Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Trpa1'

251264

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

040436-MU

Accession Numbers

Essential gene?

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

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14942872-14989086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14976222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 160 (N160K)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041447
AA Change: N160K

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

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: N160K

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

0.1446

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	probably 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
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
R5158:Trpa1	UTSW	1	14,951,885 (GRCm39)	missense	probably benign	0.01
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'- GTATATCCATGTAAGTTCGTTCGACC -3'
(R):5'- AGAGTACTGACTGCCCTTTTG -3'

Sequencing Primer
(F):5'- ATGTAAGTTCGTTCGACCTATTTTC -3'
(R):5'- CAAAGTTGTACTAATTGTGAGCATG -3'

Posted On

2014-12-04