Incidental Mutation 'R6242:Trpm5'
ID 505298
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 044434-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6242 (G1)
Quality Score 204.009
Status Validated
Chromosome 7
Chromosomal Location 142625266-142648379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 142626919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1101 (I1101L)
Ref Sequence ENSEMBL: ENSMUSP00000009390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000133410] [ENSMUST00000137856] [ENSMUST00000147995] [ENSMUST00000177841] [ENSMUST00000208779] [ENSMUST00000150867]
AlphaFold Q9JJH7
Predicted Effect probably benign
Transcript: ENSMUST00000009390
AA Change: I1101L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: I1101L

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 benign
Transcript: ENSMUST00000060433
SMART Domains Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 91 207 3.9e-43 PFAM
low complexity region 232 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105920
SMART Domains Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126776
Predicted Effect probably benign
Transcript: ENSMUST00000133410
SMART Domains Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 85 106 N/A INTRINSIC
low complexity region 124 138 N/A INTRINSIC
Pfam:TSSC4 159 266 5.2e-31 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000136602
AA Change: I41L
Predicted Effect probably benign
Transcript: ENSMUST00000137856
SMART Domains Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 209 1.6e-34 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000148715
AA Change: I109L
Predicted Effect probably benign
Transcript: ENSMUST00000147995
SMART Domains Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 196 4.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150589
Predicted Effect probably benign
Transcript: ENSMUST00000177841
SMART Domains Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 210 1.7e-34 PFAM
low complexity region 232 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208779
Predicted Effect probably benign
Transcript: ENSMUST00000150867
SMART Domains Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146075
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 99% (75/76)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G T 15: 98,501,896 (GRCm39) C239* probably null Het
Akr1c6 A G 13: 4,486,361 (GRCm39) Q56R probably benign Het
Apaf1 T A 10: 90,898,025 (GRCm39) D244V probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef11 C A 3: 87,635,385 (GRCm39) A898E probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atf6 T A 1: 170,621,545 (GRCm39) Q492L possibly damaging Het
Atrnl1 G T 19: 57,630,910 (GRCm39) V226F probably benign Het
Cfap68 C T 9: 50,675,215 (GRCm39) E148K probably benign Het
Cntnap1 A T 11: 101,073,364 (GRCm39) Y615F probably damaging Het
Crybg3 T C 16: 59,376,053 (GRCm39) T1734A probably benign Het
Ctdp1 A C 18: 80,502,427 (GRCm39) V161G probably damaging Het
Cyp4a30b T A 4: 115,311,587 (GRCm39) V85E possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha6 A T 16: 59,503,025 (GRCm39) W961R probably damaging Het
Fam114a1 A G 5: 65,188,695 (GRCm39) E475G probably damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fancm A T 12: 65,163,216 (GRCm39) Q1460L probably benign Het
Fancm C A 12: 65,163,223 (GRCm39) N1462K probably benign Het
Fgf14 T C 14: 124,913,940 (GRCm39) K64E probably benign Het
Fndc5 T C 4: 129,033,688 (GRCm39) V152A probably benign Het
Garem1 C G 18: 21,262,229 (GRCm39) V862L possibly damaging Het
Grin3b G A 10: 79,812,013 (GRCm39) G814R probably damaging Het
Hacd4 A G 4: 88,332,524 (GRCm39) S226P probably benign Het
Htt A G 5: 35,003,356 (GRCm39) Y1277C probably damaging Het
Igkv1-131 T A 6: 67,743,062 (GRCm39) D107V probably damaging Het
Iqcc T C 4: 129,510,639 (GRCm39) D292G probably damaging Het
Krtap13 C T 16: 88,548,384 (GRCm39) V35I probably damaging Het
Liat1 T C 11: 75,890,981 (GRCm39) S32P probably damaging Het
Lrrc59 G T 11: 94,525,809 (GRCm39) L132F possibly damaging Het
Mcub T C 3: 129,709,444 (GRCm39) S290G probably benign Het
Mettl4 A G 17: 95,042,802 (GRCm39) W345R probably damaging Het
Msgn1 G A 12: 11,258,526 (GRCm39) R142W probably damaging Het
Myo5c A G 9: 75,180,893 (GRCm39) I761V probably benign Het
Neb T A 2: 52,066,824 (GRCm39) K5879M probably damaging Het
Nkd2 C T 13: 73,970,905 (GRCm39) V226M probably damaging Het
Nt5el T A 13: 105,246,048 (GRCm39) V203E probably benign Het
Or51a24 T G 7: 103,733,771 (GRCm39) H172P possibly damaging Het
Or5b106 T A 19: 13,123,450 (GRCm39) H191L probably benign Het
Parp4 T A 14: 56,832,856 (GRCm39) L393* probably null Het
Pcdhgb6 G A 18: 37,876,608 (GRCm39) V439I probably benign Het
Pde1a T A 2: 79,959,136 (GRCm39) T15S probably benign Het
Pgr T A 9: 8,900,980 (GRCm39) I171N probably benign Het
Podxl T A 6: 31,503,180 (GRCm39) D296V probably benign Het
Polr3e A T 7: 120,539,690 (GRCm39) E479V possibly damaging Het
Prdm10 A T 9: 31,252,548 (GRCm39) H427L possibly damaging Het
Prl5a1 A T 13: 28,326,538 (GRCm39) K5* probably null Het
Prph A G 15: 98,955,004 (GRCm39) S325G probably damaging Het
Rabl2 C A 15: 89,468,555 (GRCm39) W49L probably benign Het
Rbbp8nl T A 2: 179,922,767 (GRCm39) I209F probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn7a T C 2: 66,531,110 (GRCm39) D589G probably benign Het
Sdr42e1 A T 8: 118,389,936 (GRCm39) L235Q possibly damaging Het
Serpina3a T C 12: 104,082,260 (GRCm39) M11T probably benign Het
Slc6a4 A T 11: 76,909,184 (GRCm39) K399* probably null Het
Slco4c1 T A 1: 96,767,008 (GRCm39) T337S probably damaging Het
Spc25 A T 2: 69,027,555 (GRCm39) F112L probably damaging Het
Swt1 A G 1: 151,283,365 (GRCm39) S331P probably benign Het
Tab1 A T 15: 80,039,971 (GRCm39) K264* probably null Het
Tagln3 T A 16: 45,544,701 (GRCm39) probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbck A G 3: 132,400,189 (GRCm39) D80G probably benign Het
Tcim A T 8: 24,928,911 (GRCm39) M1K probably null Het
Thap2 A G 10: 115,208,831 (GRCm39) S37P unknown Het
Tjp2 A T 19: 24,076,967 (GRCm39) probably null Het
Tln1 G A 4: 43,533,145 (GRCm39) S2390L probably damaging Het
Ttc3 T G 16: 94,243,554 (GRCm39) M831R probably benign Het
Tulp3 A G 6: 128,300,050 (GRCm39) C459R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Unc13b A T 4: 43,165,800 (GRCm39) T195S possibly damaging Het
Urgcp A G 11: 5,666,691 (GRCm39) L549P probably benign Het
Usp10 G T 8: 120,668,577 (GRCm39) A293S probably benign Het
Vmn2r23 A G 6: 123,681,359 (GRCm39) E89G possibly damaging Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Wif1 T C 10: 120,870,366 (GRCm39) I40T possibly damaging Het
Zmynd8 G A 2: 165,740,867 (GRCm39) R6C possibly damaging 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
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
R7801:Trpm5 UTSW 7 142,638,978 (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'- TCTCGAAAGTGAGTTGGGGC -3'
(R):5'- TCTTTGAGGGTACAGCAGTGC -3'

Sequencing Primer
(F):5'- TGAGTTGGGGCAGGGGC -3'
(R):5'- AGGGTACAGCAGTGCTCCATATC -3'
Posted On 2018-02-28