Incidental Mutation 'R6669:Trpv5'
ID 528052
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 044789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 41629107-41657703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41634976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 451 (A451V)
Ref Sequence ENSEMBL: ENSMUSP00000141421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]
AlphaFold P69744
Predicted Effect probably damaging
Transcript: ENSMUST00000031901
AA Change: A500V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: A500V

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 damaging
Transcript: ENSMUST00000193503
AA Change: A451V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: A451V

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
Meta Mutation Damage Score 0.1895 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging 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
R0515:Trpv5 UTSW 6 41,651,145 (GRCm39) intron probably benign
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
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'- AGTGAGTGTCGCCCATCATG -3'
(R):5'- TCAGGATTCTTAGGATAAGCCAG -3'

Sequencing Primer
(F):5'- CCATCATGGCAATGAACAAGTTG -3'
(R):5'- GATTCTTAGGATAAGCCAGTTCTAAG -3'
Posted On 2018-07-24