Incidental Mutation 'IGL01654:Pkd2l1'
ID 102926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l1
Ensembl Gene ENSMUSG00000037578
Gene Name polycystic kidney disease 2-like 1
Synonyms PKD2L, polycystin-L, PCL, TRPP3, Pkdl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01654
Quality Score
Status
Chromosome 19
Chromosomal Location 44136076-44180881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44142662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 460 (N460S)
Ref Sequence ENSEMBL: ENSMUSP00000045675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042026]
AlphaFold A2A259
Predicted Effect probably damaging
Transcript: ENSMUST00000042026
AA Change: N460S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: N460S

DomainStartEndE-ValueType
transmembrane domain 105 127 N/A INTRINSIC
Pfam:PKD_channel 145 567 1.3e-172 PFAM
Pfam:Ion_trans 335 572 1.8e-30 PFAM
low complexity region 592 598 N/A INTRINSIC
SCOP:d2pvba_ 616 676 2e-4 SMART
PDB:4GIF|A 698 739 1e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161357
Coding Region Coverage
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. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,838 (GRCm39) E68V probably damaging Het
Abcb1a T C 5: 8,765,065 (GRCm39) probably null Het
Abcg2 T A 6: 58,660,306 (GRCm39) probably null Het
Adgrf5 T C 17: 43,762,061 (GRCm39) I1252T possibly damaging Het
Apol10b A T 15: 77,472,996 (GRCm39) D19E probably benign Het
Bbs9 T A 9: 22,402,238 (GRCm39) probably null Het
Bod1l T C 5: 41,975,519 (GRCm39) T1932A probably damaging Het
C2cd5 A G 6: 143,027,133 (GRCm39) V124A probably benign Het
Cd151 T A 7: 141,050,275 (GRCm39) I170N probably benign Het
Ckap5 C T 2: 91,407,954 (GRCm39) H827Y probably benign Het
Clk3 C T 9: 57,659,046 (GRCm39) V572M probably damaging Het
Ddrgk1 T C 2: 130,496,629 (GRCm39) D245G probably damaging Het
Enpp5 A G 17: 44,392,066 (GRCm39) D165G possibly damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Fbxw14 T C 9: 109,115,648 (GRCm39) probably benign Het
Fes C T 7: 80,036,558 (GRCm39) probably null Het
Gemin4 A T 11: 76,104,224 (GRCm39) L179H probably damaging Het
Gm3327 A G 14: 44,362,317 (GRCm39) E72G unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Lonp2 T C 8: 87,440,714 (GRCm39) V357A probably damaging Het
Mc2r A G 18: 68,541,143 (GRCm39) I50T probably benign Het
Mmp19 C T 10: 128,634,389 (GRCm39) A310V probably damaging Het
Naip6 C T 13: 100,435,853 (GRCm39) R890Q probably benign Het
Npdc1 T C 2: 25,297,649 (GRCm39) S101P possibly damaging Het
Phldb1 T C 9: 44,629,654 (GRCm39) probably null Het
Pnpo A G 11: 96,834,555 (GRCm39) probably null Het
Prkcq A T 2: 11,288,654 (GRCm39) T536S probably damaging Het
Rft1 T A 14: 30,398,837 (GRCm39) V269E probably damaging Het
Skint4 A T 4: 111,977,254 (GRCm39) I215F probably damaging Het
Slc12a5 G A 2: 164,815,675 (GRCm39) D41N possibly damaging Het
Srp68 T C 11: 116,138,638 (GRCm39) probably benign Het
Wdr17 T C 8: 55,115,914 (GRCm39) T623A probably damaging Het
Zfand2a A G 5: 139,467,823 (GRCm39) probably benign Het
Zfp644 T C 5: 106,783,796 (GRCm39) Y917C probably damaging Het
Zmym6 C T 4: 127,017,519 (GRCm39) S1008L probably damaging Het
Other mutations in Pkd2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Pkd2l1 APN 19 44,146,075 (GRCm39) critical splice donor site probably null
IGL00426:Pkd2l1 APN 19 44,144,044 (GRCm39) missense probably benign 0.21
IGL00848:Pkd2l1 APN 19 44,180,718 (GRCm39) utr 5 prime probably benign
IGL01315:Pkd2l1 APN 19 44,180,635 (GRCm39) missense probably benign 0.09
IGL01786:Pkd2l1 APN 19 44,179,881 (GRCm39) missense probably damaging 0.96
IGL02174:Pkd2l1 APN 19 44,145,707 (GRCm39) missense probably benign 0.04
IGL02648:Pkd2l1 APN 19 44,143,975 (GRCm39) missense possibly damaging 0.72
R0654:Pkd2l1 UTSW 19 44,146,070 (GRCm39) splice site probably null
R0762:Pkd2l1 UTSW 19 44,138,909 (GRCm39) missense probably benign 0.19
R0981:Pkd2l1 UTSW 19 44,142,861 (GRCm39) critical splice donor site probably null
R1114:Pkd2l1 UTSW 19 44,179,983 (GRCm39) splice site probably benign
R1381:Pkd2l1 UTSW 19 44,138,902 (GRCm39) missense probably benign 0.08
R1467:Pkd2l1 UTSW 19 44,142,648 (GRCm39) missense possibly damaging 0.91
R1467:Pkd2l1 UTSW 19 44,142,648 (GRCm39) missense possibly damaging 0.91
R1754:Pkd2l1 UTSW 19 44,144,040 (GRCm39) nonsense probably null
R2009:Pkd2l1 UTSW 19 44,144,403 (GRCm39) missense probably benign 0.01
R2125:Pkd2l1 UTSW 19 44,142,939 (GRCm39) missense possibly damaging 0.91
R2696:Pkd2l1 UTSW 19 44,145,708 (GRCm39) missense probably benign 0.01
R3001:Pkd2l1 UTSW 19 44,143,996 (GRCm39) missense possibly damaging 0.81
R3002:Pkd2l1 UTSW 19 44,143,996 (GRCm39) missense possibly damaging 0.81
R3701:Pkd2l1 UTSW 19 44,145,666 (GRCm39) missense probably damaging 0.99
R4179:Pkd2l1 UTSW 19 44,180,620 (GRCm39) missense probably benign 0.01
R4180:Pkd2l1 UTSW 19 44,180,620 (GRCm39) missense probably benign 0.01
R4614:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4616:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4617:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4618:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4762:Pkd2l1 UTSW 19 44,144,060 (GRCm39) missense probably benign 0.09
R4893:Pkd2l1 UTSW 19 44,142,210 (GRCm39) missense probably benign 0.00
R4907:Pkd2l1 UTSW 19 44,142,581 (GRCm39) missense possibly damaging 0.95
R5004:Pkd2l1 UTSW 19 44,138,016 (GRCm39) missense probably benign 0.00
R5380:Pkd2l1 UTSW 19 44,146,171 (GRCm39) missense probably benign 0.33
R5480:Pkd2l1 UTSW 19 44,180,595 (GRCm39) missense probably benign 0.18
R5950:Pkd2l1 UTSW 19 44,140,529 (GRCm39) missense probably benign 0.27
R6248:Pkd2l1 UTSW 19 44,146,108 (GRCm39) missense probably benign 0.00
R6908:Pkd2l1 UTSW 19 44,140,885 (GRCm39) missense probably damaging 1.00
R6925:Pkd2l1 UTSW 19 44,179,947 (GRCm39) missense possibly damaging 0.92
R7021:Pkd2l1 UTSW 19 44,142,647 (GRCm39) missense probably damaging 0.98
R7322:Pkd2l1 UTSW 19 44,146,129 (GRCm39) missense probably benign 0.00
R7378:Pkd2l1 UTSW 19 44,142,154 (GRCm39) missense probably benign 0.05
R7442:Pkd2l1 UTSW 19 44,145,668 (GRCm39) missense probably benign 0.01
R7636:Pkd2l1 UTSW 19 44,179,870 (GRCm39) missense possibly damaging 0.70
R7954:Pkd2l1 UTSW 19 44,142,651 (GRCm39) missense probably benign 0.15
R7989:Pkd2l1 UTSW 19 44,142,507 (GRCm39) missense probably benign 0.10
R9007:Pkd2l1 UTSW 19 44,140,864 (GRCm39) missense possibly damaging 0.49
R9245:Pkd2l1 UTSW 19 44,143,894 (GRCm39) missense probably benign 0.33
R9675:Pkd2l1 UTSW 19 44,137,696 (GRCm39) missense probably benign 0.00
X0026:Pkd2l1 UTSW 19 44,145,621 (GRCm39) missense probably damaging 1.00
Z1176:Pkd2l1 UTSW 19 44,137,710 (GRCm39) missense probably benign
Posted On 2014-01-21