Incidental Mutation 'R7677:Pkdrej'
ID 592534
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 # R7677 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85698877-85705934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85699788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2049 (D2049E)
Ref Sequence ENSEMBL: ENSMUSP00000086352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064370] [ENSMUST00000071876] [ENSMUST00000125947] [ENSMUST00000134631] [ENSMUST00000144067] [ENSMUST00000150995] [ENSMUST00000154814]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064370
AA Change: D2049E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: D2049E

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
Predicted Effect probably benign
Transcript: ENSMUST00000071876
SMART Domains Protein: ENSMUSP00000071772
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 106 3.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125947
SMART Domains Protein: ENSMUSP00000114528
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 109 1.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134631
SMART Domains Protein: ENSMUSP00000121889
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 109 1.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144067
SMART Domains Protein: ENSMUSP00000119728
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 109 1.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150995
SMART Domains Protein: ENSMUSP00000123174
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 109 1.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154814
SMART Domains Protein: ENSMUSP00000116823
Gene: ENSMUSG00000064284

DomainStartEndE-ValueType
Pfam:C6_DPF 13 78 1e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,349 (GRCm39) R2699* probably null Het
Adra2a G A 19: 54,035,375 (GRCm39) V244M probably damaging Het
Apba2 A G 7: 64,344,845 (GRCm39) S12G probably benign Het
Arhgap20 T A 9: 51,751,698 (GRCm39) M383K probably damaging Het
Armc12 T C 17: 28,756,865 (GRCm39) V210A probably benign Het
Ash1l A T 3: 88,950,500 (GRCm39) H2131L probably damaging Het
Atg5 T C 10: 44,223,035 (GRCm39) L219P probably damaging Het
Atp2c2 A T 8: 120,474,915 (GRCm39) M507L probably benign Het
Atr T A 9: 95,767,515 (GRCm39) L1191I probably damaging Het
B4galt5 T C 2: 167,146,998 (GRCm39) T279A probably damaging Het
Bglap2 T C 3: 88,285,280 (GRCm39) E62G probably damaging Het
Card6 A G 15: 5,127,926 (GRCm39) S1157P unknown Het
Ccdc17 T C 4: 116,454,962 (GRCm39) probably null Het
Cdc6 T A 11: 98,810,191 (GRCm39) L500* probably null Het
Dst G T 1: 34,208,403 (GRCm39) probably null Het
Fbxw7 C T 3: 84,811,373 (GRCm39) T166I Het
Fer1l6 T C 15: 58,474,139 (GRCm39) V955A probably benign Het
Fezf2 T C 14: 12,344,941 (GRCm38) E82G probably benign Het
Flii T C 11: 60,610,971 (GRCm39) D486G probably damaging Het
Fndc3a T C 14: 72,804,854 (GRCm39) T476A probably benign Het
Gbp3 C T 3: 142,266,264 (GRCm39) probably benign Het
Hebp2 T C 10: 18,421,547 (GRCm39) probably benign Het
Hhipl2 T A 1: 183,204,951 (GRCm39) M88K possibly damaging Het
Hip1 A G 5: 135,459,171 (GRCm39) C605R probably benign Het
Hoxd13 T C 2: 74,498,909 (GRCm39) S86P probably benign Het
Hspa12a G T 19: 58,849,317 (GRCm39) A2E probably benign Het
Il1rl1 A C 1: 40,485,864 (GRCm39) *338C probably null Het
Lrrc37a G T 11: 103,390,464 (GRCm39) P1654T probably benign Het
Mybpc3 A T 2: 90,959,376 (GRCm39) D704V probably benign Het
Napsa A T 7: 44,231,130 (GRCm39) K120* probably null Het
Nat3 A C 8: 68,000,139 (GRCm39) Y6S probably damaging Het
Negr1 C T 3: 156,774,823 (GRCm39) Q180* probably null Het
Nynrin T A 14: 56,107,693 (GRCm39) D933E probably benign Het
Or10al3 T A 17: 38,011,957 (GRCm39) I132K probably damaging Het
Or10c1 A T 17: 37,522,386 (GRCm39) Y119* probably null Het
Or2l5 G A 16: 19,333,678 (GRCm39) A236V probably benign Het
Or6k2 A T 1: 173,986,614 (GRCm39) I92F probably damaging Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Or8c16 T A 9: 38,130,324 (GRCm39) N65K probably damaging Het
Or9s23 C T 1: 92,500,983 (GRCm39) T30I not run Het
Pbx1 A T 1: 168,030,995 (GRCm39) F208I probably damaging Het
Pcdha11 T C 18: 37,144,605 (GRCm39) V232A probably damaging Het
Pcsk5 A G 19: 17,558,593 (GRCm39) Y605H possibly damaging Het
Pde3a T A 6: 141,195,983 (GRCm39) L223Q probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm2 G A 5: 124,261,632 (GRCm39) R977C probably damaging Het
Psmd6 T C 14: 14,120,837 (GRCm38) D16G probably benign Het
Pth2r C A 1: 65,427,605 (GRCm39) T426N probably benign Het
Ralgapa1 G T 12: 55,705,928 (GRCm39) L1865M probably damaging Het
Ryr3 T A 2: 112,664,245 (GRCm39) Q1702L probably benign Het
Sars2 A G 7: 28,446,176 (GRCm39) Y135C probably benign Het
Sdha G A 13: 74,481,172 (GRCm39) R345* probably null Het
Selp A T 1: 163,961,525 (GRCm39) S413C probably damaging Het
Sirt2 G A 7: 28,484,835 (GRCm39) C221Y probably damaging Het
Skic2 A T 17: 35,067,140 (GRCm39) S100T probably benign Het
Socs7 C A 11: 97,280,468 (GRCm39) Q566K probably benign Het
Spdye4c G A 2: 128,436,056 (GRCm39) V151M probably benign Het
Srcap A G 7: 127,158,980 (GRCm39) D2952G unknown Het
Srd5a2 A T 17: 74,354,749 (GRCm39) L25Q probably damaging Het
Srrt A T 5: 137,298,410 (GRCm39) V254D probably damaging Het
Tap2 T C 17: 34,424,494 (GRCm39) F76L probably benign Het
Tdpoz4 T A 3: 93,704,815 (GRCm39) *371R probably null Het
Tm9sf3 A T 19: 41,209,743 (GRCm39) F441I probably damaging Het
Tmem259 C T 10: 79,814,414 (GRCm39) R314Q probably damaging Het
Trim28 G T 7: 12,762,040 (GRCm39) R312L possibly damaging Het
Tsc1 A G 2: 28,562,829 (GRCm39) T393A probably benign Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube2v2 T C 16: 15,398,964 (GRCm39) T42A probably benign Het
Vmn2r-ps158 A C 7: 42,674,163 (GRCm39) H414P probably damaging Het
Zfp609 A T 9: 65,604,456 (GRCm39) S1342R possibly damaging Het
Zg16 A T 7: 126,649,763 (GRCm39) V66E 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
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'- AACCGGCGAGTATTCTTCTCC -3'
(R):5'- CATGTACGTAGCTTTTGGGTAC -3'

Sequencing Primer
(F):5'- TTCTCCGGCTGCCCATAGAG -3'
(R):5'- GTTCGGTCAGCATGAATGGAATTAC -3'
Posted On 2019-11-12