Incidental Mutation 'R7801:Trpm5'
ID 600533
Institutional Source Beutler Lab
Gene Symbol Trpm5
Ensembl Gene ENSMUSG00000009246
Gene Name transient receptor potential cation channel, subfamily M, member 5
Synonyms Ltrpc5, 9430099A16Rik, Mtr1
MMRRC Submission 045856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7801 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 142625266-142648379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 142638978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 264 (D264E)
Ref Sequence ENSEMBL: ENSMUSP00000009390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000150867]
AlphaFold Q9JJH7
Predicted Effect probably damaging
Transcript: ENSMUST00000009390
AA Change: D264E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: D264E

DomainStartEndE-ValueType
Blast:ANK 382 411 2e-6 BLAST
transmembrane domain 644 666 N/A INTRINSIC
Pfam:Ion_trans 736 989 1.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150867
AA Change: D264E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: D264E

DomainStartEndE-ValueType
Blast:ANK 382 411 2e-6 BLAST
transmembrane domain 644 666 N/A INTRINSIC
transmembrane domain 731 753 N/A INTRINSIC
transmembrane domain 811 833 N/A INTRINSIC
transmembrane domain 872 894 N/A INTRINSIC
transmembrane domain 952 974 N/A INTRINSIC
Meta Mutation Damage Score 0.4597 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous mutant mice demonstrate abnormal taste perception, responding to sour and salty stimuli but not to sweet, or bitter stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,558,207 (GRCm39) Y165C probably damaging Het
Agbl3 A T 6: 34,816,300 (GRCm39) T742S probably benign Het
Arhgef10l T C 4: 140,271,578 (GRCm39) T651A probably benign Het
Arsb T A 13: 93,998,835 (GRCm39) I381N probably damaging Het
Blzf1 A G 1: 164,123,478 (GRCm39) V283A probably benign Het
Cadps C T 14: 12,489,476 (GRCm38) probably null Het
Casz1 A T 4: 149,022,706 (GRCm39) T591S probably damaging Het
Ccne2 T C 4: 11,194,079 (GRCm39) probably null Het
Chst9 T C 18: 15,585,334 (GRCm39) T410A probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Fam234a T C 17: 26,437,172 (GRCm39) D169G probably benign Het
Fat1 C T 8: 45,495,260 (GRCm39) P4116L probably damaging Het
Fbxo21 G T 5: 118,124,189 (GRCm39) A166S probably damaging Het
Gbf1 A G 19: 46,261,082 (GRCm39) I1216V probably benign Het
Gper1 G A 5: 139,412,443 (GRCm39) A263T probably benign Het
Hdlbp G T 1: 93,358,029 (GRCm39) probably null Het
Ighg3 A T 12: 113,323,436 (GRCm39) L280Q Het
Impa1 T C 3: 10,386,727 (GRCm39) T171A probably benign Het
Ints7 T A 1: 191,347,859 (GRCm39) Y744N possibly damaging Het
Irgc G T 7: 24,131,959 (GRCm39) A286D probably damaging Het
Kif18a T C 2: 109,118,190 (GRCm39) S2P probably damaging Het
Macf1 A T 4: 123,302,064 (GRCm39) W813R probably damaging Het
Mapkbp1 T G 2: 119,842,554 (GRCm39) H157Q probably damaging Het
Mfsd4b2 T A 10: 39,799,777 (GRCm39) M42L probably benign Het
Mon2 A G 10: 122,895,091 (GRCm39) probably null Het
Myrfl T A 10: 116,684,240 (GRCm39) H161L probably benign Het
Or2aj6 T C 16: 19,443,373 (GRCm39) H159R probably damaging Het
Or7g19 A C 9: 18,856,555 (GRCm39) S204R probably damaging Het
Phlpp2 T G 8: 110,652,474 (GRCm39) V606G possibly damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Ptpn9 A G 9: 56,968,297 (GRCm39) T546A probably benign Het
Qrfprl T A 6: 65,418,201 (GRCm39) V123D probably damaging Het
Rabep2 A G 7: 126,037,584 (GRCm39) M146V possibly damaging Het
Rptn G A 3: 93,305,531 (GRCm39) E955K possibly damaging Het
Samd3 G T 10: 26,139,770 (GRCm39) V301F possibly damaging Het
Sh2b1 C A 7: 126,070,464 (GRCm39) C380F probably benign Het
Shank1 A G 7: 44,001,022 (GRCm39) M914V unknown Het
Sox2 G A 3: 34,704,791 (GRCm39) R76H probably damaging Het
Stat5a T C 11: 100,771,143 (GRCm39) F574S probably damaging Het
Tbx5 A G 5: 119,975,064 (GRCm39) E29G probably benign Het
Zfp442 T C 2: 150,251,639 (GRCm39) S88G probably benign Het
Zfp62 T A 11: 49,108,155 (GRCm39) F749I possibly damaging Het
Zfp677 T A 17: 21,618,277 (GRCm39) S445T probably damaging Het
Zfp979 A C 4: 147,698,435 (GRCm39) N91K probably damaging Het
Zfyve9 A G 4: 108,542,192 (GRCm39) V209A possibly damaging Het
Zic4 G T 9: 91,266,297 (GRCm39) A314S probably benign Het
Other mutations in Trpm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Trpm5 APN 7 142,636,728 (GRCm39) missense probably benign 0.03
IGL00717:Trpm5 APN 7 142,627,727 (GRCm39) missense probably damaging 1.00
IGL01138:Trpm5 APN 7 142,628,306 (GRCm39) missense probably benign
IGL01590:Trpm5 APN 7 142,636,471 (GRCm39) missense probably damaging 0.99
IGL01603:Trpm5 APN 7 142,629,338 (GRCm39) missense probably benign 0.04
IGL01685:Trpm5 APN 7 142,636,091 (GRCm39) missense probably benign 0.05
IGL01878:Trpm5 APN 7 142,628,234 (GRCm39) missense probably damaging 1.00
IGL02533:Trpm5 APN 7 142,643,282 (GRCm39) missense probably benign 0.01
IGL02572:Trpm5 APN 7 142,641,613 (GRCm39) splice site probably benign
IGL02750:Trpm5 APN 7 142,628,221 (GRCm39) missense possibly damaging 0.89
IGL02862:Trpm5 APN 7 142,636,262 (GRCm39) missense probably damaging 1.00
R0032:Trpm5 UTSW 7 142,638,978 (GRCm39) missense probably damaging 1.00
R0238:Trpm5 UTSW 7 142,636,695 (GRCm39) missense probably damaging 1.00
R0238:Trpm5 UTSW 7 142,636,695 (GRCm39) missense probably damaging 1.00
R0239:Trpm5 UTSW 7 142,636,695 (GRCm39) missense probably damaging 1.00
R0239:Trpm5 UTSW 7 142,636,695 (GRCm39) missense probably damaging 1.00
R0334:Trpm5 UTSW 7 142,640,613 (GRCm39) missense probably benign 0.06
R0799:Trpm5 UTSW 7 142,632,088 (GRCm39) missense probably damaging 0.99
R1187:Trpm5 UTSW 7 142,628,206 (GRCm39) missense probably damaging 0.96
R1373:Trpm5 UTSW 7 142,640,579 (GRCm39) splice site probably benign
R1521:Trpm5 UTSW 7 142,636,626 (GRCm39) missense probably benign 0.00
R1603:Trpm5 UTSW 7 142,638,946 (GRCm39) missense probably benign 0.00
R1606:Trpm5 UTSW 7 142,638,908 (GRCm39) nonsense probably null
R2009:Trpm5 UTSW 7 142,641,475 (GRCm39) missense possibly damaging 0.58
R2437:Trpm5 UTSW 7 142,636,298 (GRCm39) missense probably benign 0.03
R2508:Trpm5 UTSW 7 142,642,656 (GRCm39) missense possibly damaging 0.80
R2516:Trpm5 UTSW 7 142,628,254 (GRCm39) missense probably damaging 1.00
R2985:Trpm5 UTSW 7 142,636,675 (GRCm39) missense probably damaging 0.99
R3036:Trpm5 UTSW 7 142,639,200 (GRCm39) missense probably benign 0.00
R3037:Trpm5 UTSW 7 142,639,200 (GRCm39) missense probably benign 0.00
R3688:Trpm5 UTSW 7 142,632,193 (GRCm39) missense probably damaging 0.98
R4156:Trpm5 UTSW 7 142,642,792 (GRCm39) missense probably benign 0.04
R4734:Trpm5 UTSW 7 142,636,522 (GRCm39) missense probably benign 0.04
R4811:Trpm5 UTSW 7 142,633,956 (GRCm39) missense probably damaging 1.00
R4814:Trpm5 UTSW 7 142,636,373 (GRCm39) missense possibly damaging 0.50
R4847:Trpm5 UTSW 7 142,641,500 (GRCm39) missense possibly damaging 0.89
R5055:Trpm5 UTSW 7 142,626,521 (GRCm39) missense probably benign 0.00
R5256:Trpm5 UTSW 7 142,636,040 (GRCm39) missense probably damaging 1.00
R5413:Trpm5 UTSW 7 142,634,705 (GRCm39) missense probably damaging 1.00
R5668:Trpm5 UTSW 7 142,626,966 (GRCm39) missense probably benign 0.39
R6133:Trpm5 UTSW 7 142,642,688 (GRCm39) missense probably damaging 0.98
R6242:Trpm5 UTSW 7 142,626,919 (GRCm39) missense probably benign
R6564:Trpm5 UTSW 7 142,626,507 (GRCm39) missense probably damaging 1.00
R6702:Trpm5 UTSW 7 142,623,055 (GRCm39) unclassified probably benign
R6703:Trpm5 UTSW 7 142,623,055 (GRCm39) unclassified probably benign
R6829:Trpm5 UTSW 7 142,623,166 (GRCm39) unclassified probably benign
R6940:Trpm5 UTSW 7 142,638,547 (GRCm39) nonsense probably null
R7337:Trpm5 UTSW 7 142,642,756 (GRCm39) missense probably benign 0.01
R7513:Trpm5 UTSW 7 142,635,572 (GRCm39) missense possibly damaging 0.84
R7560:Trpm5 UTSW 7 142,634,723 (GRCm39) missense probably damaging 1.00
R7961:Trpm5 UTSW 7 142,634,106 (GRCm39) missense probably benign 0.00
R8009:Trpm5 UTSW 7 142,634,106 (GRCm39) missense probably benign 0.00
R8189:Trpm5 UTSW 7 142,635,575 (GRCm39) missense probably benign 0.32
R8441:Trpm5 UTSW 7 142,626,171 (GRCm39) missense possibly damaging 0.75
R8507:Trpm5 UTSW 7 142,632,050 (GRCm39) missense probably damaging 1.00
R8825:Trpm5 UTSW 7 142,636,753 (GRCm39) missense possibly damaging 0.94
R9443:Trpm5 UTSW 7 142,638,860 (GRCm39) missense probably benign
R9577:Trpm5 UTSW 7 142,633,131 (GRCm39) critical splice donor site probably null
R9608:Trpm5 UTSW 7 142,633,148 (GRCm39) missense possibly damaging 0.83
R9647:Trpm5 UTSW 7 142,634,498 (GRCm39) missense possibly damaging 0.95
X0022:Trpm5 UTSW 7 142,636,779 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCTGCTACACAAGGACCTG -3'
(R):5'- TGGAGCCCTGAAGGATATGG -3'

Sequencing Primer
(F):5'- GCTACACAAGGACCTGGATAATTCTG -3'
(R):5'- GTAGTTTCTCAGGGCATCTACAG -3'
Posted On 2019-11-26