Incidental Mutation 'R4734:Trpm5'
ID 359162
Institutional Source Beutler Lab
Gene Symbol Trpm5
Ensembl Gene ENSMUSG00000009246
Gene Name transient receptor potential cation channel, subfamily M, member 5
Synonyms 9430099A16Rik, Mtr1, Ltrpc5
MMRRC Submission 041961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4734 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 143069153-143094642 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143082785 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 472 (V472L)
Ref Sequence ENSEMBL: ENSMUSP00000114302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000150867]
AlphaFold Q9JJH7
Predicted Effect probably benign
Transcript: ENSMUST00000009390
AA Change: V472L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: V472L

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 benign
Transcript: ENSMUST00000150867
AA Change: V472L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: V472L

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,970,417 (GRCm38) M86K possibly damaging Het
2700062C07Rik A G 18: 24,470,904 (GRCm38) M1V probably null Het
Abcb11 T A 2: 69,323,962 (GRCm38) T87S possibly damaging Het
Arap3 A G 18: 37,996,275 (GRCm38) V210A probably benign Het
Avl9 T C 6: 56,736,494 (GRCm38) S246P probably damaging Het
Ccdc88a A G 11: 29,482,720 (GRCm38) K222R probably benign Het
Chsy3 C A 18: 59,179,413 (GRCm38) F319L probably benign Het
Coro2b T C 9: 62,426,578 (GRCm38) T345A probably benign Het
Cpb1 A G 3: 20,263,712 (GRCm38) V216A probably benign Het
Cyp2c65 A G 19: 39,072,334 (GRCm38) I213V probably benign Het
Dcaf15 A G 8: 84,097,728 (GRCm38) C586R probably benign Het
Ddr2 T A 1: 169,998,088 (GRCm38) E314D probably benign Het
Dennd5a C T 7: 109,896,336 (GRCm38) R1196H probably damaging Het
Dnah9 G A 11: 65,834,115 (GRCm38) A4404V probably damaging Het
Dpf2 A G 19: 5,906,999 (GRCm38) probably null Het
Eif2ak4 A T 2: 118,422,087 (GRCm38) H302L probably damaging Het
Eif2d G T 1: 131,165,152 (GRCm38) R399L probably damaging Het
Fat2 A G 11: 55,311,468 (GRCm38) V260A probably benign Het
Fhod3 T A 18: 25,028,135 (GRCm38) Y575N probably benign Het
Fscb T C 12: 64,474,470 (GRCm38) E74G possibly damaging Het
Gdpd2 G A X: 100,734,193 (GRCm38) M243I possibly damaging Het
Glra1 C A 11: 55,536,384 (GRCm38) D42Y probably damaging Het
Gm281 T C 14: 13,845,292 (GRCm38) N540S probably benign Het
Gm8882 T A 6: 132,361,928 (GRCm38) N109I unknown Het
Gnl2 T C 4: 125,041,018 (GRCm38) F156L probably benign Het
Gpr37 C A 6: 25,689,086 (GRCm38) R4L possibly damaging Het
Hectd4 A T 5: 121,341,977 (GRCm38) H2892L possibly damaging Het
Helb T C 10: 120,084,849 (GRCm38) D1063G probably benign Het
Htr2c A G X: 147,193,797 (GRCm38) T163A probably benign Het
Impact T A 18: 12,985,289 (GRCm38) H188Q probably damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Lnx2 C T 5: 147,029,137 (GRCm38) G391R probably damaging Het
Lrrc19 T C 4: 94,638,349 (GRCm38) I324V probably benign Het
Lrrcc1 G T 3: 14,562,285 (GRCm38) Q458H probably damaging Het
Maml3 A T 3: 51,689,875 (GRCm38) D483E probably damaging Het
Mef2c T A 13: 83,662,629 (GRCm38) *467R probably null Het
Mms19 T A 19: 41,944,558 (GRCm38) S1031C probably damaging Het
Myt1l T C 12: 29,919,926 (GRCm38) I143T possibly damaging Het
Nuggc T C 14: 65,623,230 (GRCm38) Y426H probably damaging Het
Oit3 A T 10: 59,424,082 (GRCm38) C500S probably damaging Het
Olfr464 T A 11: 87,914,190 (GRCm38) T239S probably damaging Het
Olfr470 T C 7: 107,845,428 (GRCm38) I102V probably benign Het
Olfr491 A T 7: 108,317,752 (GRCm38) N286I probably damaging Het
Olfr566 A G 7: 102,856,979 (GRCm38) I101T probably damaging Het
Oog2 T C 4: 144,196,451 (GRCm38) S429P probably benign Het
Pcnt T C 10: 76,437,206 (GRCm38) D93G probably benign Het
Pdia5 A T 16: 35,456,513 (GRCm38) M95K probably benign Het
Pdzrn4 A T 15: 92,770,252 (GRCm38) R762* probably null Het
Piezo1 G T 8: 122,498,206 (GRCm38) Q654K probably damaging Het
Ppil3 A G 1: 58,431,269 (GRCm38) Y141H probably benign Het
Rassf8 G T 6: 145,815,540 (GRCm38) K197N probably benign Het
Ryr2 T C 13: 11,737,753 (GRCm38) Q1894R probably damaging Het
Ryr3 T A 2: 112,910,502 (GRCm38) N487Y probably damaging Het
Scn5a T C 9: 119,539,538 (GRCm38) Y307C probably damaging Het
Sdad1 C T 5: 92,304,977 (GRCm38) R134Q possibly damaging Het
Shroom1 C T 11: 53,465,233 (GRCm38) S370F probably damaging Het
Slc29a3 A G 10: 60,716,326 (GRCm38) V313A probably benign Het
Slc2a9 C A 5: 38,382,099 (GRCm38) G353C probably damaging Het
Snx33 T A 9: 56,925,901 (GRCm38) T295S possibly damaging Het
Spata31d1b G A 13: 59,718,358 (GRCm38) V1107M probably damaging Het
Supt6 T C 11: 78,224,683 (GRCm38) D761G probably benign Het
Tfeb T C 17: 47,785,862 (GRCm38) V18A probably benign Het
Thap12 G T 7: 98,715,954 (GRCm38) C443F probably damaging Het
Thap12 T A 7: 98,715,955 (GRCm38) C443* probably null Het
Tmem67 T C 4: 12,063,158 (GRCm38) D496G probably benign Het
Trappc8 G A 18: 20,841,572 (GRCm38) R900* probably null Het
Trim9 T C 12: 70,248,273 (GRCm38) N688D probably damaging Het
Trmt1l A T 1: 151,442,637 (GRCm38) I80L probably benign Het
Tspear C T 10: 77,864,695 (GRCm38) L120F probably damaging Het
Ttc9b G A 7: 27,656,018 (GRCm38) V238M probably benign Het
Usp20 A G 2: 31,019,824 (GRCm38) I819V probably benign Het
Vmn2r102 T A 17: 19,677,533 (GRCm38) V270E probably damaging Het
Vmn2r63 C T 7: 42,928,120 (GRCm38) M331I probably benign Het
Zc3h18 A T 8: 122,383,643 (GRCm38) D77V probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 105,483,744 (GRCm38) probably null Het
Other mutations in Trpm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Trpm5 APN 7 143,082,991 (GRCm38) missense probably benign 0.03
IGL00717:Trpm5 APN 7 143,073,990 (GRCm38) missense probably damaging 1.00
IGL01138:Trpm5 APN 7 143,074,569 (GRCm38) missense probably benign
IGL01590:Trpm5 APN 7 143,082,734 (GRCm38) missense probably damaging 0.99
IGL01603:Trpm5 APN 7 143,075,601 (GRCm38) missense probably benign 0.04
IGL01685:Trpm5 APN 7 143,082,354 (GRCm38) missense probably benign 0.05
IGL01878:Trpm5 APN 7 143,074,497 (GRCm38) missense probably damaging 1.00
IGL02533:Trpm5 APN 7 143,089,545 (GRCm38) missense probably benign 0.01
IGL02572:Trpm5 APN 7 143,087,876 (GRCm38) splice site probably benign
IGL02750:Trpm5 APN 7 143,074,484 (GRCm38) missense possibly damaging 0.89
IGL02862:Trpm5 APN 7 143,082,525 (GRCm38) missense probably damaging 1.00
R0032:Trpm5 UTSW 7 143,085,241 (GRCm38) missense probably damaging 1.00
R0238:Trpm5 UTSW 7 143,082,958 (GRCm38) missense probably damaging 1.00
R0238:Trpm5 UTSW 7 143,082,958 (GRCm38) missense probably damaging 1.00
R0239:Trpm5 UTSW 7 143,082,958 (GRCm38) missense probably damaging 1.00
R0239:Trpm5 UTSW 7 143,082,958 (GRCm38) missense probably damaging 1.00
R0334:Trpm5 UTSW 7 143,086,876 (GRCm38) missense probably benign 0.06
R0799:Trpm5 UTSW 7 143,078,351 (GRCm38) missense probably damaging 0.99
R1187:Trpm5 UTSW 7 143,074,469 (GRCm38) missense probably damaging 0.96
R1373:Trpm5 UTSW 7 143,086,842 (GRCm38) splice site probably benign
R1521:Trpm5 UTSW 7 143,082,889 (GRCm38) missense probably benign 0.00
R1603:Trpm5 UTSW 7 143,085,209 (GRCm38) missense probably benign 0.00
R1606:Trpm5 UTSW 7 143,085,171 (GRCm38) nonsense probably null
R2009:Trpm5 UTSW 7 143,087,738 (GRCm38) missense possibly damaging 0.58
R2437:Trpm5 UTSW 7 143,082,561 (GRCm38) missense probably benign 0.03
R2508:Trpm5 UTSW 7 143,088,919 (GRCm38) missense possibly damaging 0.80
R2516:Trpm5 UTSW 7 143,074,517 (GRCm38) missense probably damaging 1.00
R2985:Trpm5 UTSW 7 143,082,938 (GRCm38) missense probably damaging 0.99
R3036:Trpm5 UTSW 7 143,085,463 (GRCm38) missense probably benign 0.00
R3037:Trpm5 UTSW 7 143,085,463 (GRCm38) missense probably benign 0.00
R3688:Trpm5 UTSW 7 143,078,456 (GRCm38) missense probably damaging 0.98
R4156:Trpm5 UTSW 7 143,089,055 (GRCm38) missense probably benign 0.04
R4811:Trpm5 UTSW 7 143,080,219 (GRCm38) missense probably damaging 1.00
R4814:Trpm5 UTSW 7 143,082,636 (GRCm38) missense possibly damaging 0.50
R4847:Trpm5 UTSW 7 143,087,763 (GRCm38) missense possibly damaging 0.89
R5055:Trpm5 UTSW 7 143,072,784 (GRCm38) missense probably benign 0.00
R5256:Trpm5 UTSW 7 143,082,303 (GRCm38) missense probably damaging 1.00
R5413:Trpm5 UTSW 7 143,080,968 (GRCm38) missense probably damaging 1.00
R5668:Trpm5 UTSW 7 143,073,229 (GRCm38) missense probably benign 0.39
R6133:Trpm5 UTSW 7 143,088,951 (GRCm38) missense probably damaging 0.98
R6242:Trpm5 UTSW 7 143,073,182 (GRCm38) missense probably benign
R6564:Trpm5 UTSW 7 143,072,770 (GRCm38) missense probably damaging 1.00
R6702:Trpm5 UTSW 7 143,069,318 (GRCm38) unclassified probably benign
R6703:Trpm5 UTSW 7 143,069,318 (GRCm38) unclassified probably benign
R6829:Trpm5 UTSW 7 143,069,429 (GRCm38) unclassified probably benign
R6940:Trpm5 UTSW 7 143,084,810 (GRCm38) nonsense probably null
R7337:Trpm5 UTSW 7 143,089,019 (GRCm38) missense probably benign 0.01
R7513:Trpm5 UTSW 7 143,081,835 (GRCm38) missense possibly damaging 0.84
R7560:Trpm5 UTSW 7 143,080,986 (GRCm38) missense probably damaging 1.00
R7801:Trpm5 UTSW 7 143,085,241 (GRCm38) missense probably damaging 1.00
R7961:Trpm5 UTSW 7 143,080,369 (GRCm38) missense probably benign 0.00
R8009:Trpm5 UTSW 7 143,080,369 (GRCm38) missense probably benign 0.00
R8189:Trpm5 UTSW 7 143,081,838 (GRCm38) missense probably benign 0.32
R8441:Trpm5 UTSW 7 143,072,434 (GRCm38) missense possibly damaging 0.75
R8507:Trpm5 UTSW 7 143,078,313 (GRCm38) missense probably damaging 1.00
R8825:Trpm5 UTSW 7 143,083,016 (GRCm38) missense possibly damaging 0.94
R9443:Trpm5 UTSW 7 143,085,123 (GRCm38) missense probably benign
R9577:Trpm5 UTSW 7 143,079,394 (GRCm38) critical splice donor site probably null
R9608:Trpm5 UTSW 7 143,079,411 (GRCm38) missense possibly damaging 0.83
R9647:Trpm5 UTSW 7 143,080,761 (GRCm38) missense possibly damaging 0.95
X0022:Trpm5 UTSW 7 143,083,042 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTTCCTACTGAGGTCTGGCAG -3'
(R):5'- ACAAGCCTGACTTTGTCCGC -3'

Sequencing Primer
(F):5'- TGAGGTCTGGCAGCCACTTC -3'
(R):5'- ACATGGCCGAGTTCTTGAC -3'
Posted On 2015-11-11