Incidental Mutation 'R2331:Trpv5'
ID 245870
Institutional Source Beutler Lab
Gene Symbol Trpv5
Ensembl Gene ENSMUSG00000036899
Gene Name transient receptor potential cation channel, subfamily V, member 5
Synonyms CaT2, ECaC1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R2331 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 41629107-41657703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41636902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 399 (S399P)
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: S448P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: S448P

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: S399P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: S399P

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 C T 1: 38,243,971 (GRCm39) probably null Het
Cadps A G 14: 12,603,692 (GRCm38) I376T probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Gm10295 A C 7: 71,000,437 (GRCm39) S48A unknown Het
Gstcd A G 3: 132,704,641 (GRCm39) C538R probably damaging Het
Hcn3 A T 3: 89,055,397 (GRCm39) S617T probably benign Het
Hectd4 A G 5: 121,458,089 (GRCm39) I752V probably benign Het
Itgb7 G T 15: 102,131,983 (GRCm39) T200K probably damaging Het
Lcn11 C A 2: 25,670,188 (GRCm39) T177K possibly damaging Het
Lsm14a A G 7: 34,056,915 (GRCm39) V241A probably benign Het
Magi1 T C 6: 93,662,543 (GRCm39) K1075E probably damaging Het
Or4c111 T C 2: 88,844,265 (GRCm39) I48V probably benign Het
Or4d10c C A 19: 12,065,522 (GRCm39) L211F probably benign Het
P4hb T C 11: 120,459,106 (GRCm39) N129S probably benign Het
Piezo1 C T 8: 123,214,005 (GRCm39) probably null Het
Ppp3ca T C 3: 136,503,580 (GRCm39) M51T probably benign Het
Sema6d T C 2: 124,499,983 (GRCm39) V353A probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Sh3rf2 T C 18: 42,186,928 (GRCm39) F16L probably benign Het
Sparcl1 A G 5: 104,233,660 (GRCm39) L563P probably damaging Het
Stra6l T C 4: 45,858,224 (GRCm39) probably null Het
Sult2a6 A T 7: 13,959,795 (GRCm39) M246K possibly damaging Het
Uggt2 A T 14: 119,264,011 (GRCm39) F1006L possibly damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Wdr72 A G 9: 74,055,608 (GRCm39) Y279C 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
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'- AAAGATGAATGTCTCTGTGCAGC -3'
(R):5'- AGACTTGGCCTGAATGTGTG -3'

Sequencing Primer
(F):5'- TCTAAATATCCCGATGAAGCTCTCAG -3'
(R):5'- TGTGGGTGTCAGCCAGCTC -3'
Posted On 2014-10-30