Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Trpa1'

238468

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

040200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14872648-14918862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14910746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 144 (Y144F)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably benign
Transcript: ENSMUST00000041447
AA Change: Y144F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: Y144F

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,637,936 (GRCm38)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,577,465 (GRCm38)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,350,184 (GRCm38)	K251R	probably benign	Het
Ank2	T	C	3: 126,934,577 (GRCm38)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,545,769 (GRCm38)		probably null	Het
Cacna2d4	T	C	6: 119,347,259 (GRCm38)		probably benign	Het
Carf	G	A	1: 60,141,484 (GRCm38)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,947,322 (GRCm38)		probably null	Het
Celf6	G	T	9: 59,603,339 (GRCm38)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,332,593 (GRCm38)	I475N	probably benign	Het
Chdh	T	A	14: 30,031,532 (GRCm38)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,079,941 (GRCm38)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 65,002,745 (GRCm38)	T867K	probably benign	Het
Ctse	T	G	1: 131,672,447 (GRCm38)	Y311*	probably null	Het
Ddx60	T	A	8: 61,958,063 (GRCm38)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,859,499 (GRCm38)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,461,442 (GRCm38)	S543P	probably benign	Het
Dspp	A	T	5: 104,175,701 (GRCm38)	T237S	probably benign	Het
Eml6	T	G	11: 29,850,935 (GRCm38)	H357P	probably benign	Het
Epha3	T	C	16: 63,844,144 (GRCm38)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,646,687 (GRCm38)	T155I	probably damaging	Het
Erh	T	C	12: 80,642,785 (GRCm38)		probably benign	Het
F5	A	T	1: 164,207,034 (GRCm38)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,529,545 (GRCm38)	E269G	probably benign	Het
Gm4884	A	G	7: 41,040,805 (GRCm38)	T42A	probably benign	Het
Grm1	T	G	10: 10,782,776 (GRCm38)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,822,401 (GRCm38)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 106,083,551 (GRCm38)	M166L	probably benign	Het
Ldlr	A	G	9: 21,732,402 (GRCm38)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,265,741 (GRCm38)		probably null	Het
Naip2	A	T	13: 100,152,592 (GRCm38)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,329,400 (GRCm38)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,433,761 (GRCm38)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,461,016 (GRCm38)	M1T	probably null	Het
Or2y16	C	T	11: 49,443,959 (GRCm38)	S36F	probably benign	Het
Or6c88	T	A	10: 129,571,046 (GRCm38)	Y130*	probably null	Het
Or8g18	G	A	9: 39,237,752 (GRCm38)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,847,655 (GRCm38)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,483,360 (GRCm38)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm38)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,639,346 (GRCm38)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,763,263 (GRCm38)		probably benign	Het
Slc8a1	T	A	17: 81,408,256 (GRCm38)	K783*	probably null	Het
Sobp	A	C	10: 43,022,524 (GRCm38)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,763,271 (GRCm38)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,590,313 (GRCm38)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,887,459 (GRCm38)	P251L	probably damaging	Het
Tnks	C	T	8: 34,873,067 (GRCm38)	D466N	probably benign	Het
Tnks	A	T	8: 34,848,649 (GRCm38)	D994E	probably benign	Het
Tonsl	A	G	15: 76,636,672 (GRCm38)	F394L	probably benign	Het
Usp22	A	G	11: 61,159,337 (GRCm38)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 12,152,560 (GRCm38)	V33F	probably benign	Het
Wdr81	C	T	11: 75,446,081 (GRCm38)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,527,272 (GRCm38)		noncoding transcript	Het
Zc3h14	G	A	12: 98,752,809 (GRCm38)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,752,810 (GRCm38)	V145M	possibly damaging	Het
Zfp82	T	C	7: 30,057,511 (GRCm38)	T49A	probably benign	Het

Other mutations in Trpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Trpa1	APN	1	14,891,333 (GRCm38)	missense	probably damaging	0.97
IGL00937:Trpa1	APN	1	14,880,277 (GRCm38)	splice site	probably benign
IGL00957:Trpa1	APN	1	14,881,668 (GRCm38)	missense	probably damaging	0.99
IGL01307:Trpa1	APN	1	14,896,547 (GRCm38)	missense	probably benign	0.23
IGL01336:Trpa1	APN	1	14,886,880 (GRCm38)	splice site	probably benign
IGL01408:Trpa1	APN	1	14,889,413 (GRCm38)	missense	probably benign	0.03
IGL01504:Trpa1	APN	1	14,882,219 (GRCm38)	missense	possibly damaging	0.79
IGL01543:Trpa1	APN	1	14,900,076 (GRCm38)	missense	probably damaging	1.00
IGL01609:Trpa1	APN	1	14,912,383 (GRCm38)	missense	probably damaging	0.99
IGL01895:Trpa1	APN	1	14,887,643 (GRCm38)	missense	possibly damaging	0.87
IGL02449:Trpa1	APN	1	14,898,157 (GRCm38)	missense	probably damaging	1.00
IGL02936:Trpa1	APN	1	14,875,969 (GRCm38)	splice site	probably null
fear-2	UTSW	1	14,891,303 (GRCm38)	critical splice donor site	probably null
petrified	UTSW	1	14,884,116 (GRCm38)	missense	probably damaging	1.00
R0008:Trpa1	UTSW	1	14,903,215 (GRCm38)	missense	possibly damaging	0.53
R0008:Trpa1	UTSW	1	14,903,215 (GRCm38)	missense	possibly damaging	0.53
R0317:Trpa1	UTSW	1	14,881,632 (GRCm38)	missense	probably benign	0.03
R0454:Trpa1	UTSW	1	14,885,748 (GRCm38)	critical splice donor site	probably null
R0828:Trpa1	UTSW	1	14,875,884 (GRCm38)	missense	probably damaging	1.00
R0944:Trpa1	UTSW	1	14,912,361 (GRCm38)	splice site	probably null
R0962:Trpa1	UTSW	1	14,898,163 (GRCm38)	missense	possibly damaging	0.61
R1025:Trpa1	UTSW	1	14,904,183 (GRCm38)	missense	probably benign	0.01
R1035:Trpa1	UTSW	1	14,891,303 (GRCm38)	critical splice donor site	probably null
R1134:Trpa1	UTSW	1	14,881,748 (GRCm38)	missense	possibly damaging	0.95
R1278:Trpa1	UTSW	1	14,918,723 (GRCm38)	critical splice donor site	probably null
R1497:Trpa1	UTSW	1	14,885,812 (GRCm38)	missense	probably benign	0.30
R1617:Trpa1	UTSW	1	14,873,675 (GRCm38)	missense	probably damaging	1.00
R1800:Trpa1	UTSW	1	14,874,424 (GRCm38)	missense	probably benign	0.04
R1856:Trpa1	UTSW	1	14,899,388 (GRCm38)	nonsense	probably null
R1886:Trpa1	UTSW	1	14,889,425 (GRCm38)	missense	probably benign	0.00
R2004:Trpa1	UTSW	1	14,905,983 (GRCm38)	missense	possibly damaging	0.83
R2152:Trpa1	UTSW	1	14,899,401 (GRCm38)	missense	probably damaging	1.00
R2172:Trpa1	UTSW	1	14,881,656 (GRCm38)	missense	probably benign	0.01
R2221:Trpa1	UTSW	1	14,903,256 (GRCm38)	missense	probably null	0.12
R2223:Trpa1	UTSW	1	14,903,256 (GRCm38)	missense	probably null	0.12
R2307:Trpa1	UTSW	1	14,912,381 (GRCm38)	missense	probably benign	0.00
R2338:Trpa1	UTSW	1	14,884,245 (GRCm38)	missense	probably damaging	0.97
R2698:Trpa1	UTSW	1	14,905,998 (GRCm38)	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14,887,620 (GRCm38)	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14,887,620 (GRCm38)	missense	probably damaging	1.00
R2873:Trpa1	UTSW	1	14,887,620 (GRCm38)	missense	probably damaging	1.00
R2874:Trpa1	UTSW	1	14,887,620 (GRCm38)	missense	probably damaging	1.00
R3418:Trpa1	UTSW	1	14,874,381 (GRCm38)	missense	probably benign	0.01
R3419:Trpa1	UTSW	1	14,874,381 (GRCm38)	missense	probably benign	0.01
R3796:Trpa1	UTSW	1	14,893,264 (GRCm38)	missense	possibly damaging	0.74
R3799:Trpa1	UTSW	1	14,893,264 (GRCm38)	missense	possibly damaging	0.74
R4238:Trpa1	UTSW	1	14,884,116 (GRCm38)	missense	probably damaging	1.00
R4320:Trpa1	UTSW	1	14,874,452 (GRCm38)	missense	probably benign	0.00
R4591:Trpa1	UTSW	1	14,882,108 (GRCm38)	splice site	probably null
R4834:Trpa1	UTSW	1	14,896,523 (GRCm38)	missense	possibly damaging	0.72
R4991:Trpa1	UTSW	1	14,910,746 (GRCm38)	missense	probably benign	0.00
R4999:Trpa1	UTSW	1	14,875,861 (GRCm38)	missense	probably benign	0.05
R5038:Trpa1	UTSW	1	14,910,866 (GRCm38)	missense	probably damaging	1.00
R5055:Trpa1	UTSW	1	14,875,959 (GRCm38)	missense	probably damaging	1.00
R5158:Trpa1	UTSW	1	14,881,661 (GRCm38)	missense	probably benign	0.01
R5193:Trpa1	UTSW	1	14,875,917 (GRCm38)	missense	possibly damaging	0.92
R5558:Trpa1	UTSW	1	14,898,268 (GRCm38)	missense	probably damaging	1.00
R5578:Trpa1	UTSW	1	14,887,008 (GRCm38)	missense	probably damaging	1.00
R5680:Trpa1	UTSW	1	14,875,854 (GRCm38)	missense	probably benign	0.00
R5738:Trpa1	UTSW	1	14,875,950 (GRCm38)	missense	probably damaging	1.00
R5801:Trpa1	UTSW	1	14,898,078 (GRCm38)	missense	probably damaging	1.00
R5945:Trpa1	UTSW	1	14,898,135 (GRCm38)	missense	probably benign	0.03
R6092:Trpa1	UTSW	1	14,889,486 (GRCm38)	missense	probably damaging	1.00
R6776:Trpa1	UTSW	1	14,912,377 (GRCm38)	missense	probably benign
R7126:Trpa1	UTSW	1	14,890,424 (GRCm38)	missense	probably benign	0.00
R7154:Trpa1	UTSW	1	14,882,233 (GRCm38)	missense	possibly damaging	0.46
R7175:Trpa1	UTSW	1	14,893,207 (GRCm38)	missense	possibly damaging	0.90
R7258:Trpa1	UTSW	1	14,903,249 (GRCm38)	missense	probably damaging	1.00
R7358:Trpa1	UTSW	1	14,898,110 (GRCm38)	missense	probably damaging	1.00
R7412:Trpa1	UTSW	1	14,884,198 (GRCm38)	missense	probably benign	0.43
R7639:Trpa1	UTSW	1	14,886,913 (GRCm38)	missense	probably benign	0.00
R7740:Trpa1	UTSW	1	14,912,401 (GRCm38)	missense	possibly damaging	0.72
R7815:Trpa1	UTSW	1	14,904,262 (GRCm38)	missense	probably benign	0.01
R7854:Trpa1	UTSW	1	14,881,694 (GRCm38)	missense	probably benign	0.00
R8112:Trpa1	UTSW	1	14,904,266 (GRCm38)	missense	probably benign
R8217:Trpa1	UTSW	1	14,887,023 (GRCm38)	missense	probably damaging	0.97
R8711:Trpa1	UTSW	1	14,910,774 (GRCm38)	missense	probably damaging	1.00
R8834:Trpa1	UTSW	1	14,893,304 (GRCm38)	missense	possibly damaging	0.60
R8907:Trpa1	UTSW	1	14,893,339 (GRCm38)	missense	probably damaging	1.00
R8907:Trpa1	UTSW	1	14,889,440 (GRCm38)	missense	probably benign	0.00
R9058:Trpa1	UTSW	1	14,889,394 (GRCm38)	missense	probably damaging	1.00
R9135:Trpa1	UTSW	1	14,882,211 (GRCm38)	missense	probably damaging	1.00
R9261:Trpa1	UTSW	1	14,893,241 (GRCm38)	missense	probably damaging	1.00
R9266:Trpa1	UTSW	1	14,910,729 (GRCm38)	critical splice donor site	probably null
R9287:Trpa1	UTSW	1	14,885,816 (GRCm38)	nonsense	probably null
R9323:Trpa1	UTSW	1	14,898,340 (GRCm38)	missense	probably benign	0.01
R9379:Trpa1	UTSW	1	14,896,515 (GRCm38)	missense	possibly damaging	0.64
R9497:Trpa1	UTSW	1	14,918,802 (GRCm38)	missense	probably benign	0.02
R9616:Trpa1	UTSW	1	14,918,853 (GRCm38)	start gained	probably benign
R9666:Trpa1	UTSW	1	14,903,231 (GRCm38)	missense	possibly damaging	0.67
X0028:Trpa1	UTSW	1	14,890,420 (GRCm38)	missense	probably benign	0.16
Z1176:Trpa1	UTSW	1	14,898,350 (GRCm38)	missense	probably damaging	1.00
Z1176:Trpa1	UTSW	1	14,891,306 (GRCm38)	missense	possibly damaging	0.80
Z1176:Trpa1	UTSW	1	14,881,692 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCGTCATATCGTCACTACCAC -3'
(R):5'- AGCACTTGACTCCGAGGTTC -3'

Sequencing Primer
(F):5'- GTCACTACCACCACCATCATTTG -3'
(R):5'- AGTAAATCCCAAACAACATTTAATGC -3'

Posted On

2014-10-02