Incidental Mutation 'IGL01704:Trpv5'
ID104533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv5
Ensembl Gene ENSMUSG00000036899
Gene Nametransient receptor potential cation channel, subfamily V, member 5
SynonymsECaC1, CaT2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL01704
Quality Score
Status
Chromosome6
Chromosomal Location41652173-41680769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41653258 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 633 (S633T)
Ref Sequence ENSEMBL: ENSMUSP00000141421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]
Predicted Effect probably benign
Transcript: ENSMUST00000031901
AA Change: S682T

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: S682T

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 2.3e0 SMART
ANK 110 139 4.56e-4 SMART
ANK 156 185 1.85e-4 SMART
Blast:ANK 189 217 3e-10 BLAST
ANK 232 261 3.07e2 SMART
Pfam:Ion_trans 321 583 1.8e-19 PFAM
low complexity region 676 691 N/A INTRINSIC
low complexity region 708 719 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000193503
AA Change: S633T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: S633T

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 1.5e-2 SMART
ANK 110 139 2.8e-6 SMART
ANK 156 185 1.2e-6 SMART
Blast:ANK 189 217 4e-10 BLAST
transmembrane domain 274 296 N/A INTRINSIC
Pfam:Ion_trans 335 522 2.7e-12 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
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 is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brsk1 A G 7: 4,704,261 E271G probably benign Het
Card9 A G 2: 26,356,862 F325L probably benign Het
Cct8l1 T A 5: 25,517,099 S271T probably benign Het
Clca2 A G 3: 145,095,218 Y125H probably benign Het
Csn1s2b T G 5: 87,813,111 S25R probably damaging Het
Dnmt1 C T 9: 20,910,180 V1227I probably damaging Het
Fpr1 G A 17: 17,876,972 R252W possibly damaging Het
Gm15155 T A X: 156,303,256 D69E unknown Het
Hltf T C 3: 20,083,746 probably benign Het
Hnrnpr A G 4: 136,329,381 I130V possibly damaging Het
Klra9 G T 6: 130,189,781 S40* probably null Het
Ldoc1 C A X: 61,709,931 Y74* probably null Het
Lias G T 5: 65,405,330 V318F probably damaging Het
Mtss1 A G 15: 59,055,083 V48A possibly damaging Het
Myo9b C T 8: 71,359,642 P2019L probably damaging Het
Ogdhl T C 14: 32,337,631 probably benign Het
Olfr1447 T C 19: 12,901,739 I14V probably benign Het
Parp4 A G 14: 56,602,326 D497G probably damaging Het
Pcnx3 T C 19: 5,667,476 D1535G probably damaging Het
Pcx G T 19: 4,621,060 K1103N probably damaging Het
Pdgfd G A 9: 6,337,327 V220M probably damaging Het
Pola2 A G 19: 5,942,019 S542P probably damaging Het
Ppip5k1 G A 2: 121,312,074 T1278M possibly damaging Het
Pramef6 C T 4: 143,895,631 D385N probably benign Het
Ralgapb T C 2: 158,420,875 V11A possibly damaging Het
Rhox2f T A X: 37,571,981 V124E probably benign Het
Rnf213 T C 11: 119,449,876 probably null Het
Slc38a10 T C 11: 120,151,087 probably benign Het
Smco1 T C 16: 32,273,886 V125A probably benign Het
Tg A T 15: 66,671,351 Q38L probably damaging Het
Vmn2r97 T C 17: 18,947,811 F776L probably damaging Het
Zranb3 A C 1: 127,967,939 V724G possibly damaging Het
Other mutations in Trpv5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Trpv5 APN 6 41675375 missense possibly damaging 0.87
IGL01860:Trpv5 APN 6 41660295 missense probably damaging 1.00
IGL01950:Trpv5 APN 6 41675978 missense probably benign 0.09
Firesign UTSW 6 41658042 missense probably damaging 1.00
gingame UTSW 6 41670961 missense probably damaging 1.00
R0515:Trpv5 UTSW 6 41674211 intron probably benign
R1581:Trpv5 UTSW 6 41653140 missense probably damaging 1.00
R1633:Trpv5 UTSW 6 41675920 nonsense probably null
R1658:Trpv5 UTSW 6 41674282 missense probably damaging 1.00
R1677:Trpv5 UTSW 6 41657797 missense probably benign 0.44
R1955:Trpv5 UTSW 6 41657937 missense probably damaging 1.00
R2008:Trpv5 UTSW 6 41659728 critical splice acceptor site probably null
R2331:Trpv5 UTSW 6 41659968 missense probably damaging 1.00
R2519:Trpv5 UTSW 6 41674350 missense probably damaging 0.99
R2973:Trpv5 UTSW 6 41653231 missense possibly damaging 0.81
R2974:Trpv5 UTSW 6 41653231 missense possibly damaging 0.81
R3877:Trpv5 UTSW 6 41660343 missense probably benign 0.10
R3923:Trpv5 UTSW 6 41653249 missense probably benign 0.00
R4056:Trpv5 UTSW 6 41659705 missense probably damaging 1.00
R4396:Trpv5 UTSW 6 41657896 missense probably benign 0.00
R4757:Trpv5 UTSW 6 41653214 missense probably damaging 0.98
R5013:Trpv5 UTSW 6 41659713 missense probably damaging 1.00
R5039:Trpv5 UTSW 6 41675945 missense possibly damaging 0.73
R5330:Trpv5 UTSW 6 41660332 missense probably benign 0.06
R5331:Trpv5 UTSW 6 41660332 missense probably benign 0.06
R6270:Trpv5 UTSW 6 41674359 missense possibly damaging 0.94
R6405:Trpv5 UTSW 6 41674668 missense probably damaging 1.00
R6575:Trpv5 UTSW 6 41675969 missense probably benign
R6669:Trpv5 UTSW 6 41658042 missense probably damaging 1.00
R6681:Trpv5 UTSW 6 41653354 missense probably damaging 0.97
R6817:Trpv5 UTSW 6 41658007 missense possibly damaging 0.65
R7021:Trpv5 UTSW 6 41653270 missense probably benign 0.00
R7069:Trpv5 UTSW 6 41675960 missense possibly damaging 0.94
R7161:Trpv5 UTSW 6 41660536 nonsense probably null
R7241:Trpv5 UTSW 6 41675308 nonsense probably null
R7505:Trpv5 UTSW 6 41674656 missense probably damaging 0.99
Posted On2014-01-21