Incidental Mutation 'R2193:Or2av9'
ID 238275
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 040195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2193 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58380545-58383325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58380732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 283 (M283K)
Ref Sequence ENSEMBL: ENSMUSP00000136008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180165] [ENSMUST00000203744]
AlphaFold Q5NC45
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000180165
AA Change: M283K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: M283K

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 T C 7: 43,902,993 (GRCm39) R289G probably benign Het
Bfar A G 16: 13,515,335 (GRCm39) N183D probably benign Het
Cdca3 A G 6: 124,808,409 (GRCm39) T69A probably damaging Het
Ces1b A T 8: 93,806,505 (GRCm39) C14S probably benign Het
Clcn3 T A 8: 61,382,221 (GRCm39) I456F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcpp2 A C 17: 24,119,393 (GRCm39) D69A probably damaging Het
Dlgap2 T A 8: 14,793,431 (GRCm39) I475N possibly damaging Het
Dnah6 T A 6: 73,115,623 (GRCm39) M1592L probably damaging Het
Dscaml1 A G 9: 45,596,532 (GRCm39) Q792R probably benign Het
Eif2ak4 A G 2: 118,252,747 (GRCm39) I440V probably benign Het
Frrs1 T C 3: 116,671,994 (GRCm39) S31P probably damaging Het
Isoc2b T C 7: 4,853,823 (GRCm39) H117R probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Klf5 C T 14: 99,536,406 (GRCm39) probably benign Het
Ltn1 G A 16: 87,224,535 (GRCm39) S63F probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Oas1f A C 5: 120,989,648 (GRCm39) T196P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocln T C 13: 100,676,412 (GRCm39) D27G probably damaging Het
Or2y17 A G 11: 49,231,770 (GRCm39) H137R possibly damaging Het
Rasgrf2 A C 13: 92,160,221 (GRCm39) probably null Het
Sars2 G T 7: 28,448,422 (GRCm39) V268L probably damaging Het
Sin3a T A 9: 57,024,761 (GRCm39) S1040R possibly damaging Het
Vps9d1 A T 8: 123,979,404 (GRCm39) Y39N 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
R2393:Or2av9 UTSW 11 58,381,546 (GRCm39) missense probably benign 0.20
R4713:Or2av9 UTSW 11 58,380,913 (GRCm39) missense probably benign 0.01
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'- CGATGAGAACTGAGAACAACATTCC -3'
(R):5'- TCCTCAGGATGAACTCTCCC -3'

Sequencing Primer
(F):5'- ACAAGGCTCTGTTTCCAATCTGG -3'
(R):5'- TCAGGATGAACTCTCCCAAGGG -3'
Posted On 2014-10-02