Incidental Mutation 'R4713:Or2av9'
ID 353385
Institutional Source Beutler Lab
Gene Symbol Or2av9
Ensembl Gene ENSMUSG00000050813
Gene Name olfactory receptor family 2 subfamily AV member 9
Synonyms GA_x6K02T2NKPP-926908-927915, Olfr332, MOR284-2
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58380545-58383325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58380913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
Ref Sequence ENSEMBL: ENSMUSP00000136008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180165] [ENSMUST00000203744]
AlphaFold Q5NC45
Predicted Effect probably benign
Transcript: ENSMUST00000180165
AA Change: T223A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: T223A

DomainStartEndE-ValueType
Pfam:7tm_1 40 289 6.8e-33 PFAM
Pfam:7tm_4 138 282 4.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203744
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Or2av9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02510:Or2av9 APN 11 58,381,365 (GRCm39) missense probably damaging 1.00
R1671:Or2av9 UTSW 11 58,381,435 (GRCm39) missense possibly damaging 0.63
R2193:Or2av9 UTSW 11 58,380,732 (GRCm39) missense probably damaging 0.97
R2393:Or2av9 UTSW 11 58,381,546 (GRCm39) missense probably benign 0.20
R5328:Or2av9 UTSW 11 58,381,255 (GRCm39) missense possibly damaging 0.91
R5636:Or2av9 UTSW 11 58,380,877 (GRCm39) missense probably damaging 1.00
R6092:Or2av9 UTSW 11 58,380,900 (GRCm39) missense probably damaging 1.00
R7011:Or2av9 UTSW 11 58,380,970 (GRCm39) missense possibly damaging 0.69
R7172:Or2av9 UTSW 11 58,380,571 (GRCm39) missense unknown
R7427:Or2av9 UTSW 11 58,380,606 (GRCm39) missense probably benign
R8832:Or2av9 UTSW 11 58,381,063 (GRCm39) missense possibly damaging 0.94
R9159:Or2av9 UTSW 11 58,381,350 (GRCm39) missense probably damaging 1.00
R9289:Or2av9 UTSW 11 58,380,745 (GRCm39) missense probably benign 0.22
Z1186:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1186:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1186:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1187:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1187:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1187:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1188:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1188:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1188:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1189:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1189:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1189:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1190:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1190:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1190:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1191:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1191:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1191:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Z1192:Or2av9 UTSW 11 58,381,314 (GRCm39) missense probably benign
Z1192:Or2av9 UTSW 11 58,381,123 (GRCm39) missense probably benign 0.01
Z1192:Or2av9 UTSW 11 58,380,574 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTATCACGGCTGCAGCATC -3'
(R):5'- TATCTGTGGCTCCAGGGAGATC -3'

Sequencing Primer
(F):5'- CCTTGTTTCTCAGGCTGTAGATAAG -3'
(R):5'- GGGAGATCAACCATTACTTCTGTGAG -3'
Posted On 2015-10-21