (link to record)
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: 0.083) question?
Stock # IGL01606
Quality Score
Status
Chromosome 15
Chromosomal Location 85814670-85821734 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85817700 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1345 (K1345R)
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: K1345R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: K1345R

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 (GRCm38) D84G probably damaging Het
Adat3 A T 10: 80,607,338 (GRCm38) I337F probably damaging Het
Carmil3 T A 14: 55,493,849 (GRCm38) N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 (GRCm38) E158G possibly damaging Het
Cel T C 2: 28,560,564 (GRCm38) I150V probably benign Het
Chd5 A G 4: 152,360,975 (GRCm38) H441R probably damaging Het
Clic5 G T 17: 44,248,746 (GRCm38) R109L probably benign Het
Cpd T C 11: 76,812,640 (GRCm38) M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 (GRCm38) probably benign Het
Dnah11 C A 12: 117,983,032 (GRCm38) A3106S probably benign Het
Fasn A C 11: 120,809,023 (GRCm38) probably null Het
Fat1 G A 8: 45,023,049 (GRCm38) V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 (GRCm38) I258T probably benign Het
Frem2 C A 3: 53,653,591 (GRCm38) R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 (GRCm38) noncoding transcript Het
Gm5862 T A 5: 26,019,516 (GRCm38) T152S probably benign Het
Gnb3 T A 6: 124,837,255 (GRCm38) D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 (GRCm38) noncoding transcript Het
Klrb1 C A 6: 128,723,005 (GRCm38) E14D probably benign Het
Osbpl1a A T 18: 12,756,214 (GRCm38) D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 (GRCm38) V2330A probably damaging Het
Plxna4 A G 6: 32,158,001 (GRCm38) F1756L probably damaging Het
Psg28 A C 7: 18,430,371 (GRCm38) S139A probably benign Het
Ptpru A T 4: 131,808,481 (GRCm38) I395N possibly damaging Het
Reps1 A G 10: 18,107,687 (GRCm38) E426G probably damaging Het
Rtp4 T A 16: 23,613,254 (GRCm38) S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 (GRCm38) R561L probably benign Het
Slc29a2 T A 19: 5,027,439 (GRCm38) L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 (GRCm38) F653L probably damaging Het
Sulf1 G T 1: 12,836,204 (GRCm38) R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 (GRCm38) L602P probably damaging Het
Ttn A G 2: 76,776,790 (GRCm38) V17963A probably damaging Het
Urb1 A G 16: 90,760,459 (GRCm38) S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 (GRCm38) R149W probably damaging Het
Other mutations in Pkdrej
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Pkdrej APN 15 85,817,226 (GRCm38) missense probably damaging 1.00
IGL00981:Pkdrej APN 15 85,819,656 (GRCm38) missense probably damaging 1.00
IGL01066:Pkdrej APN 15 85,816,159 (GRCm38) missense probably benign 0.22
IGL01461:Pkdrej APN 15 85,820,374 (GRCm38) missense possibly damaging 0.77
IGL01514:Pkdrej APN 15 85,818,063 (GRCm38) missense possibly damaging 0.82
IGL01836:Pkdrej APN 15 85,820,958 (GRCm38) missense probably damaging 1.00
IGL02089:Pkdrej APN 15 85,816,288 (GRCm38) missense possibly damaging 0.87
IGL02197:Pkdrej APN 15 85,815,793 (GRCm38) missense possibly damaging 0.89
IGL02331:Pkdrej APN 15 85,821,327 (GRCm38) missense probably damaging 1.00
IGL02559:Pkdrej APN 15 85,817,848 (GRCm38) missense probably benign
IGL02708:Pkdrej APN 15 85,820,787 (GRCm38) missense probably damaging 1.00
IGL02739:Pkdrej APN 15 85,819,694 (GRCm38) missense probably benign 0.41
IGL02741:Pkdrej APN 15 85,817,430 (GRCm38) missense probably benign 0.04
IGL02882:Pkdrej APN 15 85,817,296 (GRCm38) missense probably damaging 1.00
IGL02968:Pkdrej APN 15 85,816,181 (GRCm38) nonsense probably null
IGL03250:Pkdrej APN 15 85,821,355 (GRCm38) missense possibly damaging 0.92
FR4548:Pkdrej UTSW 15 85,819,680 (GRCm38) small insertion probably benign
FR4737:Pkdrej UTSW 15 85,819,680 (GRCm38) small insertion probably benign
PIT1430001:Pkdrej UTSW 15 85,821,292 (GRCm38) missense probably damaging 0.99
PIT4280001:Pkdrej UTSW 15 85,819,935 (GRCm38) missense probably benign 0.01
R0004:Pkdrej UTSW 15 85,818,183 (GRCm38) missense probably damaging 1.00
R0116:Pkdrej UTSW 15 85,817,545 (GRCm38) nonsense probably null
R0117:Pkdrej UTSW 15 85,816,099 (GRCm38) splice site probably null
R0137:Pkdrej UTSW 15 85,821,567 (GRCm38) missense possibly damaging 0.95
R0141:Pkdrej UTSW 15 85,815,630 (GRCm38) missense probably damaging 0.99
R0325:Pkdrej UTSW 15 85,819,551 (GRCm38) missense probably benign 0.08
R0714:Pkdrej UTSW 15 85,815,511 (GRCm38) missense possibly damaging 0.85
R0749:Pkdrej UTSW 15 85,818,074 (GRCm38) missense probably benign 0.43
R0750:Pkdrej UTSW 15 85,818,074 (GRCm38) missense probably benign 0.43
R0755:Pkdrej UTSW 15 85,816,135 (GRCm38) missense probably benign 0.00
R0938:Pkdrej UTSW 15 85,818,163 (GRCm38) missense probably damaging 1.00
R1126:Pkdrej UTSW 15 85,816,314 (GRCm38) missense probably damaging 0.99
R1204:Pkdrej UTSW 15 85,818,312 (GRCm38) missense probably damaging 1.00
R1353:Pkdrej UTSW 15 85,818,918 (GRCm38) missense probably damaging 1.00
R1471:Pkdrej UTSW 15 85,817,133 (GRCm38) missense probably benign 0.37
R1510:Pkdrej UTSW 15 85,816,762 (GRCm38) missense possibly damaging 0.61
R1573:Pkdrej UTSW 15 85,818,074 (GRCm38) missense probably benign 0.43
R1588:Pkdrej UTSW 15 85,817,241 (GRCm38) missense probably benign 0.44
R1739:Pkdrej UTSW 15 85,820,427 (GRCm38) missense probably benign 0.03
R1779:Pkdrej UTSW 15 85,821,171 (GRCm38) missense possibly damaging 0.83
R1781:Pkdrej UTSW 15 85,821,171 (GRCm38) missense possibly damaging 0.83
R1828:Pkdrej UTSW 15 85,819,282 (GRCm38) missense possibly damaging 0.48
R1865:Pkdrej UTSW 15 85,820,324 (GRCm38) nonsense probably null
R1870:Pkdrej UTSW 15 85,816,431 (GRCm38) missense probably damaging 1.00
R1937:Pkdrej UTSW 15 85,819,167 (GRCm38) missense probably benign 0.00
R2069:Pkdrej UTSW 15 85,821,231 (GRCm38) missense probably benign 0.01
R2113:Pkdrej UTSW 15 85,818,984 (GRCm38) missense probably damaging 1.00
R2135:Pkdrej UTSW 15 85,816,506 (GRCm38) missense probably damaging 1.00
R2428:Pkdrej UTSW 15 85,817,572 (GRCm38) nonsense probably null
R2991:Pkdrej UTSW 15 85,819,936 (GRCm38) missense probably benign 0.00
R3029:Pkdrej UTSW 15 85,817,004 (GRCm38) missense probably benign 0.16
R3162:Pkdrej UTSW 15 85,816,617 (GRCm38) missense probably damaging 1.00
R3162:Pkdrej UTSW 15 85,816,617 (GRCm38) missense probably damaging 1.00
R3747:Pkdrej UTSW 15 85,821,077 (GRCm38) missense probably damaging 0.96
R3748:Pkdrej UTSW 15 85,821,077 (GRCm38) missense probably damaging 0.96
R3749:Pkdrej UTSW 15 85,821,077 (GRCm38) missense probably damaging 0.96
R4028:Pkdrej UTSW 15 85,817,492 (GRCm38) missense probably benign 0.02
R4169:Pkdrej UTSW 15 85,816,314 (GRCm38) missense probably benign 0.24
R4241:Pkdrej UTSW 15 85,818,144 (GRCm38) missense probably damaging 1.00
R4242:Pkdrej UTSW 15 85,818,144 (GRCm38) missense probably damaging 1.00
R4705:Pkdrej UTSW 15 85,821,167 (GRCm38) nonsense probably null
R4939:Pkdrej UTSW 15 85,820,283 (GRCm38) missense possibly damaging 0.82
R4954:Pkdrej UTSW 15 85,816,401 (GRCm38) missense probably damaging 0.99
R4974:Pkdrej UTSW 15 85,820,409 (GRCm38) missense probably benign 0.00
R4982:Pkdrej UTSW 15 85,818,996 (GRCm38) missense probably damaging 0.99
R5105:Pkdrej UTSW 15 85,816,384 (GRCm38) missense probably damaging 1.00
R5270:Pkdrej UTSW 15 85,818,327 (GRCm38) missense probably damaging 1.00
R5296:Pkdrej UTSW 15 85,817,118 (GRCm38) missense possibly damaging 0.67
R5631:Pkdrej UTSW 15 85,820,437 (GRCm38) missense probably benign
R5909:Pkdrej UTSW 15 85,818,296 (GRCm38) missense possibly damaging 0.82
R5998:Pkdrej UTSW 15 85,815,453 (GRCm38) missense probably benign 0.01
R6037:Pkdrej UTSW 15 85,819,766 (GRCm38) missense probably damaging 0.99
R6037:Pkdrej UTSW 15 85,819,766 (GRCm38) missense probably damaging 0.99
R6125:Pkdrej UTSW 15 85,816,384 (GRCm38) missense probably damaging 1.00
R6270:Pkdrej UTSW 15 85,821,105 (GRCm38) nonsense probably null
R6500:Pkdrej UTSW 15 85,819,546 (GRCm38) missense probably damaging 0.98
R6776:Pkdrej UTSW 15 85,817,309 (GRCm38) nonsense probably null
R6786:Pkdrej UTSW 15 85,818,649 (GRCm38) missense probably benign
R6866:Pkdrej UTSW 15 85,820,881 (GRCm38) missense probably damaging 1.00
R6954:Pkdrej UTSW 15 85,817,853 (GRCm38) nonsense probably null
R7086:Pkdrej UTSW 15 85,820,116 (GRCm38) missense probably damaging 1.00
R7231:Pkdrej UTSW 15 85,816,188 (GRCm38) missense possibly damaging 0.55
R7233:Pkdrej UTSW 15 85,821,148 (GRCm38) missense probably damaging 0.96
R7289:Pkdrej UTSW 15 85,821,100 (GRCm38) missense probably benign
R7549:Pkdrej UTSW 15 85,819,793 (GRCm38) missense probably damaging 1.00
R7582:Pkdrej UTSW 15 85,818,921 (GRCm38) missense possibly damaging 0.92
R7677:Pkdrej UTSW 15 85,815,587 (GRCm38) missense probably benign 0.01
R7791:Pkdrej UTSW 15 85,815,931 (GRCm38) missense possibly damaging 0.87
R7873:Pkdrej UTSW 15 85,816,523 (GRCm38) missense probably benign 0.29
R8121:Pkdrej UTSW 15 85,815,454 (GRCm38) missense probably benign 0.00
R8140:Pkdrej UTSW 15 85,818,410 (GRCm38) missense probably damaging 1.00
R8219:Pkdrej UTSW 15 85,821,292 (GRCm38) missense probably damaging 0.99
R8222:Pkdrej UTSW 15 85,817,439 (GRCm38) missense probably benign
R8432:Pkdrej UTSW 15 85,817,293 (GRCm38) missense probably benign 0.00
R8755:Pkdrej UTSW 15 85,819,606 (GRCm38) missense probably benign 0.00
R8786:Pkdrej UTSW 15 85,819,843 (GRCm38) missense probably benign 0.01
R8817:Pkdrej UTSW 15 85,818,573 (GRCm38) missense probably damaging 1.00
R8827:Pkdrej UTSW 15 85,815,531 (GRCm38) missense possibly damaging 0.76
R8966:Pkdrej UTSW 15 85,817,811 (GRCm38) missense probably damaging 0.99
R8988:Pkdrej UTSW 15 85,816,337 (GRCm38) missense probably damaging 0.99
R9028:Pkdrej UTSW 15 85,816,897 (GRCm38) missense probably damaging 1.00
R9257:Pkdrej UTSW 15 85,815,897 (GRCm38) missense probably damaging 1.00
R9279:Pkdrej UTSW 15 85,816,633 (GRCm38) missense probably damaging 1.00
R9404:Pkdrej UTSW 15 85,819,069 (GRCm38) missense probably benign 0.39
R9433:Pkdrej UTSW 15 85,819,869 (GRCm38) missense probably benign 0.03
R9454:Pkdrej UTSW 15 85,818,219 (GRCm38) missense probably benign 0.05
R9479:Pkdrej UTSW 15 85,815,370 (GRCm38) missense possibly damaging 0.64
R9720:Pkdrej UTSW 15 85,818,296 (GRCm38) missense possibly damaging 0.82
R9748:Pkdrej UTSW 15 85,820,670 (GRCm38) missense possibly damaging 0.91
R9760:Pkdrej UTSW 15 85,821,067 (GRCm38) missense probably benign 0.30
Z1177:Pkdrej UTSW 15 85,816,537 (GRCm38) missense probably damaging 0.99
Posted On 2013-12-09