Incidental Mutation 'R2004:Trpa1'
ID 223289
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 040013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2004 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 14942872-14989086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14976207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 165 (N165K)
Ref Sequence ENSEMBL: ENSMUSP00000043594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041447]
AlphaFold Q8BLA8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041447
AA Change: N165K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: N165K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,561 (GRCm39) Y146* probably null Het
Adcy2 A G 13: 68,944,722 (GRCm39) L220P probably damaging Het
Agl T C 3: 116,574,914 (GRCm39) Y660C probably damaging Het
Ak1 A G 2: 32,519,622 (GRCm39) T17A probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankrd11 A T 8: 123,629,161 (GRCm39) probably null Het
Ap5b1 T C 19: 5,620,502 (GRCm39) S641P possibly damaging Het
Apoc4 A G 7: 19,415,304 (GRCm39) M1T probably null Het
Arhgap5 T C 12: 52,564,817 (GRCm39) V596A probably benign Het
Ascc3 A G 10: 50,493,838 (GRCm39) E91G probably damaging Het
Bach2 T A 4: 32,580,055 (GRCm39) V637E probably benign Het
Bicd2 T G 13: 49,532,881 (GRCm39) L489R possibly damaging Het
Bltp1 C T 3: 36,949,527 (GRCm39) T2I possibly damaging Het
Boc A T 16: 44,322,007 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,791 (GRCm39) V188D probably damaging Het
Ccl11 A C 11: 81,953,123 (GRCm39) T94P probably damaging Het
Cd109 A T 9: 78,611,044 (GRCm39) H1220L probably benign Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Cep135 T A 5: 76,780,176 (GRCm39) probably null Het
Cgnl1 T G 9: 71,537,821 (GRCm39) E1233A probably damaging Het
Ckap5 T A 2: 91,437,891 (GRCm39) D1597E possibly damaging Het
Clptm1 A G 7: 19,380,762 (GRCm39) I63T possibly damaging Het
Cpsf7 C T 19: 10,518,073 (GRCm39) P428S probably damaging Het
Cuedc1 C T 11: 88,068,216 (GRCm39) P155S probably damaging Het
Dgkb T C 12: 38,134,228 (GRCm39) Y45H probably damaging Het
Dglucy T C 12: 100,823,181 (GRCm39) F459L probably damaging Het
Dmp1 T A 5: 104,359,790 (GRCm39) D155E possibly damaging Het
Dnah1 T A 14: 31,023,813 (GRCm39) I960F possibly damaging Het
Drosha G T 15: 12,915,467 (GRCm39) M795I probably damaging Het
Dsg1b A G 18: 20,529,532 (GRCm39) T326A probably damaging Het
Dusp16 T G 6: 134,695,802 (GRCm39) N343T probably benign Het
Faim2 T C 15: 99,398,127 (GRCm39) S274G possibly damaging Het
Fhip2a G T 19: 57,370,324 (GRCm39) V523L probably benign Het
Fndc1 T C 17: 8,023,761 (GRCm39) R65G probably damaging Het
Fnip2 A T 3: 79,419,632 (GRCm39) probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Herc2 T C 7: 55,787,607 (GRCm39) F1755L probably damaging Het
Hivep1 C T 13: 42,313,625 (GRCm39) T1955I possibly damaging Het
Ift20 T C 11: 78,431,797 (GRCm39) I97T probably damaging Het
Il36rn T C 2: 24,171,376 (GRCm39) C155R probably damaging Het
Lca5l T A 16: 95,963,849 (GRCm39) K358N probably damaging Het
Lca5l T C 16: 95,977,218 (GRCm39) N196S possibly damaging Het
Maf1 G A 15: 76,237,563 (GRCm39) D175N probably damaging Het
Mical3 T C 6: 120,928,283 (GRCm39) K996E probably damaging Het
Midn A G 10: 79,990,983 (GRCm39) N331S probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mlx A G 11: 100,979,805 (GRCm39) Q162R possibly damaging Het
Nalf1 A G 8: 9,820,607 (GRCm39) S138P probably benign Het
Ngp T C 9: 110,249,929 (GRCm39) C76R probably damaging Het
Nin C T 12: 70,072,251 (GRCm39) G1210D probably benign Het
Nlgn1 A G 3: 25,488,034 (GRCm39) I738T probably benign Het
Nop53 A C 7: 15,672,153 (GRCm39) F465C probably damaging Het
Npas3 A G 12: 54,114,680 (GRCm39) D503G possibly damaging Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nup42 G T 5: 24,386,989 (GRCm39) G260* probably null Het
Ogdh G C 11: 6,284,626 (GRCm39) R200P possibly damaging Het
Or4b13 T A 2: 90,083,036 (GRCm39) I99L probably benign Het
Or52n20 A G 7: 104,320,808 (GRCm39) T300A possibly damaging Het
Or5m13b T G 2: 85,753,939 (GRCm39) probably null Het
Or6ae1 C T 7: 139,742,729 (GRCm39) V45I probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or7g33 A T 9: 19,448,688 (GRCm39) C179* probably null Het
Ovgp1 T A 3: 105,894,309 (GRCm39) probably benign Het
Papln T A 12: 83,819,992 (GRCm39) C150S probably damaging Het
Pde1c A T 6: 56,135,996 (GRCm39) L316Q probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Piezo2 G T 18: 63,277,997 (GRCm39) D302E probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin1 A G 7: 79,375,378 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,688,484 (GRCm39) I698T probably damaging Het
Ppp1r12c G T 7: 4,485,974 (GRCm39) C572* probably null Het
Ptgis T C 2: 167,056,769 (GRCm39) M273V possibly damaging Het
Samd14 C A 11: 94,914,110 (GRCm39) T283K probably damaging Het
Scnn1g A T 7: 121,337,411 (GRCm39) K91* probably null Het
Slc24a4 A G 12: 102,180,166 (GRCm39) Q95R probably damaging Het
Slfn9 T G 11: 82,879,027 (GRCm39) D34A probably benign Het
Smarca4 A T 9: 21,588,776 (GRCm39) I1193F probably damaging Het
Spata31e5 A G 1: 28,816,260 (GRCm39) W591R probably damaging Het
Sphkap T C 1: 83,255,632 (GRCm39) M706V probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stxbp1 T C 2: 32,688,201 (GRCm39) D488G probably damaging Het
Sugp2 C T 8: 70,695,306 (GRCm39) probably null Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Themis T A 10: 28,658,720 (GRCm39) N582K probably benign Het
Tmed11 C A 5: 108,934,000 (GRCm39) M65I possibly damaging Het
Top3a G T 11: 60,633,315 (GRCm39) P927Q probably damaging Het
Tsfm A G 10: 126,866,663 (GRCm39) S2P probably damaging Het
Wdr47 C A 3: 108,534,758 (GRCm39) S559* probably null Het
Wnt2b T C 3: 104,860,331 (GRCm39) Y192C probably damaging Het
Zfp280b A G 10: 75,874,370 (GRCm39) D83G probably benign Het
Zfp345 T C 2: 150,314,038 (GRCm39) T500A possibly damaging Het
Zfp78 T A 7: 6,382,074 (GRCm39) C343S 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
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'- TATCCATGTAAGTTCGTTCGACC -3'
(R):5'- GAGAGTACTGACTGCCCTTTTGG -3'

Sequencing Primer
(F):5'- ATGTAAGTTCGTTCGACCTATTTTC -3'
(R):5'- CAAAGTTGTACTAATTGTGAGCATG -3'
Posted On 2014-08-25