Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Trpm8'

500532

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

040096-MU

Accession Numbers

Essential gene?

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

Stock #

R2091 (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 88271048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 446 (I446T)

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: I446T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: I446T

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: I446T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: I446T

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

noncoding transcript
Transcript: ENSMUST00000147594

Predicted Effect

probably damaging
Transcript: ENSMUST00000171176
AA Change: I446T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: I446T

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

Meta Mutation Damage Score

0.6694

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
AA986860	T	C	1: 130,670,906 (GRCm39)	L376P	probably benign	Het
Adamts10	T	C	17: 33,770,166 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,493 (GRCm39)		probably null	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,100,586 (GRCm39)	K297R	probably benign	Het
Armh3	A	T	19: 45,941,119 (GRCm39)	L300Q	probably damaging	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,642,968 (GRCm39)	V1046F	probably benign	Het
Best1	A	G	19: 9,969,443 (GRCm39)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	T	C	3: 37,008,119 (GRCm39)	V1725A	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Cacna1h	C	T	17: 25,651,850 (GRCm39)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Cd248	A	T	19: 5,120,074 (GRCm39)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,884,262 (GRCm39)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 106,928,203 (GRCm39)	H113R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddx59	T	A	1: 136,344,447 (GRCm39)	D39E	probably benign	Het
Defa5	A	G	8: 21,787,513 (GRCm39)	D20G	probably damaging	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dlc1	A	T	8: 37,404,763 (GRCm39)	V342E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,616,022 (GRCm39)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Fbp2	G	T	13: 63,006,021 (GRCm39)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,920,460 (GRCm39)	E415G	probably damaging	Het
Glp1r	T	C	17: 31,144,523 (GRCm39)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,729,619 (GRCm39)		noncoding transcript	Het
Gm42669	G	A	5: 107,655,776 (GRCm39)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,582,176 (GRCm39)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,795,624 (GRCm39)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm39)	Q715*	probably null	Het
Lamb1	T	A	12: 31,337,428 (GRCm39)	N386K	probably damaging	Het
Lcmt2	T	C	2: 120,969,097 (GRCm39)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,780,727 (GRCm39)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,687,010 (GRCm39)		probably benign	Het
Mlip	C	T	9: 77,072,145 (GRCm39)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,338,488 (GRCm39)	H442L	probably damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,149,578 (GRCm39)	L395P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nsun6	A	G	2: 15,044,542 (GRCm39)		probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Or4k51	A	T	2: 111,584,731 (GRCm39)	M46L	probably benign	Het
Or5aq7	T	C	2: 86,938,606 (GRCm39)	N42D	probably damaging	Het
Or5p70	A	G	7: 107,995,068 (GRCm39)	H247R	probably damaging	Het
Pate4	C	A	9: 35,519,553 (GRCm39)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm39)		probably benign	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,718,494 (GRCm39)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,778,156 (GRCm39)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,411,285 (GRCm39)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Sacs	A	T	14: 61,429,368 (GRCm39)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,174,482 (GRCm39)		probably benign	Het
Slc24a2	G	T	4: 86,929,883 (GRCm39)	P538T	probably damaging	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
St18	G	A	1: 6,898,195 (GRCm39)	V666M	probably benign	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,514,484 (GRCm39)	I428V	possibly damaging	Het
Th	T	A	7: 142,449,280 (GRCm39)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trdv1	C	A	14: 54,119,626 (GRCm39)	Q96K	probably benign	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Ttn	C	T	2: 76,565,355 (GRCm39)	G26545R	probably damaging	Het
Ttn	T	C	2: 76,587,488 (GRCm39)	D13208G	probably damaging	Het
Tubb3	A	G	8: 124,148,417 (GRCm39)		probably null	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Wrn	T	A	8: 33,757,853 (GRCm39)	H812L	probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	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
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

Posted On

2017-12-01