Incidental Mutation 'R0515:Trpv5'
ID 48185
Institutional Source Beutler Lab
Gene Symbol Trpv5
Ensembl Gene ENSMUSG00000036899
Gene Name transient receptor potential cation channel, subfamily V, member 5
Synonyms CaT2, ECaC1
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41629107-41657703 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 41651145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]
AlphaFold P69744
Predicted Effect probably benign
Transcript: ENSMUST00000031901
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899

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 probably benign
Transcript: ENSMUST00000193503
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Trpv5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Trpv5 APN 6 41,652,309 (GRCm39) missense possibly damaging 0.87
IGL01704:Trpv5 APN 6 41,630,192 (GRCm39) missense possibly damaging 0.88
IGL01860:Trpv5 APN 6 41,637,229 (GRCm39) missense probably damaging 1.00
IGL01950:Trpv5 APN 6 41,652,912 (GRCm39) missense probably benign 0.09
Firesign UTSW 6 41,634,976 (GRCm39) missense probably damaging 1.00
gingame UTSW 6 41,647,895 (GRCm39) missense probably damaging 1.00
R1581:Trpv5 UTSW 6 41,630,074 (GRCm39) missense probably damaging 1.00
R1633:Trpv5 UTSW 6 41,652,854 (GRCm39) nonsense probably null
R1658:Trpv5 UTSW 6 41,651,216 (GRCm39) missense probably damaging 1.00
R1677:Trpv5 UTSW 6 41,634,731 (GRCm39) missense probably benign 0.44
R1955:Trpv5 UTSW 6 41,634,871 (GRCm39) missense probably damaging 1.00
R2008:Trpv5 UTSW 6 41,636,662 (GRCm39) critical splice acceptor site probably null
R2331:Trpv5 UTSW 6 41,636,902 (GRCm39) missense probably damaging 1.00
R2519:Trpv5 UTSW 6 41,651,284 (GRCm39) missense probably damaging 0.99
R2973:Trpv5 UTSW 6 41,630,165 (GRCm39) missense possibly damaging 0.81
R2974:Trpv5 UTSW 6 41,630,165 (GRCm39) missense possibly damaging 0.81
R3877:Trpv5 UTSW 6 41,637,277 (GRCm39) missense probably benign 0.10
R3923:Trpv5 UTSW 6 41,630,183 (GRCm39) missense probably benign 0.00
R4056:Trpv5 UTSW 6 41,636,639 (GRCm39) missense probably damaging 1.00
R4396:Trpv5 UTSW 6 41,634,830 (GRCm39) missense probably benign 0.00
R4757:Trpv5 UTSW 6 41,630,148 (GRCm39) missense probably damaging 0.98
R5013:Trpv5 UTSW 6 41,636,647 (GRCm39) missense probably damaging 1.00
R5039:Trpv5 UTSW 6 41,652,879 (GRCm39) missense possibly damaging 0.73
R5330:Trpv5 UTSW 6 41,637,266 (GRCm39) missense probably benign 0.06
R5331:Trpv5 UTSW 6 41,637,266 (GRCm39) missense probably benign 0.06
R6270:Trpv5 UTSW 6 41,651,293 (GRCm39) missense possibly damaging 0.94
R6405:Trpv5 UTSW 6 41,651,602 (GRCm39) missense probably damaging 1.00
R6575:Trpv5 UTSW 6 41,652,903 (GRCm39) missense probably benign
R6669:Trpv5 UTSW 6 41,634,976 (GRCm39) missense probably damaging 1.00
R6681:Trpv5 UTSW 6 41,630,288 (GRCm39) missense probably damaging 0.97
R6817:Trpv5 UTSW 6 41,634,941 (GRCm39) missense possibly damaging 0.65
R7021:Trpv5 UTSW 6 41,630,204 (GRCm39) missense probably benign 0.00
R7069:Trpv5 UTSW 6 41,652,894 (GRCm39) missense possibly damaging 0.94
R7161:Trpv5 UTSW 6 41,637,470 (GRCm39) nonsense probably null
R7241:Trpv5 UTSW 6 41,652,242 (GRCm39) nonsense probably null
R7505:Trpv5 UTSW 6 41,651,590 (GRCm39) missense probably damaging 0.99
R7806:Trpv5 UTSW 6 41,651,867 (GRCm39) missense probably damaging 0.99
R8060:Trpv5 UTSW 6 41,651,465 (GRCm39) nonsense probably null
R8407:Trpv5 UTSW 6 41,652,272 (GRCm39) missense probably benign 0.02
R8428:Trpv5 UTSW 6 41,630,182 (GRCm39) missense possibly damaging 0.48
R8435:Trpv5 UTSW 6 41,647,827 (GRCm39) missense probably damaging 1.00
R8762:Trpv5 UTSW 6 41,652,313 (GRCm39) missense probably benign 0.36
R8885:Trpv5 UTSW 6 41,630,192 (GRCm39) missense possibly damaging 0.88
R8896:Trpv5 UTSW 6 41,647,847 (GRCm39) missense probably damaging 1.00
R9566:Trpv5 UTSW 6 41,637,456 (GRCm39) missense probably null 1.00
R9594:Trpv5 UTSW 6 41,647,773 (GRCm39) missense probably benign
R9701:Trpv5 UTSW 6 41,651,594 (GRCm39) missense possibly damaging 0.82
Z1177:Trpv5 UTSW 6 41,651,255 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAAGCAGGACGAAAGTAGTCTC -3'
(R):5'- TCTCCGTTCTCCCCAGGAAATACAG -3'

Sequencing Primer
(F):5'- GTAGTCTCAGAAGATAAACATTGGC -3'
(R):5'- GTCAGATGTACAACCTGCTACTG -3'
Posted On 2013-06-12