Incidental Mutation 'IGL02292:Or4c11b'
ID 290081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c11b
Ensembl Gene ENSMUSG00000059023
Gene Name olfactory receptor family 4 subfamily C member 11B
Synonyms GA_x6K02T2Q125-50268830-50269753, Olfr1201, MOR230-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02292
Quality Score
Status
Chromosome 2
Chromosomal Location 88624728-88625651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88625631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 302 (V302I)
Ref Sequence ENSEMBL: ENSMUSP00000150454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073458] [ENSMUST00000216213]
AlphaFold Q8VGF5
Predicted Effect probably benign
Transcript: ENSMUST00000073458
AA Change: V302I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073163
Gene: ENSMUSG00000059023
AA Change: V302I

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.4e-46 PFAM
Pfam:7TM_GPCR_Srsx 32 300 3.3e-5 PFAM
Pfam:7tm_1 39 285 3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214018
Predicted Effect probably benign
Transcript: ENSMUST00000216213
AA Change: V302I

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
2310022A10Rik A G 7: 27,263,982 (GRCm39) M51V probably benign Het
Abcb5 C T 12: 118,881,932 (GRCm39) G599D probably damaging Het
Aim2 T A 1: 173,289,840 (GRCm39) I261N probably benign Het
Alpk3 A G 7: 80,727,653 (GRCm39) H261R possibly damaging Het
Ankrd12 G A 17: 66,349,582 (GRCm39) H84Y probably damaging Het
Ankrd17 T C 5: 90,400,718 (GRCm39) probably benign Het
Apc2 C T 10: 80,138,258 (GRCm39) P139S possibly damaging Het
Cct7 A G 6: 85,438,091 (GRCm39) Y111C probably benign Het
Cd226 G A 18: 89,225,216 (GRCm39) V38I possibly damaging Het
Cdh3 A G 8: 107,271,833 (GRCm39) Y582C probably damaging Het
Csmd1 T C 8: 16,261,884 (GRCm39) D871G probably damaging Het
Cyp4a31 A T 4: 115,423,698 (GRCm39) N133I probably damaging Het
Fem1b T C 9: 62,703,977 (GRCm39) I428V probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Flrt3 G A 2: 140,502,045 (GRCm39) P528S probably damaging Het
Gm9476 A C 10: 100,143,046 (GRCm39) noncoding transcript Het
Itgae T C 11: 73,009,361 (GRCm39) I515T probably damaging Het
Itih1 T A 14: 30,655,312 (GRCm39) probably null Het
Map3k4 A G 17: 12,454,045 (GRCm39) V1419A possibly damaging Het
Mfsd6l A T 11: 68,448,576 (GRCm39) I476L probably benign Het
Mrpl2 T C 17: 46,959,157 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,917,729 (GRCm39) L314P probably damaging Het
Msto1 C A 3: 88,819,131 (GRCm39) R205S probably benign Het
Myh9 A T 15: 77,692,196 (GRCm39) I121N probably damaging Het
Omt2a G A 9: 78,220,621 (GRCm39) R20C possibly damaging Het
Pdpr G A 8: 111,852,312 (GRCm39) V560I probably damaging Het
Rimkla A T 4: 119,325,549 (GRCm39) C287S probably damaging Het
Shcbp1l T A 1: 153,311,891 (GRCm39) probably benign Het
Tm7sf2 T A 19: 6,113,598 (GRCm39) K111I probably damaging Het
Tnfrsf21 A G 17: 43,350,802 (GRCm39) E322G probably benign Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Zbtb20 T A 16: 43,431,011 (GRCm39) Y507* probably null Het
Other mutations in Or4c11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Or4c11b APN 2 88,625,637 (GRCm39) missense probably benign
IGL03037:Or4c11b APN 2 88,625,299 (GRCm39) missense probably damaging 1.00
R2341:Or4c11b UTSW 2 88,624,989 (GRCm39) missense probably benign 0.16
R3900:Or4c11b UTSW 2 88,625,273 (GRCm39) missense possibly damaging 0.88
R6394:Or4c11b UTSW 2 88,625,296 (GRCm39) missense probably benign 0.22
R7276:Or4c11b UTSW 2 88,625,025 (GRCm39) missense probably damaging 1.00
R9106:Or4c11b UTSW 2 88,625,016 (GRCm39) missense probably benign 0.04
R9654:Or4c11b UTSW 2 88,625,263 (GRCm39) missense probably damaging 1.00
R9802:Or4c11b UTSW 2 88,625,491 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16