Incidental Mutation 'R4063:Trpm8'
ID 315941
Institutional Source Beutler Lab
Gene Symbol Trpm8
Ensembl Gene ENSMUSG00000036251
Gene Name transient receptor potential cation channel, subfamily M, member 8
Synonyms Trp-p8, TRPP8, CMR1
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 88234457-88318909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88289727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 895 (R895H)
Ref Sequence ENSEMBL: ENSMUSP00000131209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040210] [ENSMUST00000113114] [ENSMUST00000171176]
AlphaFold Q8R4D5
Predicted Effect probably damaging
Transcript: ENSMUST00000040210
AA Change: R895H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: R895H

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
transmembrane domain 693 712 N/A INTRINSIC
transmembrane domain 724 758 N/A INTRINSIC
Pfam:Ion_trans 769 979 4.7e-10 PFAM
low complexity region 1026 1036 N/A INTRINSIC
coiled coil region 1069 1104 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113114
AA Change: R895H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: R895H

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
transmembrane domain 693 712 N/A INTRINSIC
transmembrane domain 724 758 N/A INTRINSIC
Pfam:Ion_trans 769 979 4.7e-10 PFAM
low complexity region 1026 1036 N/A INTRINSIC
coiled coil region 1069 1104 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171176
AA Change: R895H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: R895H

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
transmembrane domain 693 712 N/A INTRINSIC
transmembrane domain 724 758 N/A INTRINSIC
transmembrane domain 763 780 N/A INTRINSIC
transmembrane domain 793 815 N/A INTRINSIC
transmembrane domain 825 847 N/A INTRINSIC
transmembrane domain 867 889 N/A INTRINSIC
transmembrane domain 954 976 N/A INTRINSIC
low complexity region 1026 1036 N/A INTRINSIC
coiled coil region 1069 1104 N/A INTRINSIC
Meta Mutation Damage Score 0.1979 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to cold and reduced response to cold stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown Het
Other mutations in Trpm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Trpm8 APN 1 88,307,549 (GRCm39) missense possibly damaging 0.82
IGL01387:Trpm8 APN 1 88,271,009 (GRCm39) missense probably damaging 1.00
IGL01933:Trpm8 APN 1 88,254,127 (GRCm39) missense probably damaging 0.98
IGL02075:Trpm8 APN 1 88,253,210 (GRCm39) missense probably damaging 1.00
IGL02184:Trpm8 APN 1 88,258,416 (GRCm39) critical splice acceptor site probably null
IGL02342:Trpm8 APN 1 88,255,972 (GRCm39) missense possibly damaging 0.58
IGL02416:Trpm8 APN 1 88,288,438 (GRCm39) missense probably damaging 1.00
IGL02696:Trpm8 APN 1 88,275,773 (GRCm39) missense probably damaging 1.00
IGL02807:Trpm8 APN 1 88,275,830 (GRCm39) missense probably damaging 1.00
R0078:Trpm8 UTSW 1 88,255,870 (GRCm39) splice site probably benign
R1183:Trpm8 UTSW 1 88,275,813 (GRCm39) missense probably damaging 1.00
R1608:Trpm8 UTSW 1 88,254,154 (GRCm39) missense probably benign
R1713:Trpm8 UTSW 1 88,292,802 (GRCm39) missense probably damaging 1.00
R1724:Trpm8 UTSW 1 88,278,578 (GRCm39) missense possibly damaging 0.86
R1966:Trpm8 UTSW 1 88,260,470 (GRCm39) splice site probably null
R2089:Trpm8 UTSW 1 88,271,048 (GRCm39) missense probably damaging 0.99
R2091:Trpm8 UTSW 1 88,271,048 (GRCm39) missense probably damaging 0.99
R2091:Trpm8 UTSW 1 88,271,048 (GRCm39) missense probably damaging 0.99
R2384:Trpm8 UTSW 1 88,287,378 (GRCm39) missense probably benign 0.00
R2475:Trpm8 UTSW 1 88,282,171 (GRCm39) missense probably damaging 1.00
R3726:Trpm8 UTSW 1 88,255,918 (GRCm39) missense probably benign 0.00
R3745:Trpm8 UTSW 1 88,276,049 (GRCm39) missense probably benign 0.21
R4678:Trpm8 UTSW 1 88,264,851 (GRCm39) missense probably benign 0.07
R4681:Trpm8 UTSW 1 88,312,427 (GRCm39) missense possibly damaging 0.63
R5031:Trpm8 UTSW 1 88,275,910 (GRCm39) missense probably benign 0.00
R5620:Trpm8 UTSW 1 88,287,373 (GRCm39) critical splice acceptor site probably null
R5644:Trpm8 UTSW 1 88,287,461 (GRCm39) missense possibly damaging 0.54
R5734:Trpm8 UTSW 1 88,283,002 (GRCm39) missense probably benign 0.01
R5839:Trpm8 UTSW 1 88,253,228 (GRCm39) missense possibly damaging 0.57
R5844:Trpm8 UTSW 1 88,312,433 (GRCm39) makesense probably null
R5845:Trpm8 UTSW 1 88,255,902 (GRCm39) missense probably benign 0.00
R5926:Trpm8 UTSW 1 88,258,469 (GRCm39) missense probably damaging 0.99
R5940:Trpm8 UTSW 1 88,279,137 (GRCm39) nonsense probably null
R6031:Trpm8 UTSW 1 88,282,191 (GRCm39) missense possibly damaging 0.95
R6031:Trpm8 UTSW 1 88,282,191 (GRCm39) missense possibly damaging 0.95
R6088:Trpm8 UTSW 1 88,234,400 (GRCm39) start gained probably benign
R6283:Trpm8 UTSW 1 88,276,054 (GRCm39) missense probably benign 0.09
R6299:Trpm8 UTSW 1 88,282,201 (GRCm39) missense probably damaging 1.00
R6367:Trpm8 UTSW 1 88,287,405 (GRCm39) missense probably damaging 1.00
R6526:Trpm8 UTSW 1 88,289,720 (GRCm39) missense probably damaging 0.98
R6682:Trpm8 UTSW 1 88,254,224 (GRCm39) missense probably damaging 0.96
R6751:Trpm8 UTSW 1 88,312,428 (GRCm39) missense possibly damaging 0.63
R7057:Trpm8 UTSW 1 88,289,802 (GRCm39) missense probably null 0.99
R7489:Trpm8 UTSW 1 88,307,481 (GRCm39) missense possibly damaging 0.85
R7520:Trpm8 UTSW 1 88,271,043 (GRCm39) missense probably benign 0.00
R7597:Trpm8 UTSW 1 88,255,918 (GRCm39) missense probably damaging 0.97
R7774:Trpm8 UTSW 1 88,258,563 (GRCm39) missense probably damaging 0.99
R7839:Trpm8 UTSW 1 88,254,176 (GRCm39) missense possibly damaging 0.83
R7948:Trpm8 UTSW 1 88,302,091 (GRCm39) nonsense probably null
R8176:Trpm8 UTSW 1 88,292,837 (GRCm39) missense probably benign 0.06
R8222:Trpm8 UTSW 1 88,253,390 (GRCm39) splice site probably null
R8946:Trpm8 UTSW 1 88,276,061 (GRCm39) splice site probably benign
R9121:Trpm8 UTSW 1 88,312,423 (GRCm39) missense probably benign 0.17
R9290:Trpm8 UTSW 1 88,246,767 (GRCm39) missense probably damaging 1.00
R9564:Trpm8 UTSW 1 88,254,158 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TCTGGCTGCTGGAACTTCTC -3'
(R):5'- ACTGTCCCACTCTAACTGGTAG -3'

Sequencing Primer
(F):5'- GCTGGAACTTCTCTCTGCCTG -3'
(R):5'- ATGCCTGTAATCTCAGCAGG -3'
Posted On 2015-05-15