Incidental Mutation 'IGL03400:Or11q2'
ID 421385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11q2
Ensembl Gene ENSMUSG00000071764
Gene Name olfactory receptor family 11 subfamily Q member 2
Synonyms GA_x6K02T2Q64A-11736563-11737522, Olfr1320, MOR122-3
Accession Numbers
Essential gene? Not available question?
Stock # IGL03400
Quality Score
Status
Chromosome X
Chromosomal Location 48772381-48773340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48772781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 134 (L134Q)
Ref Sequence ENSEMBL: ENSMUSP00000149950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096449] [ENSMUST00000214273] [ENSMUST00000214375]
AlphaFold A2AHM8
Predicted Effect probably damaging
Transcript: ENSMUST00000096449
AA Change: L134Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094186
Gene: ENSMUSG00000071764
AA Change: L134Q

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 5e-49 PFAM
Pfam:7tm_1 45 298 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214273
AA Change: L134Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214375
AA Change: L134Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bmp3 T C 5: 99,019,957 (GRCm39) S127P probably damaging Het
Cemip A G 7: 83,607,724 (GRCm39) S761P probably damaging Het
Cenatac A G 9: 44,324,486 (GRCm39) V185A probably benign Het
Ces3b A G 8: 105,819,568 (GRCm39) T495A probably damaging Het
Cops3 A T 11: 59,708,914 (GRCm39) D413E probably benign Het
Cyp4f16 A G 17: 32,769,327 (GRCm39) I406V probably benign Het
Efcab6 A T 15: 83,751,246 (GRCm39) probably benign Het
Emsy A G 7: 98,251,933 (GRCm39) V703A possibly damaging Het
Fancb T C X: 163,778,587 (GRCm39) S587P possibly damaging Het
Farp1 A G 14: 121,444,733 (GRCm39) Y80C probably damaging Het
Fgf10 T C 13: 118,918,151 (GRCm39) probably null Het
Fgf13 A G X: 58,171,248 (GRCm39) probably benign Het
Filip1 T C 9: 79,727,755 (GRCm39) K288R probably benign Het
L3mbtl3 T C 10: 26,191,424 (GRCm39) N458S unknown Het
Nek11 C T 9: 105,082,065 (GRCm39) A513T probably benign Het
Or10a3m A C 7: 108,312,733 (GRCm39) I46L probably benign Het
Or2ah1 T C 2: 85,654,094 (GRCm39) Y260H probably damaging Het
Palld G T 8: 61,966,489 (GRCm39) A630E probably damaging Het
Pdk1 T C 2: 71,726,091 (GRCm39) M333T probably benign Het
Rab9 T C X: 165,240,744 (GRCm39) N189S probably benign Het
Shtn1 C T 19: 59,020,690 (GRCm39) probably benign Het
Sntg1 T C 1: 8,533,638 (GRCm39) I339V probably damaging Het
Spns3 A G 11: 72,390,501 (GRCm39) V418A possibly damaging Het
St14 T A 9: 31,008,267 (GRCm39) probably benign Het
Tedc2 T C 17: 24,438,777 (GRCm39) D180G probably benign Het
Trim33 T C 3: 103,236,459 (GRCm39) I523T probably damaging Het
Ttn T A 2: 76,551,208 (GRCm39) M23068L probably benign Het
Ttn T C 2: 76,579,266 (GRCm39) M15549V probably damaging Het
Tubgcp6 A G 15: 88,992,302 (GRCm39) probably benign Het
Ube3c A G 5: 29,806,345 (GRCm39) Y329C probably benign Het
Zmym4 G T 4: 126,816,920 (GRCm39) D259E probably benign Het
Other mutations in Or11q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Or11q2 APN X 48,772,742 (GRCm39) missense probably benign 0.34
X0017:Or11q2 UTSW X 48,772,517 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02