Incidental Mutation 'R7478:Pkd1l1'
ID 579618
Institutional Source Beutler Lab
Gene Symbol Pkd1l1
Ensembl Gene ENSMUSG00000046634
Gene Name polycystic kidney disease 1 like 1
Synonyms
MMRRC Submission 045552-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7478 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 8782025-8924365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8879441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 920 (N920S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178195]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: N920S

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000178195
AA Change: N470S

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136518
Gene: ENSMUSG00000046634
AA Change: N470S

DomainStartEndE-ValueType
Pfam:REJ 3 552 3.3e-41 PFAM
low complexity region 757 767 N/A INTRINSIC
Blast:GPS 919 965 2e-13 BLAST
transmembrane domain 983 1000 N/A INTRINSIC
Pfam:PLAT 1030 1145 7.2e-14 PFAM
transmembrane domain 1189 1208 N/A INTRINSIC
transmembrane domain 1228 1250 N/A INTRINSIC
transmembrane domain 1366 1388 N/A INTRINSIC
transmembrane domain 1403 1425 N/A INTRINSIC
Pfam:PKD_channel 1658 1889 2e-25 PFAM
transmembrane domain 1930 1952 N/A INTRINSIC
low complexity region 1985 1998 N/A INTRINSIC
low complexity region 2007 2018 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A G 6: 29,903,266 (GRCm39) R516G probably damaging Het
Ak9 T C 10: 41,265,087 (GRCm39) F948S Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Ankrd34a T C 3: 96,505,816 (GRCm39) L340P possibly damaging Het
Arid1a T A 4: 133,412,482 (GRCm39) R1186W unknown Het
Arpc4 T A 6: 113,361,092 (GRCm39) M95K possibly damaging Het
Atrnl1 A G 19: 57,684,744 (GRCm39) E790G possibly damaging Het
C130074G19Rik T C 1: 184,606,624 (GRCm39) N103D probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap2 T C 1: 136,198,678 (GRCm39) T782A Het
Catsperd A G 17: 56,971,055 (GRCm39) I706M probably benign Het
Cbx2 T C 11: 118,919,941 (GRCm39) V502A probably damaging Het
Cd72 T G 4: 43,454,515 (GRCm39) I5L possibly damaging Het
Celsr3 A G 9: 108,720,777 (GRCm39) Y2609C probably benign Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Efcc1 T C 6: 87,707,972 (GRCm39) V33A probably damaging Het
Eif4enif1 T A 11: 3,177,709 (GRCm39) L367* probably null Het
Eml2 T A 7: 18,940,066 (GRCm39) L627* probably null Het
F13b A G 1: 139,435,433 (GRCm39) T193A probably benign Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Ifna7 T A 4: 88,734,913 (GRCm39) I150N probably damaging Het
Man2b2 G A 5: 36,967,657 (GRCm39) H904Y probably damaging Het
Midn A G 10: 79,991,156 (GRCm39) T389A possibly damaging Het
Myo19 A T 11: 84,776,626 (GRCm39) H94L probably benign Het
Naglu T C 11: 100,962,725 (GRCm39) Y177H probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nxn A T 11: 76,152,378 (GRCm39) V372E probably damaging Het
Obscn G A 11: 58,984,242 (GRCm39) R1738C probably damaging Het
Pcm1 A G 8: 41,714,410 (GRCm39) E266G probably benign Het
Pkd1l3 C A 8: 110,359,947 (GRCm39) T944K probably damaging Het
Prl7d1 C A 13: 27,894,168 (GRCm39) E133* probably null Het
Qser1 G A 2: 104,619,859 (GRCm39) L228F probably damaging Het
Rasa3 A G 8: 13,664,605 (GRCm39) I69T possibly damaging Het
Rb1 A T 14: 73,506,577 (GRCm39) S391T probably damaging Het
Rnf220 T C 4: 117,153,333 (GRCm39) Y301C possibly damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slfn5 A G 11: 82,851,442 (GRCm39) K580E probably damaging Het
Stard4 T C 18: 33,338,377 (GRCm39) Y111C unknown Het
Tagap C A 17: 8,152,422 (GRCm39) Q536K possibly damaging Het
Tank T C 2: 61,480,513 (GRCm39) C351R probably damaging Het
Tarbp2 A T 15: 102,430,169 (GRCm39) M144L probably benign Het
Tdrd9 T C 12: 111,951,476 (GRCm39) Y89H probably damaging Het
Tecpr2 C A 12: 110,934,873 (GRCm39) T1373K probably benign Het
Tle1 G A 4: 72,055,349 (GRCm39) P434L probably damaging Het
Tmed5 A G 5: 108,272,495 (GRCm39) V201A probably benign Het
Ust A G 10: 8,266,650 (GRCm39) probably null Het
Vmn2r94 T C 17: 18,477,767 (GRCm39) T215A probably benign Het
Zfp273 A T 13: 67,973,251 (GRCm39) Q126H probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
R2517:Pkd1l1 UTSW 11 8,908,900 (GRCm39) missense unknown
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
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 PCR Primer
(F):5'- GATTGATTGACTACCCACCTCGG -3'
(R):5'- GCTGTAACACATGAGCAGC -3'

Sequencing Primer
(F):5'- CCTCGGGGGTCTTTCAATAG -3'
(R):5'- CATGAGCAGCAGTGGCCATG -3'
Posted On 2019-10-07