Incidental Mutation 'R2338:Trpa1'
ID 246604
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 040324-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2338 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 14942872-14989086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14954469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 810 (L810Q)
Ref Sequence ENSEMBL: ENSMUSP00000043594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041447]
AlphaFold Q8BLA8
Predicted Effect probably damaging
Transcript: ENSMUST00000041447
AA Change: L810Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: L810Q

DomainStartEndE-ValueType
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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,817,109 (GRCm39) D53G probably benign Het
A1cf C T 19: 31,909,945 (GRCm39) P330S probably benign Het
Acta2 A G 19: 34,225,941 (GRCm39) probably benign Het
Actrt3 A G 3: 30,651,985 (GRCm39) *370R probably null Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Btbd8 T C 5: 107,658,440 (GRCm39) L1158S probably damaging Het
Cadps2 C G 6: 23,838,977 (GRCm39) probably benign Het
Camsap3 C T 8: 3,656,808 (GRCm39) R1048C probably damaging Het
Cdkl2 C T 5: 92,181,538 (GRCm39) A148T possibly damaging Het
Dab2 T A 15: 6,464,733 (GRCm39) I395K possibly damaging Het
Dclk2 A G 3: 86,706,324 (GRCm39) F589S probably damaging Het
Ddx60 T C 8: 62,465,470 (GRCm39) S1376P possibly damaging Het
Eprs1 T C 1: 185,148,005 (GRCm39) F1256L probably damaging Het
Etaa1 A T 11: 17,895,605 (GRCm39) probably null Het
Fat2 T C 11: 55,202,727 (GRCm39) T116A possibly damaging Het
Fem1al C A 11: 29,773,718 (GRCm39) A580S probably benign Het
Fmnl3 T C 15: 99,268,108 (GRCm39) T26A probably benign Het
Foxp1 A G 6: 98,980,254 (GRCm39) V158A possibly damaging Het
G6pd2 T A 5: 61,967,351 (GRCm39) D375E probably benign Het
Gne C T 4: 44,042,196 (GRCm39) A460T probably damaging Het
Gprin1 T A 13: 54,886,238 (GRCm39) probably null Het
Hecw2 T C 1: 53,943,581 (GRCm39) M949V possibly damaging Het
Herc1 G A 9: 66,336,251 (GRCm39) V1599M possibly damaging Het
Hk2 A C 6: 82,708,096 (GRCm39) N628K probably damaging Het
Hmcn1 T C 1: 150,498,685 (GRCm39) T4065A possibly damaging Het
Ipo8 T A 6: 148,691,321 (GRCm39) Q683L probably benign Het
Krt81 A G 15: 101,361,217 (GRCm39) I121T probably benign Het
Lamb2 T C 9: 108,359,340 (GRCm39) L322P probably benign Het
Lilrb4a A G 10: 51,367,796 (GRCm39) M113V probably benign Het
Mnat1 G A 12: 73,265,917 (GRCm39) probably null Het
Mucl1 T A 15: 103,783,964 (GRCm39) T68S possibly damaging Het
Npnt G T 3: 132,597,170 (GRCm39) D461E probably damaging Het
Nrp1 A T 8: 129,224,385 (GRCm39) Q716L probably benign Het
Or11g25 A G 14: 50,723,097 (GRCm39) T61A possibly damaging Het
Or12k5 T G 2: 36,895,159 (GRCm39) S156R probably damaging Het
Or51b6b A T 7: 103,309,617 (GRCm39) I280N possibly damaging Het
Podxl2 T C 6: 88,826,178 (GRCm39) Q376R probably damaging Het
Pudp T C 18: 50,701,646 (GRCm39) D29G probably benign Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
S1pr3 T C 13: 51,573,614 (GRCm39) I265T possibly damaging Het
Scgb1b2 A T 7: 30,991,038 (GRCm39) C23* probably null Het
Spag8 G T 4: 43,652,826 (GRCm39) R212S probably benign Het
Tacc2 A G 7: 130,335,299 (GRCm39) probably null Het
Trmt1l C T 1: 151,304,710 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ugt3a1 T A 15: 9,292,059 (GRCm39) probably benign Het
Vmn2r23 T G 6: 123,681,384 (GRCm39) I97M possibly damaging Het
Vmn2r65 A T 7: 84,590,051 (GRCm39) F622I possibly damaging Het
Vps13a C T 19: 16,697,817 (GRCm39) G766E probably damaging Het
Wnk1 T C 6: 119,946,495 (GRCm39) T553A probably benign Het
Xirp2 T A 2: 67,341,114 (GRCm39) D1118E probably damaging Het
Zfyve9 A C 4: 108,517,811 (GRCm39) D461E probably damaging Het
Other mutations in Trpa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAATTTCAGAGCCCTCTACCC -3'
(R):5'- CGTATATGGAAAACCAGCTAACCTG -3'

Sequencing Primer
(F):5'- TCTACCCTTCAGCATTACGATATTAG -3'
(R):5'- CCAGGTAGCATTTTACATTCC -3'
Posted On 2014-10-30