Incidental Mutation 'R2223:Trpa1'
ID 241590
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 040224-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2223 (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% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,889,296 (GRCm39) probably benign Het
Acvr1b C T 15: 101,100,924 (GRCm39) A362V probably benign Het
Adamts5 A C 16: 85,696,194 (GRCm39) L321R probably damaging Het
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
Atp8b1 T A 18: 64,697,428 (GRCm39) N472I possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Cntnap5b A G 1: 100,141,412 (GRCm39) E242G probably damaging 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
Cryz A T 3: 154,324,191 (GRCm39) N192I possibly damaging Het
Cyp2d11 T A 15: 82,274,332 (GRCm39) M350L probably benign Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Exoc3l4 C G 12: 111,392,586 (GRCm39) A471G possibly damaging Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fmo2 C T 1: 162,725,813 (GRCm39) C21Y probably damaging Het
Glul T A 1: 153,782,243 (GRCm39) probably null Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gtpbp2 A G 17: 46,478,153 (GRCm39) I434V probably benign Het
Kctd10 G T 5: 114,505,410 (GRCm39) R195S probably benign Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Luc7l2 T C 6: 38,542,659 (GRCm39) probably benign Het
Magi2 T A 5: 20,670,670 (GRCm39) V111D probably damaging Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mgat4d G A 8: 84,082,301 (GRCm39) probably benign Het
Mroh1 T C 15: 76,292,245 (GRCm39) probably null Het
Mx1 T C 16: 97,256,432 (GRCm39) probably benign Het
Nlrp1b A G 11: 71,046,815 (GRCm39) probably benign Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Or6c210 T A 10: 129,495,678 (GRCm39) M1K probably null Het
Pde8b T C 13: 95,179,955 (GRCm39) N318S probably damaging Het
Pkd1l1 T C 11: 8,839,063 (GRCm39) T874A probably benign Het
Pkd1l1 T C 11: 8,900,422 (GRCm39) T40A probably benign Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Ptprn A T 1: 75,234,581 (GRCm39) probably benign Het
Setx T G 2: 29,038,549 (GRCm39) I1678S possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Sp8 G A 12: 118,813,473 (GRCm39) G443S probably damaging Het
Stk39 C T 2: 68,144,923 (GRCm39) G384S probably damaging Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Trip10 A G 17: 57,570,039 (GRCm39) D568G possibly damaging Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Uvssa C T 5: 33,549,407 (GRCm39) T356I probably damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging 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
Zfp516 C A 18: 82,973,895 (GRCm39) A31D possibly 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
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'- GAAGTATGATTCAACCATACAGCC -3'
(R):5'- TTCATCCTCCTTGAGCAAAGAATAG -3'

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