Incidental Mutation 'R7241:Trpv5'
ID 563195
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 045348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R7241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 41629107-41657703 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 41652242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 148 (R148*)
Ref Sequence ENSEMBL: ENSMUSP00000031901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]
AlphaFold P69744
Predicted Effect probably null
Transcript: ENSMUST00000031901
AA Change: R148*
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: R148*

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 null
Transcript: ENSMUST00000193503
AA Change: R148*
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: R148*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,184 (GRCm39) T612A probably damaging Het
Acacb G A 5: 114,383,161 (GRCm39) A2115T possibly damaging Het
Adam32 T C 8: 25,388,510 (GRCm39) K398R probably benign Het
Adam9 T A 8: 25,441,002 (GRCm39) I824F possibly damaging Het
Ahnak A G 19: 8,986,395 (GRCm39) I2560V possibly damaging Het
Ank3 G A 10: 69,542,644 (GRCm39) M1I probably null Het
Anks1b T G 10: 90,348,699 (GRCm39) I789S probably damaging Het
Ap2b1 T A 11: 83,241,931 (GRCm39) N641K probably benign Het
Arhgap33 A G 7: 30,228,146 (GRCm39) L412P probably damaging Het
Atp13a3 T A 16: 30,171,095 (GRCm39) M317L possibly damaging Het
B4galt5 A G 2: 167,148,617 (GRCm39) L167P probably damaging Het
Bace2 T C 16: 97,237,998 (GRCm39) I483T possibly damaging Het
C2cd3 A C 7: 100,056,257 (GRCm39) K177T Het
Ccr4 T C 9: 114,322,024 (GRCm39) T14A probably benign Het
Cep250 A T 2: 155,833,472 (GRCm39) H1799L probably benign Het
Cgnl1 T C 9: 71,632,052 (GRCm39) Q433R probably benign Het
Copb1 C T 7: 113,836,591 (GRCm39) V384M probably damaging Het
Cyp2c50 T A 19: 40,079,012 (GRCm39) N118K probably benign Het
Cyp4a32 A G 4: 115,459,499 (GRCm39) I78V probably benign Het
Cyth4 A G 15: 78,491,245 (GRCm39) K108R probably benign Het
Dnah1 T C 14: 30,986,896 (GRCm39) H3632R probably benign Het
Dnah3 T C 7: 119,542,856 (GRCm39) I540V probably benign Het
Dock4 A G 12: 40,844,859 (GRCm39) Y1174C probably damaging Het
Drd5 A G 5: 38,477,879 (GRCm39) T291A probably damaging Het
Eeig1 A G 2: 32,448,076 (GRCm39) R62G probably benign Het
Fbn1 T C 2: 125,148,415 (GRCm39) N2611S possibly damaging Het
Fcsk A G 8: 111,622,529 (GRCm39) I133T probably benign Het
Fhod3 A G 18: 25,193,409 (GRCm39) E640G probably damaging Het
Flvcr2 T A 12: 85,852,013 (GRCm39) D522E probably benign Het
Ganc T A 2: 120,272,010 (GRCm39) I556K probably damaging Het
Gjc2 T A 11: 59,067,960 (GRCm39) E174V unknown Het
Gzmd G A 14: 56,368,799 (GRCm39) R32C probably damaging Het
Hltf T A 3: 20,119,556 (GRCm39) H200Q probably benign Het
Ift88 A G 14: 57,717,454 (GRCm39) I559M probably damaging Het
Ighv1-62-1 C A 12: 115,350,322 (GRCm39) C115F probably damaging Het
Impdh2 A G 9: 108,440,636 (GRCm39) N279S possibly damaging Het
Itpr1 T C 6: 108,494,581 (GRCm39) probably null Het
Kansl1l T C 1: 66,840,787 (GRCm39) N171S possibly damaging Het
Kif14 T A 1: 136,396,491 (GRCm39) C266S probably benign Het
Kif19b A G 5: 140,447,943 (GRCm39) T137A probably damaging Het
Lrriq1 A C 10: 103,051,834 (GRCm39) V306G probably damaging Het
Mast4 G A 13: 103,470,508 (GRCm39) R65W possibly damaging Het
Mex3d T C 10: 80,223,091 (GRCm39) D55G Het
Mrps27 A T 13: 99,547,788 (GRCm39) K233* probably null Het
Myo1f A G 17: 33,798,902 (GRCm39) N189S probably damaging Het
Nbn A T 4: 15,991,190 (GRCm39) K729N probably benign Het
Or1e35 T C 11: 73,798,058 (GRCm39) S87G probably benign Het
Or8k35 C A 2: 86,424,498 (GRCm39) V225F possibly damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Plaat5 A G 19: 7,591,946 (GRCm39) T121A probably benign Het
Polr1e A C 4: 45,029,340 (GRCm39) H315P probably damaging Het
Pou6f2 A G 13: 18,299,874 (GRCm39) V595A Het
Prdm15 T C 16: 97,596,941 (GRCm39) D960G possibly damaging Het
Prkcz A T 4: 155,353,516 (GRCm39) M460K probably benign Het
Prkd2 G T 7: 16,591,730 (GRCm39) R587L probably benign Het
Prkn C A 17: 12,073,748 (GRCm39) N355K possibly damaging Het
Rabep1 C A 11: 70,830,815 (GRCm39) T829N probably damaging Het
Rptn A G 3: 93,303,261 (GRCm39) E198G probably benign Het
Ryr2 A T 13: 11,680,799 (GRCm39) I3182N possibly damaging Het
Sectm1a T A 11: 120,960,708 (GRCm39) I36F possibly damaging Het
Sez6l T C 5: 112,621,346 (GRCm39) S243G probably benign Het
Spata31h1 T C 10: 82,122,876 (GRCm39) E3378G probably benign Het
Taf2 T A 15: 54,925,537 (GRCm39) H235L probably benign Het
Tbc1d7 T C 13: 43,306,493 (GRCm39) Q161R probably benign Het
Tfcp2 T C 15: 100,416,468 (GRCm39) T271A possibly damaging Het
Thrsp G T 7: 97,066,295 (GRCm39) T139K probably damaging Het
Timm10 T A 2: 84,660,333 (GRCm39) *91R probably null Het
Tlr11 T A 14: 50,599,598 (GRCm39) I528N possibly damaging Het
Tnnt2 T A 1: 135,779,444 (GRCm39) L278Q probably damaging Het
Toe1 A T 4: 116,664,715 (GRCm39) M1K probably null Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Ttn A G 2: 76,783,550 (GRCm39) V860A unknown Het
Txnip T C 3: 96,466,991 (GRCm39) Y222H probably damaging Het
Ubr4 G A 4: 139,170,725 (GRCm39) S1600N probably damaging Het
Uhrf1 T C 17: 56,622,193 (GRCm39) Y364H probably damaging Het
Unc5a A T 13: 55,138,833 (GRCm39) T71S probably damaging Het
Vmn1r123 A T 7: 20,896,537 (GRCm39) Y143F possibly damaging Het
Vmn1r180 T A 7: 23,651,891 (GRCm39) I18N probably damaging Het
Washc2 A G 6: 116,185,168 (GRCm39) M1V probably null Het
Zfp174 C A 16: 3,666,111 (GRCm39) H125Q probably benign Het
Zfpl1 T C 19: 6,131,943 (GRCm39) H227R possibly 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
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
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'- CATCTAGGGGTTTGGGATCACC -3'
(R):5'- CAGGAAGCTTCTGTAAGGGC -3'

Sequencing Primer
(F):5'- GGTTTGGGATCACCTACCC -3'
(R):5'- AAGCTTCTGTAAGGGCTGCTG -3'
Posted On 2019-06-26