Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Trpm8'

349710

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

041931-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88234457-88318909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88264851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 320 (V320A)

Ref Sequence

ENSEMBL: ENSMUSP00000131209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040210] [ENSMUST00000113114] [ENSMUST00000171176]

AlphaFold

Q8R4D5

Predicted Effect

probably benign
Transcript: ENSMUST00000040210
AA Change: V320A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: V320A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000113114
AA Change: V320A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: V320A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000171176
AA Change: V320A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: V320A

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	Het

Other mutations in Trpm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4063:Trpm8	UTSW	1	88,289,727 (GRCm39)	missense	probably damaging	1.00
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'- ACGATGGGCTTACTTTTCCC -3'
(R):5'- ACTCACCCATTTGATCCAGC -3'

Sequencing Primer
(F):5'- ACAAAGCCACTGCAGTTGGTTTG -3'
(R):5'- AGCTCTCAATTTCCTCTTCAGGCAG -3'

Posted On

2015-10-08