Mutagenetix > Incidental Mutation

Incidental Mutation 'R1278:Trpa1'

150937

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

039344-MU

Accession Numbers

Essential gene?

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

Stock #

R1278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14942872-14989086 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 14988947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

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

AlphaFold

Q8BLA8

Predicted Effect

probably null
Transcript: ENSMUST00000041447

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,535,470 (GRCm39)	S747P	probably damaging	Het
Adgb	A	G	10: 10,258,572 (GRCm39)	Y1063H	probably damaging	Het
Cacna1d	A	G	14: 29,900,660 (GRCm39)	S320P	probably damaging	Het
Ccdc171	C	T	4: 83,580,095 (GRCm39)	A622V	possibly damaging	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 50,026,292 (GRCm39)	V1800A	probably benign	Het
Dock5	T	C	14: 68,077,015 (GRCm39)	N276S	possibly damaging	Het
Fat2	T	C	11: 55,159,005 (GRCm39)	E3389G	probably damaging	Het
Gnb4	T	C	3: 32,641,886 (GRCm39)	D247G	probably damaging	Het
Kif20a	C	T	18: 34,759,830 (GRCm39)	T75I	probably benign	Het
Lcor	A	G	19: 41,573,122 (GRCm39)	T626A	probably benign	Het
Lix1	A	G	17: 17,647,469 (GRCm39)	K45R	probably benign	Het
Ly6g6d	T	A	17: 35,290,636 (GRCm39)	Q98L	probably benign	Het
Mark4	T	A	7: 19,165,695 (GRCm39)	S533C	probably damaging	Het
Myo1e	T	A	9: 70,306,067 (GRCm39)	V1104D	probably damaging	Het
Naip6	T	C	13: 100,436,870 (GRCm39)	D551G	probably damaging	Het
Or5k14	G	T	16: 58,693,340 (GRCm39)	P58T	probably damaging	Het
Pla2g4e	A	G	2: 119,998,951 (GRCm39)		probably null	Het
Ror1	T	C	4: 100,299,075 (GRCm39)	F816S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Secisbp2	G	T	13: 51,808,546 (GRCm39)	V104F	probably damaging	Het
Trpm7	A	T	2: 126,667,374 (GRCm39)	Y846*	probably null	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
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
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'- GGAACATCTTCTCTGGCACCAATCC -3'
(R):5'- GCTTAGTTGTAGGTCCCAAGTCCG -3'

Sequencing Primer
(F):5'- CCCCTGGCAAGATGGAGTTATG -3'
(R):5'- GTCCCAAGTCCGGCTGC -3'

Posted On

2014-01-29