Incidental Mutation 'IGL02952:Pkd2'
ID 364972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2
Ensembl Gene ENSMUSG00000034462
Gene Name polycystin 2, transient receptor potential cation channel
Synonyms TRPP2, polycystin-2, C030034P18Rik, PC2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02952
Quality Score
Status
Chromosome 5
Chromosomal Location 104607316-104653685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104628026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 367 (T367S)
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
AlphaFold O35245
Predicted Effect possibly damaging
Transcript: ENSMUST00000086831
AA Change: T367S

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: T367S

DomainStartEndE-ValueType
low complexity region 25 43 N/A INTRINSIC
low complexity region 58 79 N/A INTRINSIC
low complexity region 93 115 N/A INTRINSIC
low complexity region 119 138 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
Pfam:PKD_channel 265 685 1.3e-171 PFAM
Pfam:Ion_trans 454 690 2.6e-25 PFAM
coiled coil region 765 794 N/A INTRINSIC
PDB:3HRN|A 834 893 8e-31 PDB
low complexity region 900 915 N/A INTRINSIC
low complexity region 949 963 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130931
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 is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,984 (GRCm39) D1436V probably damaging Het
Abca7 G T 10: 79,843,242 (GRCm39) R1239L probably damaging Het
Acp2 T C 2: 91,038,788 (GRCm39) probably benign Het
Adamts4 A G 1: 171,078,917 (GRCm39) N179S probably damaging Het
Adgrv1 T C 13: 81,581,755 (GRCm39) D4763G probably benign Het
Atp11b T C 3: 35,882,844 (GRCm39) V633A probably damaging Het
Cadm2 A T 16: 66,461,338 (GRCm39) I342K probably damaging Het
Capn10 T C 1: 92,872,896 (GRCm39) S541P probably damaging Het
Ccnf A G 17: 24,450,299 (GRCm39) L462P possibly damaging Het
Cdc27 T C 11: 104,408,290 (GRCm39) Y546C probably damaging Het
Cep120 G T 18: 53,816,300 (GRCm39) probably benign Het
Cetn2 T C X: 71,957,808 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,609,993 (GRCm39) S469L probably benign Het
Dnah17 G A 11: 117,979,094 (GRCm39) T1766I probably benign Het
Doc2g G A 19: 4,056,719 (GRCm39) G345D possibly damaging Het
Dock4 T C 12: 40,760,902 (GRCm39) probably null Het
Dop1a T A 9: 86,414,975 (GRCm39) probably benign Het
Emilin2 C A 17: 71,587,816 (GRCm39) V99F probably damaging Het
Exoc8 A G 8: 125,624,275 (GRCm39) S31P probably benign Het
Gask1b T C 3: 79,793,646 (GRCm39) L38P probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Gm9742 T A 13: 8,079,930 (GRCm39) noncoding transcript Het
Gpr160 T C 3: 30,950,443 (GRCm39) Y172H probably benign Het
Ifnk T A 4: 35,152,495 (GRCm39) L141Q probably damaging Het
Klhl36 A G 8: 120,597,223 (GRCm39) E308G probably benign Het
Lrp1b T C 2: 41,396,715 (GRCm39) I450M probably benign Het
Noxa1 T C 2: 24,981,773 (GRCm39) Y110C probably damaging Het
Or10ad1 T C 15: 98,105,470 (GRCm39) Y265C probably damaging Het
Polg2 T C 11: 106,663,539 (GRCm39) I385V possibly damaging Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Prr14l A G 5: 32,993,014 (GRCm39) S17P unknown Het
Prss22 C A 17: 24,215,697 (GRCm39) C75F probably damaging Het
Ptgs1 A G 2: 36,141,253 (GRCm39) K567E probably benign Het
Ptprz1 A G 6: 23,036,925 (GRCm39) I1141M probably damaging Het
R3hcc1l A G 19: 42,552,433 (GRCm39) K477E probably damaging Het
Riok1 A G 13: 38,232,866 (GRCm39) Y194C probably damaging Het
Smr2 T A 5: 88,236,095 (GRCm39) C16S possibly damaging Het
Stk25 A T 1: 93,553,798 (GRCm39) I187N probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Vmn2r3 T C 3: 64,186,256 (GRCm39) E143G probably damaging Het
Other mutations in Pkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Pkd2 APN 5 104,631,001 (GRCm39) missense probably damaging 1.00
IGL01527:Pkd2 APN 5 104,646,750 (GRCm39) splice site probably benign
IGL01805:Pkd2 APN 5 104,630,959 (GRCm39) missense probably benign 0.41
IGL02146:Pkd2 APN 5 104,637,157 (GRCm39) missense probably damaging 1.00
IGL02326:Pkd2 APN 5 104,624,941 (GRCm39) missense probably benign 0.38
IGL02481:Pkd2 APN 5 104,634,636 (GRCm39) missense probably damaging 1.00
IGL03026:Pkd2 APN 5 104,642,753 (GRCm39) splice site probably benign
IGL03409:Pkd2 APN 5 104,637,215 (GRCm39) nonsense probably null
Nephro UTSW 5 104,634,672 (GRCm39) missense probably damaging 1.00
reggae UTSW 5 104,625,045 (GRCm39) splice site probably null
samba UTSW 5 104,624,989 (GRCm39) missense probably benign 0.01
IGL02988:Pkd2 UTSW 5 104,651,471 (GRCm39) nonsense probably null
PIT1430001:Pkd2 UTSW 5 104,607,654 (GRCm39) missense probably damaging 0.99
R0020:Pkd2 UTSW 5 104,651,382 (GRCm39) missense probably damaging 1.00
R0020:Pkd2 UTSW 5 104,651,382 (GRCm39) missense probably damaging 1.00
R0045:Pkd2 UTSW 5 104,603,671 (GRCm39) unclassified probably benign
R0070:Pkd2 UTSW 5 104,614,856 (GRCm39) missense probably damaging 0.99
R0070:Pkd2 UTSW 5 104,614,856 (GRCm39) missense probably damaging 0.99
R0315:Pkd2 UTSW 5 104,607,716 (GRCm39) missense possibly damaging 0.94
R0316:Pkd2 UTSW 5 104,625,032 (GRCm39) missense probably damaging 1.00
R0570:Pkd2 UTSW 5 104,603,471 (GRCm39) unclassified probably benign
R1277:Pkd2 UTSW 5 104,650,225 (GRCm39) missense probably damaging 0.97
R1883:Pkd2 UTSW 5 104,631,094 (GRCm39) missense probably damaging 1.00
R1907:Pkd2 UTSW 5 104,634,672 (GRCm39) missense probably damaging 1.00
R1937:Pkd2 UTSW 5 104,626,790 (GRCm39) missense probably damaging 1.00
R2023:Pkd2 UTSW 5 104,614,744 (GRCm39) splice site probably null
R2080:Pkd2 UTSW 5 104,624,989 (GRCm39) missense probably benign 0.01
R2081:Pkd2 UTSW 5 104,608,077 (GRCm39) missense probably benign 0.00
R2098:Pkd2 UTSW 5 104,626,768 (GRCm39) missense probably damaging 1.00
R2117:Pkd2 UTSW 5 104,631,042 (GRCm39) missense probably damaging 1.00
R2146:Pkd2 UTSW 5 104,603,456 (GRCm39) unclassified probably benign
R2163:Pkd2 UTSW 5 104,603,543 (GRCm39) unclassified probably benign
R3401:Pkd2 UTSW 5 104,628,193 (GRCm39) missense possibly damaging 0.68
R3732:Pkd2 UTSW 5 104,637,285 (GRCm39) splice site probably null
R3733:Pkd2 UTSW 5 104,637,285 (GRCm39) splice site probably null
R4409:Pkd2 UTSW 5 104,614,750 (GRCm39) splice site silent
R4582:Pkd2 UTSW 5 104,650,210 (GRCm39) nonsense probably null
R5189:Pkd2 UTSW 5 104,607,785 (GRCm39) missense probably benign 0.22
R5191:Pkd2 UTSW 5 104,634,547 (GRCm39) missense probably benign 0.05
R5195:Pkd2 UTSW 5 104,634,547 (GRCm39) missense probably benign 0.05
R5198:Pkd2 UTSW 5 104,630,958 (GRCm39) missense probably benign 0.06
R5326:Pkd2 UTSW 5 104,634,515 (GRCm39) splice site silent
R5406:Pkd2 UTSW 5 104,628,198 (GRCm39) missense probably damaging 1.00
R5542:Pkd2 UTSW 5 104,634,515 (GRCm39) splice site silent
R5543:Pkd2 UTSW 5 104,637,199 (GRCm39) missense probably damaging 1.00
R5633:Pkd2 UTSW 5 104,646,372 (GRCm39) missense probably damaging 0.98
R5887:Pkd2 UTSW 5 104,646,405 (GRCm39) missense probably damaging 1.00
R5906:Pkd2 UTSW 5 104,625,045 (GRCm39) splice site probably null
R5924:Pkd2 UTSW 5 104,646,424 (GRCm39) missense probably damaging 0.99
R6361:Pkd2 UTSW 5 104,634,546 (GRCm39) nonsense probably null
R6455:Pkd2 UTSW 5 104,607,790 (GRCm39) missense probably benign 0.00
R6495:Pkd2 UTSW 5 104,637,159 (GRCm39) missense probably damaging 1.00
R6735:Pkd2 UTSW 5 104,628,195 (GRCm39) missense probably damaging 1.00
R6837:Pkd2 UTSW 5 104,624,909 (GRCm39) missense probably damaging 1.00
R7192:Pkd2 UTSW 5 104,634,523 (GRCm39) missense probably benign 0.00
R7477:Pkd2 UTSW 5 104,631,108 (GRCm39) missense probably benign 0.19
R7560:Pkd2 UTSW 5 104,628,219 (GRCm39) missense probably damaging 1.00
R7867:Pkd2 UTSW 5 104,630,986 (GRCm39) missense probably damaging 1.00
R7894:Pkd2 UTSW 5 104,628,103 (GRCm39) missense probably damaging 1.00
R8251:Pkd2 UTSW 5 104,646,353 (GRCm39) missense probably benign 0.01
R8360:Pkd2 UTSW 5 104,607,653 (GRCm39) nonsense probably null
R8368:Pkd2 UTSW 5 104,607,653 (GRCm39) nonsense probably null
R8526:Pkd2 UTSW 5 104,637,102 (GRCm39) missense probably damaging 1.00
R8751:Pkd2 UTSW 5 104,637,151 (GRCm39) missense probably damaging 1.00
R8956:Pkd2 UTSW 5 104,631,090 (GRCm39) missense probably damaging 1.00
R9101:Pkd2 UTSW 5 104,628,230 (GRCm39) missense probably damaging 1.00
R9271:Pkd2 UTSW 5 104,626,959 (GRCm39) splice site probably null
R9452:Pkd2 UTSW 5 104,614,841 (GRCm39) missense probably damaging 1.00
R9459:Pkd2 UTSW 5 104,614,800 (GRCm39) missense probably damaging 1.00
R9541:Pkd2 UTSW 5 104,607,927 (GRCm39) missense probably damaging 0.98
R9671:Pkd2 UTSW 5 104,637,256 (GRCm39) missense probably damaging 1.00
R9682:Pkd2 UTSW 5 104,626,790 (GRCm39) missense probably damaging 1.00
R9737:Pkd2 UTSW 5 104,651,349 (GRCm39) missense possibly damaging 0.92
Z1088:Pkd2 UTSW 5 104,646,727 (GRCm39) missense probably damaging 1.00
Z1176:Pkd2 UTSW 5 104,607,915 (GRCm39) missense probably benign 0.43
Posted On 2015-12-18