Incidental Mutation 'R7154:Trpa1'
| ID |
557119 |
| 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 |
045256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
14942872-14989086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14952457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 858
(N858I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041447]
|
| AlphaFold |
Q8BLA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041447
AA Change: N858I
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: N858I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Adgre1 |
G |
A |
17: 57,751,087 (GRCm39) |
|
probably null |
Het |
| Agap2 |
A |
G |
10: 126,927,524 (GRCm39) |
D1135G |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,052,946 (GRCm39) |
L45P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,220,905 (GRCm39) |
W71R |
probably damaging |
Het |
| Asic3 |
G |
A |
5: 24,618,660 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,630,930 (GRCm39) |
N139K |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,098 (GRCm39) |
C127S |
probably benign |
Het |
| Auts2 |
A |
T |
5: 131,480,731 (GRCm39) |
S255T |
|
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Cacnb1 |
A |
G |
11: 97,895,959 (GRCm39) |
L443P |
probably damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 123,364,883 (GRCm39) |
Q300* |
probably null |
Het |
| Ccer1 |
A |
T |
10: 97,530,201 (GRCm39) |
D288V |
unknown |
Het |
| Col18a1 |
G |
A |
10: 76,908,799 (GRCm39) |
P611S |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,407,694 (GRCm39) |
D281V |
possibly damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,050 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,431,963 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,966 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
T |
C |
19: 40,713,430 (GRCm39) |
Y188H |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,863,843 (GRCm39) |
D111G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,232,484 (GRCm39) |
D2064G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,160 (GRCm39) |
V2614G |
probably damaging |
Het |
| Fos |
A |
T |
12: 85,520,931 (GRCm39) |
M40L |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,283,707 (GRCm39) |
E434V |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,591,345 (GRCm39) |
D586E |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,615,075 (GRCm39) |
K474R |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,122 (GRCm39) |
F314I |
probably damaging |
Het |
| Gm14393 |
T |
G |
2: 174,903,576 (GRCm39) |
K110N |
probably damaging |
Het |
| Gm4131 |
C |
A |
14: 62,718,382 (GRCm39) |
A75S |
probably damaging |
Het |
| Heatr6 |
G |
A |
11: 83,668,067 (GRCm39) |
V854I |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,076,806 (GRCm39) |
M545K |
possibly damaging |
Het |
| Ift70b |
C |
T |
2: 75,768,405 (GRCm39) |
R116H |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,922,861 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,032,527 (GRCm39) |
|
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,084 (GRCm39) |
K88E |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,393,682 (GRCm39) |
V581G |
probably benign |
Het |
| Mex3d |
A |
T |
10: 80,222,584 (GRCm39) |
V224E |
|
Het |
| Mtx2 |
T |
A |
2: 74,706,762 (GRCm39) |
C246S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,468 (GRCm39) |
|
probably null |
Het |
| Myh6 |
A |
G |
14: 55,197,764 (GRCm39) |
I458T |
probably benign |
Het |
| Ndufs6 |
A |
G |
13: 73,468,411 (GRCm39) |
V96A |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,363,515 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,349,950 (GRCm39) |
S2397G |
probably benign |
Het |
| Or4c15b |
A |
G |
2: 89,113,204 (GRCm39) |
I91T |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,741,997 (GRCm39) |
I289V |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,901,649 (GRCm39) |
E619G |
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,837,289 (GRCm39) |
R95G |
probably benign |
Het |
| Plat |
T |
A |
8: 23,268,521 (GRCm39) |
I391K |
possibly damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,862,314 (GRCm39) |
H244R |
probably damaging |
Het |
| Rapgef3 |
G |
C |
15: 97,651,758 (GRCm39) |
H578Q |
probably benign |
Het |
| Rnf145 |
C |
A |
11: 44,415,822 (GRCm39) |
N12K |
probably damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,309,405 (GRCm39) |
C100Y |
unknown |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,748 (GRCm39) |
L581Q |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,078 (GRCm39) |
K887E |
probably benign |
Het |
| Spopfm2 |
A |
G |
3: 94,083,526 (GRCm39) |
I95T |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,531,795 (GRCm39) |
T2684N |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,535,023 (GRCm39) |
Q3760P |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,921,056 (GRCm39) |
E87G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,106,231 (GRCm39) |
Q792R |
possibly damaging |
Het |
| Taf7 |
T |
C |
18: 37,775,601 (GRCm39) |
D322G |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,156 (GRCm39) |
S112G |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,810,093 (GRCm39) |
M5V |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,339,328 (GRCm39) |
I215N |
possibly damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,916 (GRCm39) |
Q43* |
probably null |
Het |
| Ttll5 |
A |
G |
12: 85,972,538 (GRCm39) |
D767G |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,732 (GRCm39) |
T62I |
probably benign |
Het |
| Wdr59 |
A |
T |
8: 112,185,367 (GRCm39) |
N874K |
|
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 |
|
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'- TCACACATGCAGCTCCTGAG -3'
(R):5'- ACACAGAGAGACCTTGTCTTAAAAC -3'
Sequencing Primer
(F):5'- CTCCTGAGGTGCAGTCATGAG -3'
(R):5'- ACCTTGTCTTAAAACAGAAGGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation