Incidental Mutation 'IGL03345:Pkd2l2'
ID 417404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Name polycystic kidney disease 2-like 2
Synonyms Polycystin - L2, TRPP5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03345
Quality Score
Status
Chromosome 18
Chromosomal Location 34541553-34575842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34558142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 274 (Y274H)
Ref Sequence ENSEMBL: ENSMUSP00000127257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
AlphaFold Q9JLG4
Predicted Effect probably damaging
Transcript: ENSMUST00000014647
AA Change: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: Y274H

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.8e-129 PFAM
Pfam:Ion_trans 281 490 4.1e-19 PFAM
coiled coil region 523 550 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166156
AA Change: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: Y274H

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.6e-131 PFAM
Pfam:Ion_trans 242 502 4.8e-20 PFAM
coiled coil region 523 550 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,250,163 (GRCm39) W987R probably damaging Het
Adcy5 T C 16: 35,069,184 (GRCm39) V384A probably benign Het
Akap12 T C 10: 4,306,697 (GRCm39) V1169A probably benign Het
Atp8a2 T C 14: 60,011,460 (GRCm39) T950A probably benign Het
Avil T C 10: 126,844,826 (GRCm39) probably benign Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl9 A G 3: 97,116,508 (GRCm39) S729P probably benign Het
C3 T A 17: 57,526,585 (GRCm39) I799F probably damaging Het
Cstf2 C T X: 132,961,794 (GRCm39) R80C probably damaging Het
Degs1l A T 1: 180,882,937 (GRCm39) H233L probably benign Het
Dock7 A G 4: 98,873,056 (GRCm39) F1130S possibly damaging Het
Elapor1 A G 3: 108,399,332 (GRCm39) V86A possibly damaging Het
Fat2 C T 11: 55,173,187 (GRCm39) D2509N probably damaging Het
Fut10 T C 8: 31,750,069 (GRCm39) S452P probably damaging Het
Gabrb1 T A 5: 72,293,908 (GRCm39) M394K possibly damaging Het
Gkn3 T A 6: 87,365,798 (GRCm39) E7V probably null Het
Gpld1 G A 13: 25,171,007 (GRCm39) G803R probably damaging Het
Hipk2 A G 6: 38,724,937 (GRCm39) probably benign Het
Kcnu1 A T 8: 26,371,321 (GRCm39) probably benign Het
Kidins220 A T 12: 25,053,044 (GRCm39) S445C probably damaging Het
Ltbp1 A G 17: 75,373,154 (GRCm39) K266E probably damaging Het
Myh4 A T 11: 67,146,304 (GRCm39) D1454V probably damaging Het
Nrf1 A C 6: 30,089,947 (GRCm39) T9P probably damaging Het
Nt5dc1 T C 10: 34,200,458 (GRCm39) E187G probably benign Het
Obscn T A 11: 58,886,308 (GRCm39) probably benign Het
Rgs8 A G 1: 153,568,556 (GRCm39) K149R probably benign Het
Rinl A G 7: 28,496,222 (GRCm39) E401G possibly damaging Het
Rsbn1 A G 3: 103,822,466 (GRCm39) R234G possibly damaging Het
Slc6a3 A G 13: 73,719,633 (GRCm39) D554G probably benign Het
Slc7a2 A G 8: 41,369,530 (GRCm39) S646G probably benign Het
Syt5 A G 7: 4,545,206 (GRCm39) V231A probably benign Het
Timeless T G 10: 128,083,455 (GRCm39) S695A probably benign Het
Tmem131l G A 3: 83,868,896 (GRCm39) P160S probably damaging Het
Tspear C A 10: 77,710,716 (GRCm39) probably null Het
Ubn1 T A 16: 4,899,828 (GRCm39) H1113Q probably damaging Het
Vmn2r49 T G 7: 9,718,621 (GRCm39) K481T probably damaging Het
Xdh T C 17: 74,213,027 (GRCm39) N872S probably damaging Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34,550,068 (GRCm39) missense probably damaging 1.00
IGL01943:Pkd2l2 APN 18 34,550,089 (GRCm39) missense probably damaging 1.00
IGL02039:Pkd2l2 APN 18 34,568,421 (GRCm39) critical splice donor site probably null
IGL02139:Pkd2l2 APN 18 34,545,768 (GRCm39) nonsense probably null
IGL02480:Pkd2l2 APN 18 34,571,843 (GRCm39) missense possibly damaging 0.48
IGL02742:Pkd2l2 APN 18 34,549,970 (GRCm39) nonsense probably null
IGL02818:Pkd2l2 APN 18 34,545,862 (GRCm39) missense probably damaging 0.97
IGL03218:Pkd2l2 APN 18 34,563,373 (GRCm39) missense probably damaging 1.00
R0362:Pkd2l2 UTSW 18 34,568,380 (GRCm39) missense probably benign 0.03
R0627:Pkd2l2 UTSW 18 34,558,155 (GRCm39) missense probably damaging 1.00
R0883:Pkd2l2 UTSW 18 34,563,321 (GRCm39) splice site probably null
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0974:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R1199:Pkd2l2 UTSW 18 34,571,269 (GRCm39) critical splice donor site probably null
R1529:Pkd2l2 UTSW 18 34,563,755 (GRCm39) missense probably damaging 1.00
R1579:Pkd2l2 UTSW 18 34,560,446 (GRCm39) missense possibly damaging 0.49
R2229:Pkd2l2 UTSW 18 34,563,382 (GRCm39) missense probably damaging 1.00
R3695:Pkd2l2 UTSW 18 34,571,843 (GRCm39) missense possibly damaging 0.48
R4058:Pkd2l2 UTSW 18 34,561,245 (GRCm39) missense probably benign 0.22
R4600:Pkd2l2 UTSW 18 34,571,254 (GRCm39) missense probably benign 0.03
R4651:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R4652:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R5114:Pkd2l2 UTSW 18 34,566,355 (GRCm39) missense probably benign
R5341:Pkd2l2 UTSW 18 34,542,987 (GRCm39) splice site probably null
R5686:Pkd2l2 UTSW 18 34,558,290 (GRCm39) missense probably damaging 1.00
R5920:Pkd2l2 UTSW 18 34,563,826 (GRCm39) missense probably benign
R6061:Pkd2l2 UTSW 18 34,563,742 (GRCm39) missense probably damaging 1.00
R6167:Pkd2l2 UTSW 18 34,561,297 (GRCm39) missense probably damaging 1.00
R6217:Pkd2l2 UTSW 18 34,547,733 (GRCm39) missense probably benign 0.03
R6293:Pkd2l2 UTSW 18 34,560,497 (GRCm39) missense probably damaging 1.00
R6572:Pkd2l2 UTSW 18 34,571,824 (GRCm39) missense probably damaging 0.99
R6574:Pkd2l2 UTSW 18 34,558,134 (GRCm39) missense probably damaging 1.00
R6723:Pkd2l2 UTSW 18 34,571,210 (GRCm39) missense probably damaging 0.98
R6941:Pkd2l2 UTSW 18 34,549,936 (GRCm39) missense probably benign 0.02
R6958:Pkd2l2 UTSW 18 34,542,543 (GRCm39) nonsense probably null
R7052:Pkd2l2 UTSW 18 34,558,212 (GRCm39) missense possibly damaging 0.90
R7695:Pkd2l2 UTSW 18 34,561,298 (GRCm39) missense possibly damaging 0.77
R7763:Pkd2l2 UTSW 18 34,566,340 (GRCm39) critical splice acceptor site probably null
R7777:Pkd2l2 UTSW 18 34,549,913 (GRCm39) missense probably damaging 1.00
R7944:Pkd2l2 UTSW 18 34,560,481 (GRCm39) missense possibly damaging 0.90
R8003:Pkd2l2 UTSW 18 34,561,232 (GRCm39) missense probably damaging 1.00
R8468:Pkd2l2 UTSW 18 34,560,464 (GRCm39) missense possibly damaging 0.88
R8482:Pkd2l2 UTSW 18 34,558,166 (GRCm39) missense possibly damaging 0.52
R8729:Pkd2l2 UTSW 18 34,566,354 (GRCm39) missense probably benign
R8894:Pkd2l2 UTSW 18 34,571,273 (GRCm39) splice site probably benign
R9336:Pkd2l2 UTSW 18 34,561,158 (GRCm39) missense probably damaging 1.00
R9408:Pkd2l2 UTSW 18 34,563,383 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02