Incidental Mutation 'R4811:Trpm5'
ID 369432
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 042430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4811 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 142625266-142648379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142633956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 750 (Y750C)
Ref Sequence ENSEMBL: ENSMUSP00000114302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000150867]
AlphaFold Q9JJH7
Predicted Effect probably damaging
Transcript: ENSMUST00000009390
AA Change: Y750C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: Y750C

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 noncoding transcript
Transcript: ENSMUST00000133027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150589
Predicted Effect probably damaging
Transcript: ENSMUST00000150867
AA Change: Y750C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: Y750C

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,425,952 (GRCm39) probably benign Het
Adam3 C T 8: 25,201,740 (GRCm39) G208R probably benign Het
Arsg G T 11: 109,424,898 (GRCm39) V290L probably benign Het
Cad A G 5: 31,232,034 (GRCm39) T104A probably benign Het
Ccdc180 A G 4: 45,928,020 (GRCm39) N1185S probably damaging Het
Cdh18 A G 15: 23,226,877 (GRCm39) T113A probably benign Het
Crocc2 G A 1: 93,133,618 (GRCm39) A967T probably damaging Het
Cyp4f16 A G 17: 32,764,080 (GRCm39) T291A probably benign Het
Dcc T A 18: 71,432,554 (GRCm39) H1300L probably benign Het
Ddx23 T A 15: 98,545,352 (GRCm39) probably null Het
Dnhd1 T G 7: 105,363,488 (GRCm39) S4017A probably damaging Het
Erbb4 A T 1: 68,293,703 (GRCm39) F729L probably damaging Het
Ercc6 G T 14: 32,296,886 (GRCm39) R1292L probably benign Het
Fam186b C T 15: 99,178,118 (GRCm39) V403M probably benign Het
Fam227a T C 15: 79,499,628 (GRCm39) N576D possibly damaging Het
Fbln1 A G 15: 85,111,167 (GRCm39) probably null Het
Fbxw17 T C 13: 50,579,669 (GRCm39) V162A probably benign Het
Gas2l1 A C 11: 5,014,436 (GRCm39) I8S probably damaging Het
Golgb1 T C 16: 36,711,781 (GRCm39) L195P probably damaging Het
Gps2 A T 11: 69,806,754 (GRCm39) H233L probably damaging Het
Guf1 T G 5: 69,721,852 (GRCm39) probably null Het
H2-T9 A G 17: 36,438,668 (GRCm39) L241S probably damaging Het
Il1rap T A 16: 26,519,988 (GRCm39) probably null Het
Ints14 A G 9: 64,871,800 (GRCm39) Y46C probably damaging Het
Kalrn T G 16: 34,177,339 (GRCm39) Q293H probably damaging Het
Kank2 A G 9: 21,687,043 (GRCm39) L593P probably damaging Het
Krt19 T C 11: 100,032,174 (GRCm39) T297A possibly damaging Het
Lcp1 T C 14: 75,437,848 (GRCm39) V86A probably damaging Het
Lins1 T A 7: 66,357,898 (GRCm39) I11K probably benign Het
Lrba T C 3: 86,683,448 (GRCm39) F2757L probably damaging Het
Lyst T C 13: 13,951,685 (GRCm39) I3762T probably benign Het
Lyzl6 A G 11: 103,525,851 (GRCm39) S90P possibly damaging Het
Mfsd2a T A 4: 122,853,175 (GRCm39) Q38L probably benign Het
Mtss1 A G 15: 58,815,922 (GRCm39) F546S probably damaging Het
Myo5a G A 9: 75,048,825 (GRCm39) probably null Het
Naip6 C A 13: 100,422,299 (GRCm39) G1245W probably damaging Het
Ndfip1 C T 18: 38,584,645 (GRCm39) T107I probably benign Het
Nek8 C T 11: 78,058,544 (GRCm39) probably null Het
Nphs1 T C 7: 30,159,854 (GRCm39) V55A probably damaging Het
Nrp2 C A 1: 62,758,240 (GRCm39) H75Q probably damaging Het
Oas1e C T 5: 120,933,448 (GRCm39) S39N probably damaging Het
Or13g1 T C 7: 85,956,166 (GRCm39) T52A probably benign Het
Or2y1e T G 11: 49,218,575 (GRCm39) S112R possibly damaging Het
Or5d37 A G 2: 87,923,876 (GRCm39) F135L probably benign Het
Or7h8 A T 9: 20,124,049 (GRCm39) I135F probably damaging Het
Pan3 T A 5: 147,466,868 (GRCm39) H632Q probably damaging Het
Paqr3 A C 5: 97,243,842 (GRCm39) S291A probably benign Het
Pcdh17 A C 14: 84,685,375 (GRCm39) D614A probably damaging Het
Pcyox1l T C 18: 61,830,606 (GRCm39) E422G possibly damaging Het
Pgr G T 9: 8,900,844 (GRCm39) E126* probably null Het
Pik3ap1 A G 19: 41,290,936 (GRCm39) V532A possibly damaging Het
Pla2g4c T C 7: 13,071,738 (GRCm39) I186T probably damaging Het
Pnkd G A 1: 74,388,564 (GRCm39) probably null Het
Poc1a A G 9: 106,226,908 (GRCm39) T334A probably damaging Het
Pou2f2 T A 7: 24,797,111 (GRCm39) K211* probably null Het
Rdh13 T C 7: 4,445,652 (GRCm39) E94G probably benign Het
Rnf186 A G 4: 138,694,498 (GRCm39) S13G probably benign Het
Ryr2 T C 13: 11,670,584 (GRCm39) R3471G probably damaging Het
Sbf2 T C 7: 109,971,742 (GRCm39) T831A probably damaging Het
Sh3gl2 A G 4: 85,316,403 (GRCm39) probably benign Het
Shoc1 T C 4: 59,082,404 (GRCm39) N408S probably benign Het
Snn T C 16: 10,890,397 (GRCm39) V72A probably benign Het
Sys1 T A 2: 164,306,344 (GRCm39) H99Q possibly damaging Het
Syt7 A G 19: 10,412,931 (GRCm39) K122R probably damaging Het
Tas1r2 T A 4: 139,396,311 (GRCm39) L550Q probably damaging Het
Tent5b T C 4: 133,213,681 (GRCm39) L184P probably benign Het
Thoc1 T C 18: 9,993,438 (GRCm39) I599T probably damaging Het
Tle3 C T 9: 61,281,279 (GRCm39) probably benign Het
Tll1 A C 8: 64,538,507 (GRCm39) V379G possibly damaging Het
Tnfrsf21 G A 17: 43,348,621 (GRCm39) E78K probably benign Het
Tpgs2 A G 18: 25,262,897 (GRCm39) probably benign Het
Trpm1 T C 7: 63,858,054 (GRCm39) L165P probably damaging Het
Ttbk2 A C 2: 120,570,551 (GRCm39) S1201A possibly damaging Het
Ust T A 10: 8,121,705 (GRCm39) H301L probably damaging Het
Vwa5a T C 9: 38,647,249 (GRCm39) F543L probably benign Het
Yeats2 T A 16: 19,971,645 (GRCm39) probably null Het
Zfp85 T C 13: 67,897,745 (GRCm39) Y109C probably damaging Het
Zfr2 T A 10: 81,079,547 (GRCm39) V362E probably benign Het
Znrf3 A T 11: 5,237,420 (GRCm39) C134S 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
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
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'- CACACAGTGGTCTTGTTCTAATGG -3'
(R):5'- TGACCTCTGCACTCACACAG -3'

Sequencing Primer
(F):5'- TGGATTAAAAAGTCCTACCTCCC -3'
(R):5'- TCTGCACTCACACAGATTGGAG -3'
Posted On 2016-02-04