Mutagenetix > Incidental Mutation

Incidental Mutation 'R5578:Trpa1'

437280

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

043133-MU

Accession Numbers

Essential gene?

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

Stock #

R5578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14942872-14989086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14957232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 728 (Y728F)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041447
AA Change: Y728F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: Y728F

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: 99.9%
3x: 99.6%
10x: 98.2%
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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,926,932 (GRCm39)	S521P	probably benign	Het
Aqp11	A	G	7: 97,386,665 (GRCm39)	F177S	probably damaging	Het
Arhgap40	G	T	2: 158,373,126 (GRCm39)	G128V	probably damaging	Het
Aspm	A	T	1: 139,398,455 (GRCm39)	K1011I	probably damaging	Het
Cachd1	A	G	4: 100,722,203 (GRCm39)	T89A	probably benign	Het
Cep89	ACTCCTCCTCCTCCTCCTCCTCCTC	ACTCCTCCTCCTCCTCCTCCTC	7: 35,109,067 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,758,806 (GRCm39)	C81*	probably null	Het
Chd7	A	G	4: 8,847,149 (GRCm39)	T1631A	probably benign	Het
Clca4b	T	A	3: 144,638,196 (GRCm39)	D22V	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp39a1	T	A	17: 43,991,031 (GRCm39)	N113K	possibly damaging	Het
Dnah11	A	T	12: 117,982,537 (GRCm39)	V2544D	probably damaging	Het
Dnai3	A	T	3: 145,802,983 (GRCm39)	Y69*	probably null	Het
Esr1	A	C	10: 4,919,164 (GRCm39)	Q418P	probably damaging	Het
Fam89a	T	A	8: 125,467,968 (GRCm39)	K115*	probably null	Het
Fstl4	T	A	11: 53,056,608 (GRCm39)	V455D	probably damaging	Het
Gm20730	T	A	6: 43,058,474 (GRCm39)	M113L	probably benign	Het
H2ac21	T	C	3: 96,127,554 (GRCm39)	V108A	probably damaging	Het
Hk3	C	T	13: 55,159,994 (GRCm39)	V327M	probably damaging	Het
Itm2c	T	A	1: 85,830,774 (GRCm39)	V57E	possibly damaging	Het
Lrba	T	C	3: 86,664,814 (GRCm39)	Y565H	probably benign	Het
Mab21l1	C	T	3: 55,691,435 (GRCm39)	Q341*	probably null	Het
Mdm2	C	T	10: 117,538,192 (GRCm39)	E69K	possibly damaging	Het
Mdn1	A	T	4: 32,728,167 (GRCm39)	I2709F	probably benign	Het
Mpp7	T	C	18: 7,355,101 (GRCm39)	N442D	probably benign	Het
Ncoa3	A	G	2: 165,896,248 (GRCm39)	I384V	probably benign	Het
Pm20d1	A	G	1: 131,743,760 (GRCm39)	N475S	probably benign	Het
Rhpn2	A	G	7: 35,070,135 (GRCm39)	D131G	probably damaging	Het
S1pr5	T	A	9: 21,155,847 (GRCm39)	Y193F	probably damaging	Het
Sdk1	A	T	5: 141,598,880 (GRCm39)	K182*	probably null	Het
Slx4	T	A	16: 3,804,726 (GRCm39)	E696V	probably damaging	Het
Smyd4	C	T	11: 75,295,602 (GRCm39)	P753S	probably benign	Het
Stambp	T	G	6: 83,538,782 (GRCm39)	D206A	probably benign	Het
Sult5a1	G	T	8: 123,869,860 (GRCm39)	Y262*	probably null	Het
Taar1	A	T	10: 23,796,718 (GRCm39)	I139F	possibly damaging	Het
Tchh	A	T	3: 93,351,618 (GRCm39)	R353*	probably null	Het
Thnsl2	C	T	6: 71,115,749 (GRCm39)	V153I	probably benign	Het
Trmt5	C	T	12: 73,331,837 (GRCm39)		probably null	Het
Usp19	T	C	9: 108,370,639 (GRCm39)	V126A	probably benign	Het
Vcan	A	G	13: 89,839,622 (GRCm39)	V1974A	probably benign	Het
Vmn2r120	T	A	17: 57,829,514 (GRCm39)	H461L	probably benign	Het
Zfp445	T	C	9: 122,682,402 (GRCm39)	Y513C	probably benign	Het
Zfp84	A	C	7: 29,474,856 (GRCm39)	M43L	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
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
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'- TCTCATCCCAAGGCAGATTTTAG -3'
(R):5'- GACGGTGAATTACAAGAACTTTGG -3'

Sequencing Primer
(F):5'- TCCCAAGGCAGATTTTAGAAGAAATG -3'
(R):5'- GTTGCTACTTTTCCATAGATGT -3'

Posted On

2016-10-26