Incidental Mutation 'R2517:Pkd1l1'
ID 476593
Institutional Source Beutler Lab
Gene Symbol Pkd1l1
Ensembl Gene ENSMUSG00000046634
Gene Name polycystic kidney disease 1 like 1
Synonyms
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 8782025-8924365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8908900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 368 (E368G)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000154153
AA Change: E368G
SMART Domains Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: E368G

DomainStartEndE-ValueType
low complexity region 172 184 N/A INTRINSIC
PKD 205 287 2.9e0 SMART
PKD 291 369 1.42e-9 SMART
Pfam:REJ 398 1001 1.7e-45 PFAM
low complexity region 1208 1218 N/A INTRINSIC
GPS 1370 1413 1.21e-1 SMART
transmembrane domain 1434 1451 N/A INTRINSIC
LH2 1479 1598 2.94e-3 SMART
transmembrane domain 1640 1659 N/A INTRINSIC
transmembrane domain 1679 1701 N/A INTRINSIC
transmembrane domain 1817 1839 N/A INTRINSIC
transmembrane domain 1854 1876 N/A INTRINSIC
Pfam:PKD_channel 2109 2339 1.5e-23 PFAM
transmembrane domain 2381 2403 N/A INTRINSIC
low complexity region 2436 2449 N/A INTRINSIC
low complexity region 2458 2469 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Cog3 T C 14: 75,979,182 (GRCm39) D188G probably benign Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Gnl3 A G 14: 30,736,120 (GRCm39) S307P probably damaging Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klf10 A C 15: 38,297,357 (GRCm39) Y228D probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or1x6 T A 11: 50,939,300 (GRCm39) L122Q probably damaging Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tecr C T 8: 84,299,204 (GRCm39) V248I probably benign Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A probably damaging Het
Other mutations in Pkd1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Pkd1l1 APN 11 8,911,971 (GRCm39) missense unknown
IGL00156:Pkd1l1 APN 11 8,900,515 (GRCm39) missense probably damaging 1.00
IGL00161:Pkd1l1 APN 11 8,879,353 (GRCm39) critical splice donor site probably null
IGL00489:Pkd1l1 APN 11 8,784,773 (GRCm39) critical splice donor site probably null
IGL00495:Pkd1l1 APN 11 8,818,493 (GRCm39) missense probably benign 0.34
IGL00983:Pkd1l1 APN 11 8,794,585 (GRCm39) missense probably benign
IGL01071:Pkd1l1 APN 11 8,798,921 (GRCm39) missense probably benign 0.00
IGL01093:Pkd1l1 APN 11 8,851,345 (GRCm39) missense probably benign 0.06
IGL01295:Pkd1l1 APN 11 8,883,685 (GRCm39) missense possibly damaging 0.93
IGL01311:Pkd1l1 APN 11 8,851,174 (GRCm39) missense possibly damaging 0.53
IGL01412:Pkd1l1 APN 11 8,900,409 (GRCm39) missense possibly damaging 0.73
IGL01978:Pkd1l1 APN 11 8,911,336 (GRCm39) missense unknown
IGL01999:Pkd1l1 APN 11 8,786,291 (GRCm39) missense probably benign
IGL02080:Pkd1l1 APN 11 8,911,345 (GRCm39) missense unknown
IGL02106:Pkd1l1 APN 11 8,783,800 (GRCm39) missense probably damaging 1.00
IGL02216:Pkd1l1 APN 11 8,784,897 (GRCm39) missense probably damaging 0.96
IGL02305:Pkd1l1 APN 11 8,852,467 (GRCm39) missense probably benign
IGL02337:Pkd1l1 APN 11 8,892,079 (GRCm39) missense probably damaging 1.00
IGL02576:Pkd1l1 APN 11 8,794,560 (GRCm39) missense possibly damaging 0.61
IGL02704:Pkd1l1 APN 11 8,784,910 (GRCm39) missense probably benign 0.00
IGL02814:Pkd1l1 APN 11 8,852,582 (GRCm39) missense probably benign 0.01
IGL02904:Pkd1l1 APN 11 8,818,450 (GRCm39) splice site probably benign
IGL02972:Pkd1l1 APN 11 8,813,908 (GRCm39) missense probably damaging 0.99
IGL03091:Pkd1l1 APN 11 8,805,564 (GRCm39) missense probably damaging 1.00
IGL03113:Pkd1l1 APN 11 8,784,793 (GRCm39) missense probably benign 0.20
IGL03210:Pkd1l1 APN 11 8,915,127 (GRCm39) missense unknown
PIT4581001:Pkd1l1 UTSW 11 8,866,298 (GRCm39) frame shift probably null
R0020:Pkd1l1 UTSW 11 8,825,765 (GRCm39) splice site probably benign
R0020:Pkd1l1 UTSW 11 8,825,765 (GRCm39) splice site probably benign
R0496:Pkd1l1 UTSW 11 8,879,430 (GRCm39) missense probably damaging 0.96
R0547:Pkd1l1 UTSW 11 8,786,448 (GRCm39) splice site probably benign
R0582:Pkd1l1 UTSW 11 8,881,699 (GRCm39) splice site probably benign
R0761:Pkd1l1 UTSW 11 8,804,375 (GRCm39) missense probably damaging 1.00
R0969:Pkd1l1 UTSW 11 8,886,898 (GRCm39) missense probably damaging 1.00
R1348:Pkd1l1 UTSW 11 8,784,806 (GRCm39) missense probably benign 0.18
R1366:Pkd1l1 UTSW 11 8,891,038 (GRCm39) splice site probably benign
R1401:Pkd1l1 UTSW 11 8,804,487 (GRCm39) nonsense probably null
R1444:Pkd1l1 UTSW 11 8,804,386 (GRCm39) missense probably damaging 1.00
R1445:Pkd1l1 UTSW 11 8,820,313 (GRCm39) missense probably benign 0.00
R1463:Pkd1l1 UTSW 11 8,866,302 (GRCm39) missense probably damaging 1.00
R1496:Pkd1l1 UTSW 11 8,891,077 (GRCm39) missense possibly damaging 0.95
R1542:Pkd1l1 UTSW 11 8,824,179 (GRCm39) missense possibly damaging 0.82
R1543:Pkd1l1 UTSW 11 8,851,200 (GRCm39) missense probably damaging 1.00
R1619:Pkd1l1 UTSW 11 8,900,413 (GRCm39) missense probably damaging 0.98
R1875:Pkd1l1 UTSW 11 8,794,670 (GRCm39) splice site probably benign
R1929:Pkd1l1 UTSW 11 8,786,197 (GRCm39) splice site probably benign
R1958:Pkd1l1 UTSW 11 8,824,161 (GRCm39) missense probably benign 0.01
R2223:Pkd1l1 UTSW 11 8,900,422 (GRCm39) missense probably benign
R2223:Pkd1l1 UTSW 11 8,839,063 (GRCm39) missense probably benign 0.18
R2264:Pkd1l1 UTSW 11 8,829,112 (GRCm39) missense probably damaging 0.97
R2349:Pkd1l1 UTSW 11 8,776,819 (GRCm39) splice site probably null
R2431:Pkd1l1 UTSW 11 8,897,197 (GRCm39) missense probably damaging 0.99
R2483:Pkd1l1 UTSW 11 8,912,701 (GRCm39) missense probably damaging 1.00
R2888:Pkd1l1 UTSW 11 8,897,251 (GRCm39) missense probably damaging 1.00
R2965:Pkd1l1 UTSW 11 8,824,236 (GRCm39) missense probably damaging 1.00
R3123:Pkd1l1 UTSW 11 8,923,021 (GRCm39) missense unknown
R3153:Pkd1l1 UTSW 11 8,817,207 (GRCm39) missense probably benign 0.01
R3840:Pkd1l1 UTSW 11 8,839,050 (GRCm39) missense probably damaging 1.00
R3855:Pkd1l1 UTSW 11 8,915,047 (GRCm39) critical splice donor site probably null
R3880:Pkd1l1 UTSW 11 8,911,983 (GRCm39) missense unknown
R3970:Pkd1l1 UTSW 11 8,824,218 (GRCm39) missense probably damaging 1.00
R4195:Pkd1l1 UTSW 11 8,859,929 (GRCm39) missense probably damaging 1.00
R4196:Pkd1l1 UTSW 11 8,859,929 (GRCm39) missense probably damaging 1.00
R4246:Pkd1l1 UTSW 11 8,815,543 (GRCm39) missense possibly damaging 0.51
R4247:Pkd1l1 UTSW 11 8,815,543 (GRCm39) missense possibly damaging 0.51
R4249:Pkd1l1 UTSW 11 8,815,543 (GRCm39) missense possibly damaging 0.51
R4250:Pkd1l1 UTSW 11 8,815,543 (GRCm39) missense possibly damaging 0.51
R4593:Pkd1l1 UTSW 11 8,851,253 (GRCm39) missense probably damaging 0.97
R4609:Pkd1l1 UTSW 11 8,908,964 (GRCm39) missense unknown
R4797:Pkd1l1 UTSW 11 8,911,340 (GRCm39) missense unknown
R4910:Pkd1l1 UTSW 11 8,879,360 (GRCm39) missense possibly damaging 0.50
R4940:Pkd1l1 UTSW 11 8,794,585 (GRCm39) missense probably benign
R5084:Pkd1l1 UTSW 11 8,892,004 (GRCm39) missense probably benign 0.05
R5147:Pkd1l1 UTSW 11 8,799,003 (GRCm39) missense possibly damaging 0.71
R5360:Pkd1l1 UTSW 11 8,829,204 (GRCm39) missense probably benign
R5483:Pkd1l1 UTSW 11 8,851,141 (GRCm39) critical splice donor site probably null
R5604:Pkd1l1 UTSW 11 8,783,877 (GRCm39) missense probably damaging 0.98
R5642:Pkd1l1 UTSW 11 8,829,202 (GRCm39) missense probably damaging 1.00
R5652:Pkd1l1 UTSW 11 8,859,889 (GRCm39) missense probably benign 0.03
R5751:Pkd1l1 UTSW 11 8,817,204 (GRCm39) missense possibly damaging 0.45
R5761:Pkd1l1 UTSW 11 8,866,301 (GRCm39) missense probably damaging 1.00
R5800:Pkd1l1 UTSW 11 8,811,302 (GRCm39) missense probably benign
R5874:Pkd1l1 UTSW 11 8,858,688 (GRCm39) missense probably damaging 1.00
R5897:Pkd1l1 UTSW 11 8,829,176 (GRCm39) missense probably benign 0.03
R5913:Pkd1l1 UTSW 11 8,813,849 (GRCm39) missense probably benign 0.00
R5930:Pkd1l1 UTSW 11 8,908,969 (GRCm39) missense unknown
R6000:Pkd1l1 UTSW 11 8,900,427 (GRCm39) missense probably benign 0.00
R6005:Pkd1l1 UTSW 11 8,807,113 (GRCm39) missense probably damaging 1.00
R6013:Pkd1l1 UTSW 11 8,819,452 (GRCm39) splice site probably null
R6027:Pkd1l1 UTSW 11 8,866,272 (GRCm39) nonsense probably null
R6028:Pkd1l1 UTSW 11 8,786,267 (GRCm39) missense probably benign 0.06
R6129:Pkd1l1 UTSW 11 8,818,543 (GRCm39) missense probably benign 0.00
R6182:Pkd1l1 UTSW 11 8,815,555 (GRCm39) missense probably benign 0.36
R6226:Pkd1l1 UTSW 11 8,851,287 (GRCm39) missense probably benign 0.00
R6257:Pkd1l1 UTSW 11 8,892,195 (GRCm39) missense probably benign 0.22
R6340:Pkd1l1 UTSW 11 8,794,649 (GRCm39) missense probably benign 0.09
R6478:Pkd1l1 UTSW 11 8,813,911 (GRCm39) missense probably benign 0.00
R6558:Pkd1l1 UTSW 11 8,839,052 (GRCm39) missense probably benign 0.00
R6750:Pkd1l1 UTSW 11 8,923,217 (GRCm39) missense unknown
R6987:Pkd1l1 UTSW 11 8,852,575 (GRCm39) missense probably benign 0.01
R6996:Pkd1l1 UTSW 11 8,799,046 (GRCm39) missense probably damaging 1.00
R7139:Pkd1l1 UTSW 11 8,840,737 (GRCm39) missense
R7224:Pkd1l1 UTSW 11 8,895,241 (GRCm39) missense
R7244:Pkd1l1 UTSW 11 8,821,771 (GRCm39) missense
R7265:Pkd1l1 UTSW 11 8,879,402 (GRCm39) missense
R7358:Pkd1l1 UTSW 11 8,895,202 (GRCm39) missense
R7387:Pkd1l1 UTSW 11 8,851,203 (GRCm39) missense
R7414:Pkd1l1 UTSW 11 8,866,267 (GRCm39) missense
R7459:Pkd1l1 UTSW 11 8,852,428 (GRCm39) missense
R7478:Pkd1l1 UTSW 11 8,879,441 (GRCm39) missense
R7485:Pkd1l1 UTSW 11 8,915,148 (GRCm39) missense
R7490:Pkd1l1 UTSW 11 8,866,265 (GRCm39) missense
R7644:Pkd1l1 UTSW 11 8,825,758 (GRCm39) missense
R7647:Pkd1l1 UTSW 11 8,897,296 (GRCm39) missense
R7676:Pkd1l1 UTSW 11 8,912,708 (GRCm39) missense
R7687:Pkd1l1 UTSW 11 8,804,390 (GRCm39) missense
R7699:Pkd1l1 UTSW 11 8,915,142 (GRCm39) missense
R7922:Pkd1l1 UTSW 11 8,859,857 (GRCm39) missense
R7922:Pkd1l1 UTSW 11 8,799,013 (GRCm39) missense
R7980:Pkd1l1 UTSW 11 8,804,375 (GRCm39) missense probably damaging 1.00
R7993:Pkd1l1 UTSW 11 8,895,262 (GRCm39) missense
R8052:Pkd1l1 UTSW 11 8,897,315 (GRCm39) missense
R8125:Pkd1l1 UTSW 11 8,897,241 (GRCm39) missense probably damaging 1.00
R8420:Pkd1l1 UTSW 11 8,820,277 (GRCm39) nonsense probably null
R8675:Pkd1l1 UTSW 11 8,798,916 (GRCm39) critical splice donor site probably null
R8683:Pkd1l1 UTSW 11 8,821,805 (GRCm39) missense
R8709:Pkd1l1 UTSW 11 8,805,567 (GRCm39) missense
R8711:Pkd1l1 UTSW 11 8,815,550 (GRCm39) missense
R8725:Pkd1l1 UTSW 11 8,911,482 (GRCm39) missense
R8733:Pkd1l1 UTSW 11 8,883,657 (GRCm39) missense
R8822:Pkd1l1 UTSW 11 8,806,312 (GRCm39) missense
R8871:Pkd1l1 UTSW 11 8,900,503 (GRCm39) missense
R9009:Pkd1l1 UTSW 11 8,881,552 (GRCm39) missense
R9099:Pkd1l1 UTSW 11 8,922,986 (GRCm39) missense
R9119:Pkd1l1 UTSW 11 8,829,107 (GRCm39) missense
R9150:Pkd1l1 UTSW 11 8,786,256 (GRCm39) missense
R9314:Pkd1l1 UTSW 11 8,829,153 (GRCm39) missense
R9341:Pkd1l1 UTSW 11 8,911,305 (GRCm39) missense
R9341:Pkd1l1 UTSW 11 8,786,399 (GRCm39) missense
R9343:Pkd1l1 UTSW 11 8,911,305 (GRCm39) missense
R9343:Pkd1l1 UTSW 11 8,786,399 (GRCm39) missense
R9392:Pkd1l1 UTSW 11 8,794,567 (GRCm39) missense
R9424:Pkd1l1 UTSW 11 8,820,091 (GRCm39) missense
R9496:Pkd1l1 UTSW 11 8,783,773 (GRCm39) critical splice donor site probably null
R9504:Pkd1l1 UTSW 11 8,815,631 (GRCm39) missense
R9563:Pkd1l1 UTSW 11 8,815,502 (GRCm39) missense
R9570:Pkd1l1 UTSW 11 8,840,697 (GRCm39) missense
R9585:Pkd1l1 UTSW 11 8,804,390 (GRCm39) missense
R9618:Pkd1l1 UTSW 11 8,911,420 (GRCm39) missense
R9709:Pkd1l1 UTSW 11 8,799,016 (GRCm39) missense probably damaging 0.98
R9741:Pkd1l1 UTSW 11 8,897,224 (GRCm39) missense
R9801:Pkd1l1 UTSW 11 8,908,964 (GRCm39) nonsense probably null
X0024:Pkd1l1 UTSW 11 8,900,413 (GRCm39) missense probably benign 0.01
X0063:Pkd1l1 UTSW 11 8,879,430 (GRCm39) missense probably damaging 0.96
X0065:Pkd1l1 UTSW 11 8,859,921 (GRCm39) missense probably benign 0.10
Z1176:Pkd1l1 UTSW 11 8,776,801 (GRCm39) missense
Z1177:Pkd1l1 UTSW 11 8,895,208 (GRCm39) missense
Predicted Primers
Posted On 2017-05-11