Incidental Mutation 'R0964:Or9a4'
ID 81472
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 039093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40546086-40549438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40549139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 273 (V273A)
Ref Sequence ENSEMBL: ENSMUSP00000151187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051540] [ENSMUST00000101491] [ENSMUST00000216942]
AlphaFold Q8VF31
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031975
Predicted Effect probably benign
Transcript: ENSMUST00000051540
AA Change: V273A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054887
Gene: ENSMUSG00000045514
AA Change: V273A

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: V273A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.2768 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F 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
R1446:Or9a4 UTSW 6 40,548,833 (GRCm39) missense probably benign 0.06
R2925:Or9a4 UTSW 6 40,548,342 (GRCm39) missense probably benign 0.00
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'- TGAACAGTCGCACCTGCAACTC -3'
(R):5'- TGTACCTCGGAGATGGTCTTCTCAG -3'

Sequencing Primer
(F):5'- CGAGGCCAGTTGCTCAAATTATC -3'
(R):5'- GAGATGGTCTTCTCAGATTATTCCAG -3'
Posted On 2013-11-07