Incidental Mutation 'R2925:Or9a4'
ID 255703
Institutional Source Beutler Lab
Gene Symbol Or9a4
Ensembl Gene ENSMUSG00000045514
Gene Name olfactory receptor family 9 subfamily A member 4
Synonyms MOR120-2, Olfr460, GA_x6K02T2P3E9-6947292-6946348
MMRRC Submission 040510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R2925 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40546086-40549438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40548342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 7 (S7R)
Ref Sequence ENSEMBL: ENSMUSP00000151187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051540] [ENSMUST00000101491] [ENSMUST00000216942]
AlphaFold Q8VF31
Predicted Effect probably benign
Transcript: ENSMUST00000051540
AA Change: S7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054887
Gene: ENSMUSG00000045514
AA Change: S7R

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 3e-44 PFAM
Pfam:7TM_GPCR_Srsx 34 296 3e-5 PFAM
Pfam:7tm_1 40 290 2.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101491
SMART Domains Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216942
AA Change: S7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1157 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,755 (GRCm39) T93A probably damaging Het
Acte1 A T 7: 143,437,736 (GRCm39) R147* probably null Het
Akr1c21 A G 13: 4,626,349 (GRCm39) probably null Het
Alk A G 17: 72,910,202 (GRCm39) V168A probably benign Het
Ap4b1 A G 3: 103,727,997 (GRCm39) E337G probably damaging Het
Bltp1 G T 3: 37,061,271 (GRCm39) A3327S probably damaging Het
Btn2a2 A G 13: 23,665,984 (GRCm39) S283P probably damaging Het
Ctcfl C T 2: 172,936,489 (GRCm39) E628K probably damaging Het
Cul9 G A 17: 46,821,907 (GRCm39) T1856M probably benign Het
Defb41 T C 1: 18,330,857 (GRCm39) D30G probably damaging Het
Dnai1 A T 4: 41,597,919 (GRCm39) I74F probably damaging Het
Ecpas T A 4: 58,833,928 (GRCm39) K851* probably null Het
Fbln2 T A 6: 91,242,837 (GRCm39) C846S probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lyz3 C T 10: 117,070,336 (GRCm39) R147Q probably benign Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nek4 G A 14: 30,673,667 (GRCm39) G29S probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or5ac24 A T 16: 59,165,706 (GRCm39) Y119* probably null Het
Or5m11b T A 2: 85,806,125 (GRCm39) C179* probably null Het
Or8k32 C T 2: 86,368,891 (GRCm39) D121N probably damaging Het
P2ry13 G A 3: 59,116,801 (GRCm39) H326Y probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Rc3h1 A G 1: 160,782,546 (GRCm39) Y675C probably damaging Het
Samd3 T A 10: 26,127,785 (GRCm39) S288T probably benign Het
Scaf4 G T 16: 90,047,177 (GRCm39) P400Q unknown Het
Selplg T C 5: 113,958,240 (GRCm39) D22G possibly damaging Het
Slc30a6 T C 17: 74,708,999 (GRCm39) probably benign Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tnks G A 8: 35,432,815 (GRCm39) A2V unknown Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Zbed5 A G 5: 129,932,039 (GRCm39) T663A possibly damaging Het
Zbtb11 G A 16: 55,794,447 (GRCm39) R8Q probably benign Het
Other mutations in Or9a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Or9a4 APN 6 40,548,388 (GRCm39) missense probably benign 0.01
IGL01599:Or9a4 APN 6 40,549,186 (GRCm39) missense probably damaging 0.99
IGL02168:Or9a4 APN 6 40,548,317 (GRCm39) utr 5 prime probably benign
PIT4280001:Or9a4 UTSW 6 40,548,650 (GRCm39) missense probably damaging 0.98
R0964:Or9a4 UTSW 6 40,549,139 (GRCm39) missense probably benign 0.06
R1446:Or9a4 UTSW 6 40,548,833 (GRCm39) missense probably benign 0.06
R4295:Or9a4 UTSW 6 40,549,090 (GRCm39) missense probably damaging 1.00
R4382:Or9a4 UTSW 6 40,548,998 (GRCm39) missense probably damaging 1.00
R7432:Or9a4 UTSW 6 40,549,240 (GRCm39) missense probably benign 0.01
R7980:Or9a4 UTSW 6 40,549,154 (GRCm39) missense probably benign 0.00
R8338:Or9a4 UTSW 6 40,548,910 (GRCm39) missense probably benign 0.00
R8953:Or9a4 UTSW 6 40,548,676 (GRCm39) missense possibly damaging 0.89
R9080:Or9a4 UTSW 6 40,548,563 (GRCm39) missense probably damaging 1.00
R9417:Or9a4 UTSW 6 40,549,096 (GRCm39) missense
R9675:Or9a4 UTSW 6 40,548,559 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CTTTGGATAGAAATAACAGCCATGC -3'
(R):5'- ATCACGGGCACAATAACAGTTG -3'

Sequencing Primer
(F):5'- CTGTGGAGGTAAGGACTGC -3'
(R):5'- CAGTTGTAACCAGGATTTCCAGGATG -3'
Posted On 2014-12-29