Incidental Mutation 'R2221:Trpa1'
ID 241464
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 040223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2221 (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 14973480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 279 (F279L)
Ref Sequence ENSEMBL: ENSMUSP00000043594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041447]
AlphaFold Q8BLA8
Predicted Effect probably null
Transcript: ENSMUST00000041447
AA Change: F279L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: F279L

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 0.1111 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A C 4: 86,306,762 (GRCm39) D1392A probably benign Het
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Bicd1 A G 6: 149,418,503 (GRCm39) T725A probably damaging Het
Cd1d2 A T 3: 86,895,847 (GRCm39) I292F probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,120 (GRCm39) V495A probably damaging Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Ctu2 A G 8: 123,207,649 (GRCm39) E375G probably damaging Het
Dym T G 18: 75,363,236 (GRCm39) I580S probably damaging Het
Eif3e A G 15: 43,114,943 (GRCm39) L411P possibly damaging Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Enkur A G 2: 21,194,130 (GRCm39) probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Frem2 G A 3: 53,424,278 (GRCm39) A3053V probably benign Het
Gbgt1 T C 2: 28,388,435 (GRCm39) L40P probably damaging Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gys2 G T 6: 142,402,148 (GRCm39) D230E probably damaging Het
Herc2 T A 7: 55,818,766 (GRCm39) probably null Het
Hps3 A T 3: 20,056,527 (GRCm39) S815R probably benign Het
Igf1r C A 7: 67,851,710 (GRCm39) S983R probably damaging Het
Itsn1 T A 16: 91,650,656 (GRCm39) probably benign Het
Kcnc2 A G 10: 112,292,431 (GRCm39) N91D probably damaging Het
Kif28 C A 1: 179,560,676 (GRCm39) A210S possibly damaging Het
Klri2 T A 6: 129,717,272 (GRCm39) Q37L probably damaging Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm39) F5135L probably benign Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mst1r T C 9: 107,785,547 (GRCm39) F402L probably damaging Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Nup188 T C 2: 30,226,936 (GRCm39) probably benign Het
Or4a71 C T 2: 89,358,281 (GRCm39) V158I probably benign Het
Or8b12i T C 9: 20,082,388 (GRCm39) S160G possibly damaging Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Prl2a1 T A 13: 27,990,369 (GRCm39) probably null Het
Serpina9 T A 12: 103,964,523 (GRCm39) I305F probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc19a1 C T 10: 76,878,320 (GRCm39) T285I probably benign Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Srgap3 A G 6: 112,923,454 (GRCm39) S2P probably damaging Het
Tcof1 A G 18: 60,970,973 (GRCm39) V210A possibly damaging Het
Tex261 A G 6: 83,748,497 (GRCm39) I136T probably benign Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ttn T C 2: 76,572,438 (GRCm39) T26152A probably damaging Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn1r64 T C 7: 5,887,448 (GRCm39) I32V probably benign Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Vps13b G A 15: 35,884,743 (GRCm39) V3139I probably benign Het
Zfp628 T C 7: 4,923,830 (GRCm39) V684A probably benign 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
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'- AGAAGTATGATTCAACCATACAGCC -3'
(R):5'- CCTCCTTGAGCAAAGAATAGAATTC -3'

Sequencing Primer
(F):5'- GTATGATTCAACCATACAGCCTTTAC -3'
(R):5'- CTAAGGGCACTCGGGTTGCTAG -3'
Posted On 2014-10-15