Incidental Mutation 'R1713:Trpm8'
ID 190728
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 039746-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R1713 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 88234457-88318909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88292802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 934 (N934K)
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: N934K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: N934K

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: N934K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: N934K

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: N934K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: N934K

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 0.1472 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (96/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,964 (GRCm39) I54F possibly damaging Het
Ackr1 A T 1: 173,159,916 (GRCm39) H134Q probably benign Het
Agtr1b A T 3: 20,370,473 (GRCm39) F44L probably benign Het
Ahnak G A 19: 8,989,173 (GRCm39) D3486N possibly damaging Het
Akap9 T C 5: 4,089,345 (GRCm39) probably null Het
Anks6 T A 4: 47,039,726 (GRCm39) Q495L probably benign Het
Arpp21 A G 9: 111,896,237 (GRCm39) S684P probably damaging Het
Ash1l A G 3: 88,983,531 (GRCm39) E2911G probably damaging Het
Avpi1 C T 19: 42,113,248 (GRCm39) E70K probably damaging Het
Btbd17 G T 11: 114,686,650 (GRCm39) P9T probably benign Het
C4b A G 17: 34,948,245 (GRCm39) probably benign Het
Carm1 T C 9: 21,497,785 (GRCm39) V385A probably damaging Het
Casd1 A G 6: 4,624,104 (GRCm39) D299G probably damaging Het
Clca3a1 T A 3: 144,730,307 (GRCm39) K179N probably benign Het
Col1a2 T C 6: 4,538,691 (GRCm39) S1204P unknown Het
Col24a1 C T 3: 145,072,624 (GRCm39) Q780* probably null Het
Cxadr C A 16: 78,131,133 (GRCm39) N216K probably damaging Het
Daam1 C T 12: 71,942,656 (GRCm39) T40I unknown Het
Dab2 C T 15: 6,459,182 (GRCm39) P365S possibly damaging Het
Dnah1 A T 14: 31,001,139 (GRCm39) I2402N probably damaging Het
Dscaml1 T A 9: 45,663,988 (GRCm39) S1954R possibly damaging Het
Dync2h1 T C 9: 7,131,891 (GRCm39) T1639A probably benign Het
Ebf1 A T 11: 44,815,393 (GRCm39) I336F probably damaging Het
Ebna1bp2 A G 4: 118,482,881 (GRCm39) N290S possibly damaging Het
Gabra2 A G 5: 71,171,906 (GRCm39) I110T probably benign Het
Galk2 A G 2: 125,773,210 (GRCm39) N203S probably benign Het
Gria4 T C 9: 4,424,448 (GRCm39) T806A probably benign Het
Impg2 A G 16: 56,080,889 (GRCm39) T789A probably benign Het
Itga6 A G 2: 71,617,546 (GRCm39) T22A probably benign Het
Itgb4 T A 11: 115,894,315 (GRCm39) I1312N probably damaging Het
Kdm4c A G 4: 74,216,721 (GRCm39) D160G probably benign Het
Kdr A G 5: 76,129,127 (GRCm39) V173A probably benign Het
Kif14 T C 1: 136,455,202 (GRCm39) S1575P probably benign Het
Lcp1 G A 14: 75,436,884 (GRCm39) probably null Het
Lipe C A 7: 25,084,750 (GRCm39) S516I probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Macf1 A G 4: 123,272,487 (GRCm39) I6429T probably damaging Het
Map3k4 C T 17: 12,468,458 (GRCm39) E1012K probably benign Het
Map3k5 T C 10: 19,986,593 (GRCm39) F936L possibly damaging Het
Mllt3 A T 4: 87,701,901 (GRCm39) N497K probably damaging Het
Moxd1 G A 10: 24,157,394 (GRCm39) G342D probably damaging Het
Mtdh A C 15: 34,114,985 (GRCm39) Q202H possibly damaging Het
Nav1 A G 1: 135,522,972 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,886 (GRCm39) V109A possibly damaging Het
Obscn T C 11: 58,970,712 (GRCm39) D2540G probably damaging Het
Omg T C 11: 79,393,679 (GRCm39) I60V probably benign Het
Or10q12 A T 19: 13,746,659 (GRCm39) T318S probably benign Het
Or12e9 A T 2: 87,202,290 (GRCm39) Y138F probably damaging Het
Osbpl5 G A 7: 143,248,110 (GRCm39) H652Y probably damaging Het
Parvb T C 15: 84,182,192 (GRCm39) probably benign Het
Pcdhb3 A C 18: 37,436,375 (GRCm39) E780D probably benign Het
Pik3c3 A G 18: 30,456,639 (GRCm39) D723G possibly damaging Het
Prkdc T C 16: 15,612,958 (GRCm39) V3172A probably benign Het
Psme4 G T 11: 30,756,310 (GRCm39) W272L probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rhobtb1 A C 10: 69,108,601 (GRCm39) S434R probably benign Het
Rhobtb1 G C 10: 69,108,602 (GRCm39) S434T possibly damaging Het
Rnf8 T C 17: 29,853,735 (GRCm39) F413S probably damaging Het
Rpn2 A G 2: 157,156,888 (GRCm39) N497S probably damaging Het
Rsbn1l G T 5: 21,156,488 (GRCm39) P99Q probably benign Het
Serpinb3b A T 1: 107,083,164 (GRCm39) M246K probably benign Het
Sgsm2 T C 11: 74,787,652 (GRCm39) E19G probably null Het
Shank1 A G 7: 43,969,161 (GRCm39) H352R unknown Het
Slc17a7 A G 7: 44,819,728 (GRCm39) I177V probably benign Het
Slc28a2 T A 2: 122,281,494 (GRCm39) F228I probably damaging Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc38a1 T C 15: 96,476,641 (GRCm39) I407V probably damaging Het
Slc39a13 A G 2: 90,893,442 (GRCm39) V326A probably damaging Het
Slc44a5 T C 3: 153,944,743 (GRCm39) L120P probably damaging Het
Slfn3 T C 11: 83,104,140 (GRCm39) I214T probably damaging Het
Slitrk3 A C 3: 72,957,024 (GRCm39) S583A probably benign Het
Snx14 T C 9: 88,297,728 (GRCm39) Y180C probably damaging Het
Sorl1 T A 9: 41,907,538 (GRCm39) K1483I probably benign Het
Ssrp1 C A 2: 84,871,104 (GRCm39) H247N probably damaging Het
Stk39 A T 2: 68,137,460 (GRCm39) probably benign Het
Syde1 C T 10: 78,421,530 (GRCm39) G674R probably damaging Het
Tent4a A T 13: 69,651,170 (GRCm39) I565N probably benign Het
Themis3 G A 17: 66,862,848 (GRCm39) S370L probably benign Het
Tll1 T A 8: 64,554,907 (GRCm39) N259Y probably damaging Het
Tnip2 T G 5: 34,661,175 (GRCm39) probably benign Het
Top2b T C 14: 16,409,823 (GRCm38) V830A probably benign Het
Ttc14 A G 3: 33,857,069 (GRCm39) Y179C probably damaging Het
Ttn T G 2: 76,573,965 (GRCm39) I17316L possibly damaging Het
Tufm T C 7: 126,086,871 (GRCm39) V52A probably benign Het
Vamp8 T A 6: 72,365,270 (GRCm39) N20I probably benign Het
Vmn1r170 A T 7: 23,306,288 (GRCm39) H230L probably benign Het
Vmn2r50 T G 7: 9,771,731 (GRCm39) T657P probably damaging Het
Xirp2 G A 2: 67,342,762 (GRCm39) G1668R probably benign Het
Zik1 C A 7: 10,224,311 (GRCm39) R262L possibly damaging Het
Zscan25 T G 5: 145,220,501 (GRCm39) Y99D probably damaging 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
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
R4063:Trpm8 UTSW 1 88,289,727 (GRCm39) missense probably damaging 1.00
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'- GTTGACTCTTTAAGCTGACTGAGGAGG -3'
(R):5'- TGAGTGTGTGACGCAGACATACCC -3'

Sequencing Primer
(F):5'- tcttacccctaccctccttc -3'
(R):5'- CCAAACATGGCGACCAGG -3'
Posted On 2014-05-14