Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02075:Trpm8'

185970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm8

Ensembl Gene

ENSMUSG00000036251

Gene Name

transient receptor potential cation channel, subfamily M, member 8

Synonyms

Trp-p8, TRPP8, CMR1

Accession Numbers

Essential gene?

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

Stock #

IGL02075

Quality Score

Status

Chromosome

Chromosomal Location

88234457-88318909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88253210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

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: T100A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: T100A

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 damaging
Transcript: ENSMUST00000113114
AA Change: T100A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: T100A

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 damaging
Transcript: ENSMUST00000171176
AA Change: T100A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: T100A

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,224 (GRCm39)		noncoding transcript	Het
Abcd4	A	T	12: 84,655,578 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,254,667 (GRCm39)	M1548K	probably benign	Het
Als2	A	G	1: 59,246,945 (GRCm39)	S565P	probably damaging	Het
Atm	T	C	9: 53,438,537 (GRCm39)	I126M	probably damaging	Het
Btbd9	G	A	17: 30,493,910 (GRCm39)	R494*	probably null	Het
Coro1c	G	T	5: 113,982,454 (GRCm39)	R461S	probably damaging	Het
Gtf2h1	A	G	7: 46,451,165 (GRCm39)	K19E	probably damaging	Het
Kcnc1	A	G	7: 46,077,397 (GRCm39)	T400A	probably damaging	Het
Kcnh5	T	C	12: 75,134,379 (GRCm39)	Y390C	probably benign	Het
Ly75	G	T	2: 60,182,700 (GRCm39)	S534R	probably damaging	Het
Mapk15	A	G	15: 75,866,737 (GRCm39)	E38G	probably benign	Het
Or9i2	T	A	19: 13,815,830 (GRCm39)	T236S	probably damaging	Het
Otof	A	T	5: 30,528,070 (GRCm39)	N1924K	probably benign	Het
Plekhm2	T	A	4: 141,355,617 (GRCm39)	H861L	probably benign	Het
Pramel25	T	A	4: 143,521,602 (GRCm39)	F406Y	probably benign	Het
Rufy4	A	T	1: 74,168,518 (GRCm39)	K100N	probably damaging	Het
Sptbn1	T	C	11: 30,088,496 (GRCm39)	E879G	probably damaging	Het
Stab2	T	C	10: 86,803,514 (GRCm39)	N345S	possibly damaging	Het
Tacc2	C	T	7: 130,330,582 (GRCm39)	P1996S	probably benign	Het
Tfcp2	A	G	15: 100,411,061 (GRCm39)		probably benign	Het
Trrap	A	G	5: 144,765,304 (GRCm39)	T2507A	probably benign	Het
Vmn2r118	T	C	17: 55,917,517 (GRCm39)	T332A	probably benign	Het
Zfp189	T	A	4: 49,522,445 (GRCm39)	D27E	probably damaging	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
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
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

Posted On

2014-05-07