Mutagenetix > Incidental Mutation

Incidental Mutation 'R5158:Trpa1'

396807

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

042740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5158 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14942872-14989086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14951885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 938 (V938A)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably benign
Transcript: ENSMUST00000041447
AA Change: V938A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: V938A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,825,755 (GRCm39)	T357I	probably benign	Het
Abca14	A	T	7: 119,852,652 (GRCm39)	R872S	probably benign	Het
Adnp2	A	G	18: 80,180,758 (GRCm39)	Y47H	probably damaging	Het
Atp6v0d2	T	C	4: 19,878,292 (GRCm39)	N327S	probably damaging	Het
Ccdc190	A	G	1: 169,760,578 (GRCm39)	R69G	probably benign	Het
Cfap54	T	C	10: 92,901,059 (GRCm39)	D213G	probably damaging	Het
Clcn4	G	A	7: 7,294,618 (GRCm39)	T381I	possibly damaging	Het
Cobl	A	G	11: 12,206,198 (GRCm39)	F477S	possibly damaging	Het
Ctdspl2	T	A	2: 121,811,774 (GRCm39)	V205E	probably benign	Het
Dhx37	A	T	5: 125,492,216 (GRCm39)	Y1128N	probably damaging	Het
Ehmt2	G	A	17: 35,130,640 (GRCm39)	E1085K	probably damaging	Het
Fam149a	T	G	8: 45,803,472 (GRCm39)	I340L	possibly damaging	Het
Fut9	T	A	4: 25,620,731 (GRCm39)	I28F	probably benign	Het
Il36g	T	A	2: 24,082,798 (GRCm39)	I191K	probably damaging	Het
Iqgap1	T	C	7: 80,392,816 (GRCm39)	N716D	probably benign	Het
Itgb7	T	C	15: 102,125,464 (GRCm39)	D672G	probably benign	Het
Kat6b	A	G	14: 21,720,054 (GRCm39)	M1469V	possibly damaging	Het
Kif3a	T	C	11: 53,479,578 (GRCm39)	F430L	probably benign	Het
L3mbtl3	T	C	10: 26,179,586 (GRCm39)	D523G	unknown	Het
Mcf2l	A	G	8: 13,059,715 (GRCm39)	Q736R	probably damaging	Het
Mpl	T	G	4: 118,313,881 (GRCm39)	D128A	probably damaging	Het
Myom3	T	A	4: 135,492,897 (GRCm39)	C149S	probably damaging	Het
N4bp2	A	G	5: 65,965,805 (GRCm39)	I1285V	probably damaging	Het
Nalcn	T	C	14: 123,753,149 (GRCm39)	Q279R	probably damaging	Het
Ndc1	T	G	4: 107,232,362 (GRCm39)	S182R	probably damaging	Het
Ngf	A	T	3: 102,427,445 (GRCm39)	M65L	possibly damaging	Het
Or2n1	T	A	17: 38,486,345 (GRCm39)	Y123*	probably null	Het
Pigb	T	C	9: 72,929,683 (GRCm39)	Y300C	probably damaging	Het
Pla2g2a	T	G	4: 138,560,595 (GRCm39)	*69G	probably null	Het
Ppp1r12b	T	C	1: 134,814,166 (GRCm39)	E379G	probably damaging	Het
Ptdss2	T	C	7: 140,731,684 (GRCm39)	F164S	probably benign	Het
Ptprc	T	C	1: 138,102,822 (GRCm39)	T2A	possibly damaging	Het
Ptprq	T	A	10: 107,370,565 (GRCm39)	N2042I	probably damaging	Het
Rdh10	A	T	1: 16,178,221 (GRCm39)	R164S	probably damaging	Het
Sec31a	A	T	5: 100,541,180 (GRCm39)	I309N	probably damaging	Het
Skint5	A	T	4: 113,599,409 (GRCm39)	I710N	unknown	Het
Slc25a30	A	T	14: 76,008,956 (GRCm39)	L26Q	probably damaging	Het
Sptan1	G	A	2: 29,868,455 (GRCm39)	V34I	probably damaging	Het
Sult1e1	A	T	5: 87,735,453 (GRCm39)	I75N	probably damaging	Het
Vps16	C	T	2: 130,283,199 (GRCm39)	R531C	probably damaging	Het
Zbtb22	C	T	17: 34,137,423 (GRCm39)	H523Y	probably damaging	Het
Zfp39	G	A	11: 58,780,671 (GRCm39)	T697M	possibly damaging	Het

Other mutations in Trpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Trpa1	APN	1	14,961,557 (GRCm39)	missense	probably damaging	0.97
IGL00937:Trpa1	APN	1	14,950,501 (GRCm39)	splice site	probably benign
IGL00957:Trpa1	APN	1	14,951,892 (GRCm39)	missense	probably damaging	0.99
IGL01307:Trpa1	APN	1	14,966,771 (GRCm39)	missense	probably benign	0.23
IGL01336:Trpa1	APN	1	14,957,104 (GRCm39)	splice site	probably benign
IGL01408:Trpa1	APN	1	14,959,637 (GRCm39)	missense	probably benign	0.03
IGL01504:Trpa1	APN	1	14,952,443 (GRCm39)	missense	possibly damaging	0.79
IGL01543:Trpa1	APN	1	14,970,300 (GRCm39)	missense	probably damaging	1.00
IGL01609:Trpa1	APN	1	14,982,607 (GRCm39)	missense	probably damaging	0.99
IGL01895:Trpa1	APN	1	14,957,867 (GRCm39)	missense	possibly damaging	0.87
IGL02449:Trpa1	APN	1	14,968,381 (GRCm39)	missense	probably damaging	1.00
IGL02936:Trpa1	APN	1	14,946,193 (GRCm39)	splice site	probably null
fear-2	UTSW	1	14,961,527 (GRCm39)	critical splice donor site	probably null
petrified	UTSW	1	14,954,340 (GRCm39)	missense	probably damaging	1.00
R0008:Trpa1	UTSW	1	14,973,439 (GRCm39)	missense	possibly damaging	0.53
R0008:Trpa1	UTSW	1	14,973,439 (GRCm39)	missense	possibly damaging	0.53
R0317:Trpa1	UTSW	1	14,951,856 (GRCm39)	missense	probably benign	0.03
R0454:Trpa1	UTSW	1	14,955,972 (GRCm39)	critical splice donor site	probably null
R0828:Trpa1	UTSW	1	14,946,108 (GRCm39)	missense	probably damaging	1.00
R0944:Trpa1	UTSW	1	14,982,585 (GRCm39)	splice site	probably null
R0962:Trpa1	UTSW	1	14,968,387 (GRCm39)	missense	possibly damaging	0.61
R1025:Trpa1	UTSW	1	14,974,407 (GRCm39)	missense	probably benign	0.01
R1035:Trpa1	UTSW	1	14,961,527 (GRCm39)	critical splice donor site	probably null
R1134:Trpa1	UTSW	1	14,951,972 (GRCm39)	missense	possibly damaging	0.95
R1278:Trpa1	UTSW	1	14,988,947 (GRCm39)	critical splice donor site	probably null
R1497:Trpa1	UTSW	1	14,956,036 (GRCm39)	missense	probably benign	0.30
R1617:Trpa1	UTSW	1	14,943,899 (GRCm39)	missense	probably damaging	1.00
R1800:Trpa1	UTSW	1	14,944,648 (GRCm39)	missense	probably benign	0.04
R1856:Trpa1	UTSW	1	14,969,612 (GRCm39)	nonsense	probably null
R1886:Trpa1	UTSW	1	14,959,649 (GRCm39)	missense	probably benign	0.00
R2004:Trpa1	UTSW	1	14,976,207 (GRCm39)	missense	possibly damaging	0.83
R2152:Trpa1	UTSW	1	14,969,625 (GRCm39)	missense	probably damaging	1.00
R2172:Trpa1	UTSW	1	14,951,880 (GRCm39)	missense	probably benign	0.01
R2198:Trpa1	UTSW	1	14,980,970 (GRCm39)	missense	probably benign
R2221:Trpa1	UTSW	1	14,973,480 (GRCm39)	missense	probably null	0.12
R2223:Trpa1	UTSW	1	14,973,480 (GRCm39)	missense	probably null	0.12
R2307:Trpa1	UTSW	1	14,982,605 (GRCm39)	missense	probably benign	0.00
R2338:Trpa1	UTSW	1	14,954,469 (GRCm39)	missense	probably damaging	0.97
R2698:Trpa1	UTSW	1	14,976,222 (GRCm39)	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14,957,844 (GRCm39)	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14,957,844 (GRCm39)	missense	probably damaging	1.00
R2873:Trpa1	UTSW	1	14,957,844 (GRCm39)	missense	probably damaging	1.00
R2874:Trpa1	UTSW	1	14,957,844 (GRCm39)	missense	probably damaging	1.00
R3418:Trpa1	UTSW	1	14,944,605 (GRCm39)	missense	probably benign	0.01
R3419:Trpa1	UTSW	1	14,944,605 (GRCm39)	missense	probably benign	0.01
R3796:Trpa1	UTSW	1	14,963,488 (GRCm39)	missense	possibly damaging	0.74
R3799:Trpa1	UTSW	1	14,963,488 (GRCm39)	missense	possibly damaging	0.74
R4238:Trpa1	UTSW	1	14,954,340 (GRCm39)	missense	probably damaging	1.00
R4320:Trpa1	UTSW	1	14,944,676 (GRCm39)	missense	probably benign	0.00
R4591:Trpa1	UTSW	1	14,952,332 (GRCm39)	splice site	probably null
R4834:Trpa1	UTSW	1	14,966,747 (GRCm39)	missense	possibly damaging	0.72
R4991:Trpa1	UTSW	1	14,980,970 (GRCm39)	missense	probably benign	0.00
R4999:Trpa1	UTSW	1	14,946,085 (GRCm39)	missense	probably benign	0.05
R5038:Trpa1	UTSW	1	14,981,090 (GRCm39)	missense	probably damaging	1.00
R5055:Trpa1	UTSW	1	14,946,183 (GRCm39)	missense	probably damaging	1.00
R5193:Trpa1	UTSW	1	14,946,141 (GRCm39)	missense	possibly damaging	0.92
R5558:Trpa1	UTSW	1	14,968,492 (GRCm39)	missense	probably damaging	1.00
R5578:Trpa1	UTSW	1	14,957,232 (GRCm39)	missense	probably damaging	1.00
R5680:Trpa1	UTSW	1	14,946,078 (GRCm39)	missense	probably benign	0.00
R5738:Trpa1	UTSW	1	14,946,174 (GRCm39)	missense	probably damaging	1.00
R5801:Trpa1	UTSW	1	14,968,302 (GRCm39)	missense	probably damaging	1.00
R5945:Trpa1	UTSW	1	14,968,359 (GRCm39)	missense	probably benign	0.03
R6092:Trpa1	UTSW	1	14,959,710 (GRCm39)	missense	probably damaging	1.00
R6776:Trpa1	UTSW	1	14,982,601 (GRCm39)	missense	probably benign
R7126:Trpa1	UTSW	1	14,960,648 (GRCm39)	missense	probably benign	0.00
R7154:Trpa1	UTSW	1	14,952,457 (GRCm39)	missense	possibly damaging	0.46
R7175:Trpa1	UTSW	1	14,963,431 (GRCm39)	missense	possibly damaging	0.90
R7258:Trpa1	UTSW	1	14,973,473 (GRCm39)	missense	probably damaging	1.00
R7358:Trpa1	UTSW	1	14,968,334 (GRCm39)	missense	probably damaging	1.00
R7412:Trpa1	UTSW	1	14,954,422 (GRCm39)	missense	probably benign	0.43
R7639:Trpa1	UTSW	1	14,957,137 (GRCm39)	missense	probably benign	0.00
R7740:Trpa1	UTSW	1	14,982,625 (GRCm39)	missense	possibly damaging	0.72
R7815:Trpa1	UTSW	1	14,974,486 (GRCm39)	missense	probably benign	0.01
R7854:Trpa1	UTSW	1	14,951,918 (GRCm39)	missense	probably benign	0.00
R8112:Trpa1	UTSW	1	14,974,490 (GRCm39)	missense	probably benign
R8217:Trpa1	UTSW	1	14,957,247 (GRCm39)	missense	probably damaging	0.97
R8711:Trpa1	UTSW	1	14,980,998 (GRCm39)	missense	probably damaging	1.00
R8834:Trpa1	UTSW	1	14,963,528 (GRCm39)	missense	possibly damaging	0.60
R8907:Trpa1	UTSW	1	14,963,563 (GRCm39)	missense	probably damaging	1.00
R8907:Trpa1	UTSW	1	14,959,664 (GRCm39)	missense	probably benign	0.00
R9058:Trpa1	UTSW	1	14,959,618 (GRCm39)	missense	probably damaging	1.00
R9135:Trpa1	UTSW	1	14,952,435 (GRCm39)	missense	probably damaging	1.00
R9261:Trpa1	UTSW	1	14,963,465 (GRCm39)	missense	probably damaging	1.00
R9266:Trpa1	UTSW	1	14,980,953 (GRCm39)	critical splice donor site	probably null
R9287:Trpa1	UTSW	1	14,956,040 (GRCm39)	nonsense	probably null
R9323:Trpa1	UTSW	1	14,968,564 (GRCm39)	missense	probably benign	0.01
R9379:Trpa1	UTSW	1	14,966,739 (GRCm39)	missense	possibly damaging	0.64
R9497:Trpa1	UTSW	1	14,989,026 (GRCm39)	missense	probably benign	0.02
R9616:Trpa1	UTSW	1	14,989,077 (GRCm39)	start gained	probably benign
R9666:Trpa1	UTSW	1	14,973,455 (GRCm39)	missense	possibly damaging	0.67
X0028:Trpa1	UTSW	1	14,960,644 (GRCm39)	missense	probably benign	0.16
Z1176:Trpa1	UTSW	1	14,968,574 (GRCm39)	missense	probably damaging	1.00
Z1176:Trpa1	UTSW	1	14,961,530 (GRCm39)	missense	possibly damaging	0.80
Z1176:Trpa1	UTSW	1	14,951,916 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGAGATGTAGGCCAGTTAGAG -3'
(R):5'- TTTGACCACCAGGAAGTCCC -3'

Sequencing Primer
(F):5'- TGGATGCCATTCCTCTGGACAAG -3'
(R):5'- GACCACCAGGAAGTCCCTTTTTATG -3'

Posted On

2016-06-21