Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Trpa1'

706293

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

Accession Numbers

Essential gene?

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

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14942872-14989086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14968564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 428 (V428A)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably benign
Transcript: ENSMUST00000041447
AA Change: V428A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: V428A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	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
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
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'- TGCGCCCATAACTTGAAAAGG -3'
(R):5'- GAGACCTCATCCCTATGGGTTTTC -3'

Sequencing Primer
(F):5'- CGCCCATAACTTGAAAAGGTCAGG -3'
(R):5'- GTCTGCACTAGATTGGAAAATGC -3'

Posted On

2022-04-18