Incidental Mutation 'R7549:Pkdrej'
ID 584421
Institutional Source Beutler Lab
Gene Symbol Pkdrej
Ensembl Gene ENSMUSG00000052496
Gene Name polycystin (PKD) family receptor for egg jelly
Synonyms
MMRRC Submission 045620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85814670-85821734 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85819793 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 647 (K647N)
Ref Sequence ENSEMBL: ENSMUSP00000086352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064370]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064370
AA Change: K647N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: K647N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,558,995 (GRCm38) R92S unknown Het
Adam1b A G 5: 121,501,918 (GRCm38) C355R probably damaging Het
Adamtsl3 T C 7: 82,573,909 (GRCm38) L966P probably damaging Het
Aldh18a1 A G 19: 40,564,847 (GRCm38) C486R probably damaging Het
Aqp11 C A 7: 97,738,077 (GRCm38) probably benign Het
Arhgap28 A G 17: 67,871,966 (GRCm38) L350P probably damaging Het
Art3 A G 5: 92,403,655 (GRCm38) Q291R probably benign Het
Asb15 A G 6: 24,559,030 (GRCm38) probably null Het
Bmp8b T C 4: 123,105,655 (GRCm38) I102T possibly damaging Het
Bsn T C 9: 108,114,815 (GRCm38) D1246G probably benign Het
Cass4 G A 2: 172,426,798 (GRCm38) G267S probably benign Het
Cass4 G T 2: 172,426,799 (GRCm38) G267V probably benign Het
Ccr7 T C 11: 99,145,901 (GRCm38) Y65C probably damaging Het
Clstn2 A C 9: 97,582,544 (GRCm38) I186S probably benign Het
Cyp2r1 A G 7: 114,554,644 (GRCm38) I105T possibly damaging Het
Efr3a T A 15: 65,815,413 (GRCm38) probably null Het
Erg A C 16: 95,369,320 (GRCm38) probably null Het
Eya4 A T 10: 23,111,658 (GRCm38) V524E probably damaging Het
Farp1 C A 14: 121,235,177 (GRCm38) N241K possibly damaging Het
Fat1 A T 8: 44,988,994 (GRCm38) Y1111F probably benign Het
Fbn1 T C 2: 125,344,027 (GRCm38) E1607G probably damaging Het
Fbn2 A T 18: 58,020,464 (GRCm38) C2575* probably null Het
Fsip2 A T 2: 82,993,993 (GRCm38) D6690V probably damaging Het
Fzd4 T C 7: 89,407,138 (GRCm38) V131A possibly damaging Het
Gfral T A 9: 76,198,975 (GRCm38) N110I probably benign Het
Glce T C 9: 62,060,993 (GRCm38) D292G probably damaging Het
Gm19410 T A 8: 35,799,346 (GRCm38) I1051K probably benign Het
Gm5773 A T 3: 93,773,016 (GRCm38) probably benign Het
Hcn3 A T 3: 89,150,000 (GRCm38) H430Q probably null Het
Hspa8 T A 9: 40,802,959 (GRCm38) probably null Het
Ifna7 A T 4: 88,816,427 (GRCm38) D67V possibly damaging Het
Kif5c T A 2: 49,701,093 (GRCm38) M319K probably benign Het
Klk7 G T 7: 43,812,773 (GRCm38) probably null Het
Kmt2c T C 5: 25,414,970 (GRCm38) K102E possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 (GRCm38) probably benign Het
Lrp1b C T 2: 40,875,122 (GRCm38) M2897I Het
Lysmd2 T C 9: 75,637,237 (GRCm38) S211P probably damaging Het
Magi1 T G 6: 93,708,114 (GRCm38) E761A probably benign Het
Mbd5 T A 2: 49,251,343 (GRCm38) I106N probably damaging Het
Mdc1 G A 17: 35,848,857 (GRCm38) A669T probably null Het
Mmp1b A G 9: 7,384,753 (GRCm38) I265T probably benign Het
Mmp2 T A 8: 92,836,966 (GRCm38) L356Q probably null Het
Mroh8 A G 2: 157,269,572 (GRCm38) L154P probably benign Het
Muc13 T C 16: 33,799,436 (GRCm38) S185P unknown Het
Nuak1 T A 10: 84,374,539 (GRCm38) I562F probably benign Het
Obscn C A 11: 59,042,838 (GRCm38) probably null Het
Olfr1137 A T 2: 87,711,771 (GRCm38) M45K probably damaging Het
Olfr574 T C 7: 102,948,591 (GRCm38) I42T possibly damaging Het
Olfr827 T C 10: 130,210,984 (GRCm38) M49V probably benign Het
Pex3 T C 10: 13,542,670 (GRCm38) M81V probably benign Het
Pex5l T A 3: 33,082,035 (GRCm38) I12F probably benign Het
Phf3 G T 1: 30,831,475 (GRCm38) T164N probably benign Het
Phpt1 G T 2: 25,574,832 (GRCm38) A3E probably benign Het
Pja2 A T 17: 64,309,415 (GRCm38) L162M probably damaging Het
Ppp2r1a T C 17: 20,962,682 (GRCm38) S543P possibly damaging Het
Prdm13 C A 4: 21,679,072 (GRCm38) D473Y probably damaging Het
Prl6a1 A T 13: 27,318,971 (GRCm38) E183D probably damaging Het
Psmd3 C T 11: 98,690,961 (GRCm38) T304M probably benign Het
Ptpn5 C T 7: 47,086,126 (GRCm38) probably null Het
Rassf6 T G 5: 90,606,802 (GRCm38) I206L probably damaging Het
Rif1 A G 2: 52,078,507 (GRCm38) H234R possibly damaging Het
Rint1 T C 5: 23,815,704 (GRCm38) V575A probably benign Het
Ros1 G A 10: 52,145,834 (GRCm38) T639I probably damaging Het
Ryr2 A G 13: 11,737,985 (GRCm38) F1817L probably benign Het
Ska1 T C 18: 74,200,017 (GRCm38) D110G probably benign Het
Slc25a41 G A 17: 57,033,791 (GRCm38) T227I probably damaging Het
Slc6a15 T C 10: 103,389,137 (GRCm38) S29P probably benign Het
Slc8a3 A T 12: 81,314,770 (GRCm38) I425K probably benign Het
Sox8 T A 17: 25,567,961 (GRCm38) Q256L probably damaging Het
Tarsl2 T C 7: 65,647,593 (GRCm38) V152A probably damaging Het
Tbx10 A T 19: 3,996,651 (GRCm38) T44S probably benign Het
Terb1 T A 8: 104,498,084 (GRCm38) I52F possibly damaging Het
Tes AGCCGGCC AGCC 6: 17,099,741 (GRCm38) probably null Het
Tgm1 A G 14: 55,705,903 (GRCm38) V527A probably benign Het
Tmed10 G T 12: 85,344,262 (GRCm38) Y167* probably null Het
Tmem165 T G 5: 76,208,568 (GRCm38) S318R possibly damaging Het
Trim9 G T 12: 70,346,941 (GRCm38) S76R probably damaging Het
Tti1 A G 2: 158,007,168 (GRCm38) V717A probably damaging Het
Vmn2r86 T A 10: 130,446,828 (GRCm38) I640F probably damaging Het
Vwf A G 6: 125,626,267 (GRCm38) N860S Het
Xirp2 A G 2: 67,508,897 (GRCm38) K494R possibly damaging Het
Zkscan4 G A 13: 21,484,249 (GRCm38) S319N 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
IGL01606:Pkdrej APN 15 85,817,700 (GRCm38) missense possibly damaging 0.67
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
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
Predicted Primers PCR Primer
(F):5'- ATCAGCTTAAGAAGGTTAGACAGACTG -3'
(R):5'- GTCACCATGAAACCGACGTC -3'

Sequencing Primer
(F):5'- TTAGACAGACTGGTTAGGATGCC -3'
(R):5'- TGAAACCGACGTCACTGTTG -3'
Posted On 2019-10-17