Incidental Mutation 'R5055:Trpm5'
ID 390780
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 042645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5055 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 142625266-142648379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142626521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1112 (M1112K)
Ref Sequence ENSEMBL: ENSMUSP00000009390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000037941] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000133410] [ENSMUST00000208779] [ENSMUST00000177841] [ENSMUST00000137856] [ENSMUST00000147995] [ENSMUST00000150867]
AlphaFold Q9JJH7
Predicted Effect probably benign
Transcript: ENSMUST00000009390
AA Change: M1112K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: M1112K

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 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: M52K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150589
Predicted Effect unknown
Transcript: ENSMUST00000148715
AA Change: M120K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207776
Predicted Effect probably benign
Transcript: ENSMUST00000208779
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: 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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (84/86)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,013,996 (GRCm39) V329I probably damaging Het
Adgrl3 C A 5: 81,794,398 (GRCm39) A541E possibly damaging Het
Agbl1 A T 7: 76,063,325 (GRCm39) I263F probably damaging Het
Ash1l T C 3: 88,930,519 (GRCm39) probably null Het
Bccip A G 7: 133,316,652 (GRCm39) T91A probably benign Het
Bnc1 A T 7: 81,624,163 (GRCm39) F355I probably damaging Het
Bpifa2 A T 2: 153,855,630 (GRCm39) D185V probably damaging Het
Capn8 T A 1: 182,399,526 (GRCm39) V89D probably damaging Het
Cfap46 A T 7: 139,241,106 (GRCm39) M421K probably damaging Het
Chd2 A T 7: 73,130,256 (GRCm39) L800M probably damaging Het
Chd4 A G 6: 125,077,949 (GRCm39) D137G possibly damaging Het
Crtap A G 9: 114,219,208 (GRCm39) Y154H probably benign Het
Ctdp1 T A 18: 80,499,303 (GRCm39) Q213L probably damaging Het
Cts6 T C 13: 61,344,164 (GRCm39) Y296C probably damaging Het
Daxx G T 17: 34,131,134 (GRCm39) V354F probably benign Het
Dnah2 A G 11: 69,411,599 (GRCm39) I341T possibly damaging Het
Epha2 A G 4: 141,036,380 (GRCm39) D272G probably benign Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fbxl7 C A 15: 26,553,022 (GRCm39) G82W probably damaging Het
Fcamr G A 1: 130,739,174 (GRCm39) C158Y probably damaging Het
Fyb1 A C 15: 6,614,630 (GRCm39) probably benign Het
Gars1 G A 6: 55,045,077 (GRCm39) R454H probably damaging Het
Ghsr T C 3: 27,426,421 (GRCm39) V159A probably benign Het
Glp1r A T 17: 31,137,861 (GRCm39) Q97H probably benign Het
Gm27047 T C 6: 130,606,909 (GRCm39) noncoding transcript Het
Igkv3-3 A C 6: 70,664,223 (GRCm39) I22L probably benign Het
Inpp5b G T 4: 124,636,824 (GRCm39) probably null Het
Ipo9 C A 1: 135,330,097 (GRCm39) E448* probably null Het
Itgb2l A T 16: 96,229,003 (GRCm39) I400N probably damaging Het
Kat6b T A 14: 21,567,062 (GRCm39) H40Q probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnq2 G T 2: 180,728,554 (GRCm39) probably benign Het
Klf7 T C 1: 64,118,439 (GRCm39) T53A probably benign Het
Kmt2a A G 9: 44,729,649 (GRCm39) probably benign Het
Lrp10 C T 14: 54,705,802 (GRCm39) R331C probably benign Het
Map4k5 A T 12: 69,878,332 (GRCm39) D289E probably benign Het
Mfsd4b2 A T 10: 39,799,773 (GRCm39) M43K possibly damaging Het
Msr1 T G 8: 40,076,997 (GRCm39) R138S possibly damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Myh9 G A 15: 77,648,723 (GRCm39) A1711V probably benign Het
Myo18b A G 5: 113,023,083 (GRCm39) probably benign Het
Nampt A T 12: 32,883,120 (GRCm39) N102Y possibly damaging Het
Nell2 T C 15: 95,371,460 (GRCm39) I92V probably benign Het
Nes A G 3: 87,884,521 (GRCm39) N883D probably benign Het
Neurl3 T A 1: 36,312,463 (GRCm39) probably benign Het
Ocln T A 13: 100,675,930 (GRCm39) T188S probably benign Het
Or2ag20 T A 7: 106,464,937 (GRCm39) M250K probably damaging Het
Or5m10 T C 2: 85,717,585 (GRCm39) F147S probably benign Het
Parp14 T A 16: 35,664,733 (GRCm39) Q1305L probably benign Het
Pde3a C T 6: 141,433,682 (GRCm39) Q855* probably null Het
Pde4b T C 4: 102,052,311 (GRCm39) probably benign Het
Pdk2 T C 11: 94,930,242 (GRCm39) M65V probably benign Het
Phf21a T C 2: 92,182,201 (GRCm39) S377P probably damaging Het
Plcb2 T A 2: 118,548,703 (GRCm39) T408S probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ppp6r2 A G 15: 89,167,152 (GRCm39) D789G probably benign Het
Prdm16 T C 4: 154,419,719 (GRCm39) M897V possibly damaging Het
Prss57 A G 10: 79,620,178 (GRCm39) probably null Het
Psd G T 19: 46,310,907 (GRCm39) L381I probably benign Het
Ptprq A T 10: 107,370,540 (GRCm39) D2050E probably benign Het
Rfc1 G T 5: 65,423,505 (GRCm39) N1034K probably damaging Het
Ryr3 C T 2: 112,661,504 (GRCm39) G1829S probably benign Het
Scaper T C 9: 55,767,003 (GRCm39) probably null Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Slc28a1 A G 7: 80,818,796 (GRCm39) N583S possibly damaging Het
Slc35e3 C T 10: 117,580,884 (GRCm39) G140D probably damaging Het
Slc6a9 G A 4: 117,725,347 (GRCm39) probably null Het
Sptlc1 A G 13: 53,496,218 (GRCm39) S376P probably benign Het
Sspo G A 6: 48,441,729 (GRCm39) C1913Y probably damaging Het
Taar7b A T 10: 23,876,845 (GRCm39) I337F possibly damaging Het
Tdpoz2 T A 3: 93,559,235 (GRCm39) I246F probably damaging Het
Trpa1 C T 1: 14,946,183 (GRCm39) V983M probably damaging Het
Tsbp1 G A 17: 34,667,770 (GRCm39) C154Y possibly damaging Het
Uso1 A T 5: 92,340,594 (GRCm39) K670I probably benign Het
Washc4 A G 10: 83,392,771 (GRCm39) D257G probably damaging Het
Wdr41 T A 13: 95,151,725 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,860 (GRCm39) Q668R 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
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'- TAACCGACCTCTAGCACAGG -3'
(R):5'- GAGCTGGTCCAACAAAACCTAG -3'

Sequencing Primer
(F):5'- ACCTCTAGCACAGGTGGAG -3'
(R):5'- TGGTCCAACAAAACCTAGGTTCAG -3'
Posted On 2016-06-06