Incidental Mutation 'R1639:Or4a81'
ID 173353
Institutional Source Beutler Lab
Gene Symbol Or4a81
Ensembl Gene ENSMUSG00000075074
Gene Name olfactory receptor family 4 subfamily A member 81
Synonyms Olfr1254, GA_x6K02T2Q125-51230155-51229211, MOR231-13
MMRRC Submission 039675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1639 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89618750-89619694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89619589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 36 (T36A)
Ref Sequence ENSEMBL: ENSMUSP00000149507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099764] [ENSMUST00000111523] [ENSMUST00000216587]
AlphaFold Q8VFB1
Predicted Effect probably damaging
Transcript: ENSMUST00000099764
AA Change: T36A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097352
Gene: ENSMUSG00000075074
AA Change: T36A

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 9.7e-30 PFAM
Pfam:7tm_4 137 278 1.3e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111523
AA Change: T36A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107148
Gene: ENSMUSG00000075074
AA Change: T36A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.4e-46 PFAM
Pfam:7tm_1 39 285 5.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216587
AA Change: T36A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,828 (GRCm39) T425N probably benign Het
Adam18 T A 8: 25,142,168 (GRCm39) I203L probably benign Het
Amigo2 A G 15: 97,143,879 (GRCm39) M181T probably benign Het
Anks1 T A 17: 28,277,280 (GRCm39) I1045N probably damaging Het
Ap3d1 C T 10: 80,565,844 (GRCm39) V108I probably damaging Het
Arl8a C T 1: 135,080,561 (GRCm39) R57* probably null Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Brpf3 T C 17: 29,043,042 (GRCm39) probably null Het
C2 T C 17: 35,091,379 (GRCm39) K95E probably benign Het
Cdk19 T C 10: 40,352,965 (GRCm39) probably null Het
Cebpz T A 17: 79,242,035 (GRCm39) I540L possibly damaging Het
Cep128 A G 12: 91,333,142 (GRCm39) V41A probably damaging Het
Cog7 T C 7: 121,580,642 (GRCm39) E56G probably damaging Het
Cylc2 T C 4: 51,228,310 (GRCm39) V127A probably benign Het
Cyp2b23 A G 7: 26,385,842 (GRCm39) V5A possibly damaging Het
Cyp8b1 A G 9: 121,743,956 (GRCm39) Y459H probably benign Het
Dbpht2 A G 12: 74,345,932 (GRCm39) noncoding transcript Het
Ddx24 T C 12: 103,377,578 (GRCm39) probably null Het
Dgki C T 6: 36,914,299 (GRCm39) C757Y probably damaging Het
Eef2k T A 7: 120,485,051 (GRCm39) L306H probably damaging Het
Ephb2 T C 4: 136,421,216 (GRCm39) N378S probably benign Het
Espl1 C T 15: 102,229,149 (GRCm39) T1767I probably damaging Het
Fbn2 C A 18: 58,191,534 (GRCm39) A1530S probably benign Het
Fndc11 A G 2: 180,863,374 (GRCm39) S60G possibly damaging Het
Glb1l G T 1: 75,176,245 (GRCm39) Q612K probably benign Het
Gpsm1 A G 2: 26,235,199 (GRCm39) E371G probably damaging Het
Gtpbp2 G A 17: 46,476,697 (GRCm39) probably null Het
Itch A G 2: 155,020,945 (GRCm39) probably null Het
Itga2 T C 13: 114,993,832 (GRCm39) T774A probably benign Het
Kit A G 5: 75,813,467 (GRCm39) I881V probably damaging Het
Lpar5 T C 6: 125,058,564 (GRCm39) L95P probably damaging Het
Lrp6 T C 6: 134,430,529 (GRCm39) T1511A possibly damaging Het
Mgat4c T C 10: 102,214,142 (GRCm39) Y42H probably damaging Het
Mpp3 G T 11: 101,914,268 (GRCm39) T109K probably damaging Het
Msantd4 A G 9: 4,385,199 (GRCm39) E308G probably damaging Het
Mug1 T C 6: 121,857,530 (GRCm39) S1085P probably damaging Het
Myo5b A G 18: 74,840,987 (GRCm39) H956R probably benign Het
Ncoa7 A C 10: 30,577,988 (GRCm39) L132R probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Pkhd1l1 G A 15: 44,404,351 (GRCm39) V2327M probably damaging Het
Ppp1r9b T C 11: 94,887,436 (GRCm39) Y59H probably damaging Het
Sema4c A T 1: 36,592,615 (GRCm39) F152I probably benign Het
Slit2 A T 5: 48,416,996 (GRCm39) Y1016F probably damaging Het
Spata31d1c T A 13: 65,183,853 (GRCm39) V465D probably benign Het
Ssc5d T C 7: 4,931,416 (GRCm39) C208R probably damaging Het
Stambpl1 T G 19: 34,213,707 (GRCm39) V312G probably benign Het
Stim1 T A 7: 102,003,748 (GRCm39) D60E probably benign Het
Syt13 T A 2: 92,776,316 (GRCm39) V201D probably benign Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tex15 T C 8: 34,060,845 (GRCm39) S366P possibly damaging Het
Tex56 T C 13: 35,128,233 (GRCm39) I150T possibly damaging Het
Tpte G A 8: 22,810,913 (GRCm39) R190H probably benign Het
Vmn1r4 T C 6: 56,934,060 (GRCm39) V188A probably damaging Het
Vmn2r88 A G 14: 51,654,244 (GRCm39) D542G probably damaging Het
Vps33b T A 7: 79,934,101 (GRCm39) I257N probably damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zc3h11a G T 1: 133,552,446 (GRCm39) Q554K probably benign Het
Zfp947 T C 17: 22,365,074 (GRCm39) K200R probably benign Het
Zscan12 T A 13: 21,553,156 (GRCm39) C327S probably damaging Het
Other mutations in Or4a81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Or4a81 APN 2 89,619,129 (GRCm39) missense probably damaging 1.00
IGL02822:Or4a81 APN 2 89,619,444 (GRCm39) missense possibly damaging 0.56
R1166:Or4a81 UTSW 2 89,619,675 (GRCm39) missense possibly damaging 0.74
R2248:Or4a81 UTSW 2 89,619,524 (GRCm39) missense possibly damaging 0.59
R2256:Or4a81 UTSW 2 89,618,814 (GRCm39) missense probably benign
R2351:Or4a81 UTSW 2 89,619,522 (GRCm39) missense probably damaging 0.97
R4432:Or4a81 UTSW 2 89,619,078 (GRCm39) missense possibly damaging 0.76
R4649:Or4a81 UTSW 2 89,619,637 (GRCm39) missense probably benign 0.19
R4788:Or4a81 UTSW 2 89,619,480 (GRCm39) missense probably damaging 1.00
R6454:Or4a81 UTSW 2 89,619,522 (GRCm39) missense probably damaging 0.97
R6591:Or4a81 UTSW 2 89,619,332 (GRCm39) nonsense probably null
R6691:Or4a81 UTSW 2 89,619,332 (GRCm39) nonsense probably null
R7418:Or4a81 UTSW 2 89,619,320 (GRCm39) nonsense probably null
R7451:Or4a81 UTSW 2 89,619,453 (GRCm39) missense probably benign
R8024:Or4a81 UTSW 2 89,619,390 (GRCm39) missense probably benign 0.07
R8080:Or4a81 UTSW 2 89,618,971 (GRCm39) missense possibly damaging 0.78
R8251:Or4a81 UTSW 2 89,619,567 (GRCm39) missense probably damaging 1.00
R8318:Or4a81 UTSW 2 89,619,321 (GRCm39) missense possibly damaging 0.60
R8475:Or4a81 UTSW 2 89,619,586 (GRCm39) missense probably benign 0.01
R9166:Or4a81 UTSW 2 89,619,291 (GRCm39) missense probably damaging 1.00
R9460:Or4a81 UTSW 2 89,618,778 (GRCm39) missense probably benign
R9474:Or4a81 UTSW 2 89,619,506 (GRCm39) nonsense probably null
R9677:Or4a81 UTSW 2 89,619,161 (GRCm39) missense possibly damaging 0.95
X0022:Or4a81 UTSW 2 89,619,075 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CACAAAGAGTTGGCCCATGCAAG -3'
(R):5'- CATTCCACACCTCAGTGGCTATGTC -3'

Sequencing Primer
(F):5'- GCCCATGCAAGCTCTGAAAG -3'
(R):5'- GGCTTTCAACTGAAGATGAAACC -3'
Posted On 2014-04-24