Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Trpa1'

168922

Institutional Source

Beutler Lab

Gene Symbol

Trpa1

Ensembl Gene

ENSMUSG00000032769

Gene Name

transient receptor potential cation channel, subfamily A, member 1

Synonyms

ANKTM1

MMRRC Submission

039548-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14872648-14918862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14885812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 778 (I778V)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041447]

AlphaFold

Q8BLA8

Predicted Effect

probably benign
Transcript: ENSMUST00000041447
AA Change: I778V

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: I778V

Domain	Start	End	E-Value	Type
ANK	63	94	1.01e2	SMART
ANK	98	127	9.7e-8	SMART
ANK	131	161	1.36e-2	SMART
ANK	165	194	5.45e-2	SMART
ANK	198	226	3.07e2	SMART
ANK	239	268	1.99e-4	SMART
ANK	272	302	1.33e2	SMART
ANK	309	338	4.19e-3	SMART
ANK	342	371	2.34e-1	SMART
ANK	413	442	3.41e-3	SMART
ANK	446	475	5.75e-1	SMART
ANK	482	511	4.1e-6	SMART
ANK	514	543	1.68e-2	SMART
ANK	548	577	4.97e-5	SMART
Blast:ANK	580	609	2e-11	BLAST
Pfam:Ion_trans	736	975	1.8e-11	PFAM

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in altered nociception and neuron responses to isothiocyanate or thiosulfinate compounds like those found in mustard oil and garlic. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,973,821		probably benign	Het
Abhd17a	A	G	10: 80,584,330		probably benign	Het
Acacb	G	A	5: 114,196,807	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,928,311	M262V	probably benign	Het
Anapc7	T	A	5: 122,435,515		probably benign	Het
Car5b	T	A	X: 163,988,404	K188N	probably benign	Het
Caskin1	C	T	17: 24,504,541	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938	S331P	probably benign	Het
Ccdc68	C	T	18: 69,960,514		probably benign	Het
Cd44	A	T	2: 102,842,955		probably null	Het
Celsr3	A	G	9: 108,848,865	S3090G	probably benign	Het
Clasp1	A	T	1: 118,552,058	M1023L	probably benign	Het
Clec16a	T	C	16: 10,635,259	F608S	probably damaging	Het
Col7a1	A	C	9: 108,978,825	E2531A	unknown	Het
Ctc1	T	A	11: 69,022,561	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,782,022		noncoding transcript	Het
Cyp2j6	T	A	4: 96,531,661	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,904,113	S723R	probably damaging	Het
Dhx8	A	G	11: 101,735,387		probably benign	Het
Dnah17	A	T	11: 118,114,233	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,752,075	T2701K	probably damaging	Het
Eml3	T	A	19: 8,936,369	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,272,247	E96G	possibly damaging	Het
Ezr	T	C	17: 6,742,708	H314R	probably benign	Het
Fam193b	G	T	13: 55,554,434	H43Q	probably damaging	Het
Fam208b	T	C	13: 3,570,409	E2164G	probably damaging	Het
Fam217a	T	A	13: 34,911,212	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,384,802	Q89H	probably damaging	Het
Flg2	A	T	3: 93,219,769	H1996L	unknown	Het
Gabpb1	C	T	2: 126,639,249	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,437,939	V36A	probably benign	Het
Hspg2	A	G	4: 137,548,096	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,577,995		probably null	Het
Ipo13	T	C	4: 117,904,659	D448G	probably benign	Het
Kcnq5	T	C	1: 21,402,386	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,736,266	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,314,515	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,747,329	F235S	probably damaging	Het
Maml1	A	C	11: 50,265,707	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,493,863	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,257,381	N534K	possibly damaging	Het
Mcat	G	A	15: 83,549,252	Q34*	probably null	Het
Mcu	T	A	10: 59,448,848	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,009,791	P199T	probably benign	Het
Mndal	A	T	1: 173,872,875	S177T	probably benign	Het
Mpeg1	G	T	19: 12,461,247	C23F	probably benign	Het
Mup15	T	A	4: 61,438,234	Y98F	probably benign	Het
Myh8	T	C	11: 67,289,812	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,753,218		probably benign	Het
Nlrp4e	T	C	7: 23,320,372	S95P	probably benign	Het
Olfr1196	T	C	2: 88,700,762	D189G	probably damaging	Het
Olfr378	T	A	11: 73,425,827	D52V	possibly damaging	Het
Otop2	A	G	11: 115,329,849		probably null	Het
Pcnx4	G	C	12: 72,574,400	G998A	probably benign	Het
Pnkd	C	A	1: 74,351,522		probably null	Het
Ppp4r4	T	A	12: 103,606,945	V701E	probably benign	Het
Ryr2	A	G	13: 11,601,841	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Sdk2	G	A	11: 113,893,575		probably benign	Het
Serpinb5	A	T	1: 106,876,052	Q156L	probably benign	Het
Setdb1	A	T	3: 95,327,467	V975D	probably benign	Het
Shc1	A	G	3: 89,428,445	*470W	probably null	Het
Sik3	T	A	9: 46,202,022	V587E	probably damaging	Het
Sik3	C	A	9: 46,221,089	H1276Q	probably benign	Het
Spata7	T	C	12: 98,668,861	I384T	probably damaging	Het
Tanc2	T	A	11: 105,922,137	V1469D	probably benign	Het
Tdrd5	A	T	1: 156,255,802	N888K	probably benign	Het
Tex22	T	C	12: 113,075,380	S34P	probably benign	Het
Tmed6	T	C	8: 107,064,122	T98A	probably benign	Het
Trim66	G	A	7: 109,484,619	P141L	probably benign	Het
Urb2	T	A	8: 124,028,077	H174Q	probably damaging	Het
Usb1	T	C	8: 95,338,697	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,137,409	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,611,794	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,620,990	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,167,363	V210A	probably benign	Het
Wdr17	A	T	8: 54,672,501	I448K	possibly damaging	Het
Zfp768	T	A	7: 127,343,561	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,771,105	N617Y	probably damaging	Het

Other mutations in Trpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Trpa1	APN	1	14891333	missense	probably damaging	0.97
IGL00937:Trpa1	APN	1	14880277	splice site	probably benign
IGL00957:Trpa1	APN	1	14881668	missense	probably damaging	0.99
IGL01307:Trpa1	APN	1	14896547	missense	probably benign	0.23
IGL01336:Trpa1	APN	1	14886880	splice site	probably benign
IGL01408:Trpa1	APN	1	14889413	missense	probably benign	0.03
IGL01504:Trpa1	APN	1	14882219	missense	possibly damaging	0.79
IGL01543:Trpa1	APN	1	14900076	missense	probably damaging	1.00
IGL01609:Trpa1	APN	1	14912383	missense	probably damaging	0.99
IGL01895:Trpa1	APN	1	14887643	missense	possibly damaging	0.87
IGL02449:Trpa1	APN	1	14898157	missense	probably damaging	1.00
IGL02936:Trpa1	APN	1	14875969	splice site	probably null
fear-2	UTSW	1	14891303	critical splice donor site	probably null
petrified	UTSW	1	14884116	missense	probably damaging	1.00
R0008:Trpa1	UTSW	1	14903215	missense	possibly damaging	0.53
R0008:Trpa1	UTSW	1	14903215	missense	possibly damaging	0.53
R0317:Trpa1	UTSW	1	14881632	missense	probably benign	0.03
R0454:Trpa1	UTSW	1	14885748	critical splice donor site	probably null
R0828:Trpa1	UTSW	1	14875884	missense	probably damaging	1.00
R0944:Trpa1	UTSW	1	14912361	splice site	probably null
R0962:Trpa1	UTSW	1	14898163	missense	possibly damaging	0.61
R1025:Trpa1	UTSW	1	14904183	missense	probably benign	0.01
R1035:Trpa1	UTSW	1	14891303	critical splice donor site	probably null
R1134:Trpa1	UTSW	1	14881748	missense	possibly damaging	0.95
R1278:Trpa1	UTSW	1	14918723	critical splice donor site	probably null
R1617:Trpa1	UTSW	1	14873675	missense	probably damaging	1.00
R1800:Trpa1	UTSW	1	14874424	missense	probably benign	0.04
R1856:Trpa1	UTSW	1	14899388	nonsense	probably null
R1886:Trpa1	UTSW	1	14889425	missense	probably benign	0.00
R2004:Trpa1	UTSW	1	14905983	missense	possibly damaging	0.83
R2152:Trpa1	UTSW	1	14899401	missense	probably damaging	1.00
R2172:Trpa1	UTSW	1	14881656	missense	probably benign	0.01
R2198:Trpa1	UTSW	1	14910746	missense	probably benign
R2221:Trpa1	UTSW	1	14903256	missense	probably null	0.12
R2223:Trpa1	UTSW	1	14903256	missense	probably null	0.12
R2307:Trpa1	UTSW	1	14912381	missense	probably benign	0.00
R2338:Trpa1	UTSW	1	14884245	missense	probably damaging	0.97
R2698:Trpa1	UTSW	1	14905998	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2873:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2874:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R3418:Trpa1	UTSW	1	14874381	missense	probably benign	0.01
R3419:Trpa1	UTSW	1	14874381	missense	probably benign	0.01
R3796:Trpa1	UTSW	1	14893264	missense	possibly damaging	0.74
R3799:Trpa1	UTSW	1	14893264	missense	possibly damaging	0.74
R4238:Trpa1	UTSW	1	14884116	missense	probably damaging	1.00
R4320:Trpa1	UTSW	1	14874452	missense	probably benign	0.00
R4591:Trpa1	UTSW	1	14882108	splice site	probably null
R4834:Trpa1	UTSW	1	14896523	missense	possibly damaging	0.72
R4991:Trpa1	UTSW	1	14910746	missense	probably benign	0.00
R4999:Trpa1	UTSW	1	14875861	missense	probably benign	0.05
R5038:Trpa1	UTSW	1	14910866	missense	probably damaging	1.00
R5055:Trpa1	UTSW	1	14875959	missense	probably damaging	1.00
R5158:Trpa1	UTSW	1	14881661	missense	probably benign	0.01
R5193:Trpa1	UTSW	1	14875917	missense	possibly damaging	0.92
R5558:Trpa1	UTSW	1	14898268	missense	probably damaging	1.00
R5578:Trpa1	UTSW	1	14887008	missense	probably damaging	1.00
R5680:Trpa1	UTSW	1	14875854	missense	probably benign	0.00
R5738:Trpa1	UTSW	1	14875950	missense	probably damaging	1.00
R5801:Trpa1	UTSW	1	14898078	missense	probably damaging	1.00
R5945:Trpa1	UTSW	1	14898135	missense	probably benign	0.03
R6092:Trpa1	UTSW	1	14889486	missense	probably damaging	1.00
R6776:Trpa1	UTSW	1	14912377	missense	probably benign
R7126:Trpa1	UTSW	1	14890424	missense	probably benign	0.00
R7154:Trpa1	UTSW	1	14882233	missense	possibly damaging	0.46
R7175:Trpa1	UTSW	1	14893207	missense	possibly damaging	0.90
R7258:Trpa1	UTSW	1	14903249	missense	probably damaging	1.00
R7358:Trpa1	UTSW	1	14898110	missense	probably damaging	1.00
R7412:Trpa1	UTSW	1	14884198	missense	probably benign	0.43
R7639:Trpa1	UTSW	1	14886913	missense	probably benign	0.00
R7740:Trpa1	UTSW	1	14912401	missense	possibly damaging	0.72
R7815:Trpa1	UTSW	1	14904262	missense	probably benign	0.01
R7854:Trpa1	UTSW	1	14881694	missense	probably benign	0.00
R8112:Trpa1	UTSW	1	14904266	missense	probably benign
R8217:Trpa1	UTSW	1	14887023	missense	probably damaging	0.97
R8711:Trpa1	UTSW	1	14910774	missense	probably damaging	1.00
R8834:Trpa1	UTSW	1	14893304	missense	possibly damaging	0.60
R8907:Trpa1	UTSW	1	14889440	missense	probably benign	0.00
R8907:Trpa1	UTSW	1	14893339	missense	probably damaging	1.00
R9058:Trpa1	UTSW	1	14889394	missense	probably damaging	1.00
R9135:Trpa1	UTSW	1	14882211	missense	probably damaging	1.00
R9261:Trpa1	UTSW	1	14893241	missense	probably damaging	1.00
R9266:Trpa1	UTSW	1	14910729	critical splice donor site	probably null
R9287:Trpa1	UTSW	1	14885816	nonsense	probably null
R9323:Trpa1	UTSW	1	14898340	missense	probably benign	0.01
R9379:Trpa1	UTSW	1	14896515	missense	possibly damaging	0.64
R9497:Trpa1	UTSW	1	14918802	missense	probably benign	0.02
R9616:Trpa1	UTSW	1	14918853	start gained	probably benign
R9666:Trpa1	UTSW	1	14903231	missense	possibly damaging	0.67
X0028:Trpa1	UTSW	1	14890420	missense	probably benign	0.16
Z1176:Trpa1	UTSW	1	14881692	missense	probably damaging	1.00
Z1176:Trpa1	UTSW	1	14891306	missense	possibly damaging	0.80
Z1176:Trpa1	UTSW	1	14898350	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCAACTAGGCAGGGATCTTACCA -3'
(R):5'- GCTCACTTTGCATTGTTTGACCATACA -3'

Sequencing Primer
(F):5'- GGCAGGGATCTTACCAAAAATTATG -3'
(R):5'- CTAAAAGAGATGGGTGTTTCCATGAC -3'

Posted On

2014-04-13