Incidental Mutation 'IGL02534:Or12e9'
ID 297421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or12e9
Ensembl Gene ENSMUSG00000070852
Gene Name olfactory receptor family 12 subfamily E member 9
Synonyms Olfr1121, GA_x6K02T2Q125-48863863-48864807, MOR264-18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02534
Quality Score
Status
Chromosome 2
Chromosomal Location 87201878-87202822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87202598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 241 (S241A)
Ref Sequence ENSEMBL: ENSMUSP00000150120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062555] [ENSMUST00000213792]
AlphaFold L7MTT1
Predicted Effect probably benign
Transcript: ENSMUST00000062555
AA Change: S241A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: S241A

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 3.3e-54 PFAM
Pfam:7tm_1 47 296 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213792
AA Change: S241A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,506,030 (GRCm39) E186K possibly damaging Het
Ajm1 G T 2: 25,467,043 (GRCm39) S956* probably null Het
Anks1b A G 10: 90,730,979 (GRCm39) I932V probably benign Het
Atg2b A G 12: 105,609,526 (GRCm39) Y1361H probably damaging Het
Bcl9 G T 3: 97,122,545 (GRCm39) L85M probably damaging Het
Bcl9l T G 9: 44,417,036 (GRCm39) S291R probably benign Het
Cpa2 T A 6: 30,550,767 (GRCm39) D201E probably benign Het
Efna5 A T 17: 62,920,384 (GRCm39) C164* probably null Het
Fhip2b A T 14: 70,823,128 (GRCm39) H642Q probably damaging Het
Fhip2b T A 14: 70,823,630 (GRCm39) H580L probably benign Het
Gm6316 A G 12: 69,967,763 (GRCm39) probably benign Het
Gucy2g A G 19: 55,229,500 (GRCm39) S57P probably damaging Het
Inf2 C A 12: 112,576,930 (GRCm39) A968E unknown Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mcm5 T A 8: 75,840,861 (GRCm39) V222E probably damaging Het
Muc5b A G 7: 141,398,456 (GRCm39) Y287C unknown Het
Or13a24 A T 7: 140,154,554 (GRCm39) M163L probably benign Het
Or14c39 G A 7: 86,343,939 (GRCm39) V92M probably benign Het
Or8u10 A G 2: 85,915,713 (GRCm39) M136T probably damaging Het
Pabpc1l A G 2: 163,869,410 (GRCm39) D70G probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Ppp1r17 C A 6: 56,003,445 (GRCm39) S86* probably null Het
Rasd1 A G 11: 59,855,615 (GRCm39) M6T possibly damaging Het
Rsph14 C A 10: 74,793,466 (GRCm39) V345F probably damaging Het
Slc11a2 T A 15: 100,299,207 (GRCm39) Q121L probably benign Het
Smc5 A T 19: 23,205,536 (GRCm39) probably null Het
Tanc2 T C 11: 105,725,994 (GRCm39) L386P probably damaging Het
Tmem9b A T 7: 109,336,164 (GRCm39) L160Q probably damaging Het
Trim32 A G 4: 65,532,906 (GRCm39) T488A possibly damaging Het
Tubb1 A G 2: 174,297,462 (GRCm39) I24V probably benign Het
Upf1 A T 8: 70,788,302 (GRCm39) probably null Het
Zfp263 T A 16: 3,564,279 (GRCm39) probably benign Het
Other mutations in Or12e9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03280:Or12e9 APN 2 87,202,467 (GRCm39) missense probably damaging 1.00
R0501:Or12e9 UTSW 2 87,201,896 (GRCm39) missense probably damaging 0.96
R1350:Or12e9 UTSW 2 87,202,701 (GRCm39) missense probably benign
R1713:Or12e9 UTSW 2 87,202,290 (GRCm39) missense probably damaging 1.00
R2404:Or12e9 UTSW 2 87,202,568 (GRCm39) missense probably benign 0.09
R4737:Or12e9 UTSW 2 87,202,665 (GRCm39) missense probably damaging 0.99
R4825:Or12e9 UTSW 2 87,202,432 (GRCm39) nonsense probably null
R5109:Or12e9 UTSW 2 87,201,878 (GRCm39) start codon destroyed probably null 0.04
R5200:Or12e9 UTSW 2 87,202,446 (GRCm39) missense probably damaging 0.99
R6393:Or12e9 UTSW 2 87,201,909 (GRCm39) missense probably damaging 1.00
R6658:Or12e9 UTSW 2 87,202,497 (GRCm39) missense probably benign 0.01
R7011:Or12e9 UTSW 2 87,202,604 (GRCm39) missense possibly damaging 0.74
R7427:Or12e9 UTSW 2 87,202,034 (GRCm39) missense probably benign 0.01
R7428:Or12e9 UTSW 2 87,202,034 (GRCm39) missense probably benign 0.01
R7671:Or12e9 UTSW 2 87,202,613 (GRCm39) missense probably damaging 1.00
R8268:Or12e9 UTSW 2 87,202,332 (GRCm39) missense probably damaging 0.97
R9015:Or12e9 UTSW 2 87,202,485 (GRCm39) missense possibly damaging 0.48
R9344:Or12e9 UTSW 2 87,202,161 (GRCm39) missense possibly damaging 0.89
R9468:Or12e9 UTSW 2 87,202,116 (GRCm39) missense probably damaging 1.00
R9492:Or12e9 UTSW 2 87,201,960 (GRCm39) missense probably benign 0.12
Posted On 2015-04-16