Incidental Mutation 'PIT4280001:Or9a4'
ID 554407
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 40546086-40549438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40548650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 110 (T110K)
Ref Sequence ENSEMBL: ENSMUSP00000151187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051540] [ENSMUST00000101491] [ENSMUST00000216942]
AlphaFold Q8VF31
Predicted Effect probably damaging
Transcript: ENSMUST00000051540
AA Change: T110K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054887
Gene: ENSMUSG00000045514
AA Change: T110K

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

transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000216942
AA Change: T110K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M possibly damaging 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
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
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

Sequencing Primer
Posted On 2019-06-07