Incidental Mutation 'R6703:Trpm5'
ID 528286
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 044821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6703 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 142625266-142648379 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 142623055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000037941] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000141954] [ENSMUST00000177841] [ENSMUST00000147995] [ENSMUST00000150867] [ENSMUST00000207448] [ENSMUST00000133410] [ENSMUST00000137856] [ENSMUST00000208779]
AlphaFold Q9JJH7
Predicted Effect probably benign
Transcript: ENSMUST00000009390
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246

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: ENSMUST00000037941
SMART Domains Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 230 9.1e-47 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 noncoding transcript
Transcript: ENSMUST00000128762
Predicted Effect unknown
Transcript: ENSMUST00000148715
AA Change: R187L
Predicted Effect probably benign
Transcript: ENSMUST00000141954
Predicted Effect probably benign
Transcript: ENSMUST00000136602
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 noncoding transcript
Transcript: ENSMUST00000150589
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 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: ENSMUST00000146075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132303
Predicted Effect probably benign
Transcript: ENSMUST00000207448
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 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 probably benign
Transcript: ENSMUST00000208779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208278
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (73/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Akap13 T C 7: 75,252,646 (GRCm39) S259P probably damaging Het
Aoc1 A C 6: 48,882,648 (GRCm39) T197P probably damaging Het
Blnk A T 19: 40,950,950 (GRCm39) probably null Het
Ccser1 A T 6: 61,615,495 (GRCm39) K94* probably null Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Clec4n A G 6: 123,212,553 (GRCm39) Q89R probably null Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Dock7 T C 4: 98,834,909 (GRCm39) E1822G probably damaging Het
Dpyd A T 3: 118,690,849 (GRCm39) probably null Het
Dyrk4 A T 6: 126,867,045 (GRCm39) I329N probably damaging Het
E4f1 C A 17: 24,666,105 (GRCm39) R231L probably damaging Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Fkbp7 A T 2: 76,502,106 (GRCm39) M99K probably damaging Het
Flad1 T C 3: 89,315,897 (GRCm39) S222G probably benign Het
H1f7 C A 15: 98,155,153 (GRCm39) probably benign Het
Ighg2b T C 12: 113,268,653 (GRCm39) probably benign Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itln1 C T 1: 171,358,151 (GRCm39) C199Y probably damaging Het
Kctd3 G A 1: 188,728,726 (GRCm39) R137C probably damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp7 C T 3: 127,337,873 (GRCm39) M395I probably damaging Het
Lpcat3 C T 6: 124,640,185 (GRCm39) A5V probably benign Het
Lrrc43 C T 5: 123,637,532 (GRCm39) T233M possibly damaging Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Mgst2 T C 3: 51,572,033 (GRCm39) probably null Het
Mug2 T G 6: 122,055,653 (GRCm39) I1112R probably benign Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nectin3 A G 16: 46,284,205 (GRCm39) S160P probably damaging Het
Nudt16l2 T C 9: 105,021,758 (GRCm39) Y96C possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or2m13 T C 16: 19,226,122 (GRCm39) I215V probably benign Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdh10 G A 3: 45,335,734 (GRCm39) V683M possibly damaging Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pif1 T C 9: 65,500,545 (GRCm39) V490A probably damaging Het
Plekhn1 A T 4: 156,309,250 (GRCm39) Y219N probably benign Het
Ppl T G 16: 4,907,328 (GRCm39) E989A probably damaging Het
Prkdc T G 16: 15,488,392 (GRCm39) S505A probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Ptges A G 2: 30,793,133 (GRCm39) V33A possibly damaging Het
Qser1 G A 2: 104,607,670 (GRCm39) T1416I possibly damaging Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Rtn3 A T 19: 7,412,410 (GRCm39) V788D probably damaging Het
Rtn4r T C 16: 17,969,055 (GRCm39) L161P probably damaging Het
Rtn4rl1 G A 11: 75,156,354 (GRCm39) R262Q probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Senp6 A G 9: 80,029,203 (GRCm39) E522G probably damaging Het
Slc27a6 A G 18: 58,742,911 (GRCm39) N533S probably benign Het
Slc39a5 T A 10: 128,233,651 (GRCm39) D282V probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx14 A G 9: 88,304,967 (GRCm39) I109T probably damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
Sox5 G T 6: 143,779,191 (GRCm39) S648R probably damaging Het
Sptbn2 G A 19: 4,799,842 (GRCm39) S2161N probably benign Het
Sptbn2 C A 19: 4,799,843 (GRCm39) S2161R probably benign Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Tmub1 T C 5: 24,651,944 (GRCm39) S7G probably benign Het
Trarg1 A T 11: 76,584,988 (GRCm39) probably null Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp438 A G 18: 5,214,044 (GRCm39) S305P probably benign Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A 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
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
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'- AAACTGGTTGGCGCTCACAG -3'
(R):5'- GTACACGCCTCAATACCCTG -3'

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