Incidental Mutation 'IGL01082:Or4c11b'
ID 50442
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 # IGL01082
Quality Score
Status
Chromosome 2
Chromosomal Location 88624728-88625651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88625637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 304 (F304L)
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: F304L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073163
Gene: ENSMUSG00000059023
AA Change: F304L

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: F304L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,353,273 (GRCm39) S723F probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Ccdc116 A G 16: 16,959,856 (GRCm39) S278P probably damaging Het
Cep152 A T 2: 125,411,465 (GRCm39) probably benign Het
Cftr T C 6: 18,226,102 (GRCm39) V350A probably damaging Het
Dsc2 A T 18: 20,176,849 (GRCm39) N399K probably damaging Het
Eif3d T C 15: 77,843,943 (GRCm39) T468A probably damaging Het
Fam110b C T 4: 5,799,461 (GRCm39) A293V possibly damaging Het
Flrt1 T C 19: 7,073,339 (GRCm39) T403A probably benign Het
H3c6 A G 13: 23,746,548 (GRCm39) probably benign Het
Ift140 T A 17: 25,267,429 (GRCm39) V609E possibly damaging Het
Klb G A 5: 65,533,283 (GRCm39) V531I possibly damaging Het
Krt73 T C 15: 101,707,372 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,859 (GRCm39) V539A probably benign Het
Myb A G 10: 21,028,843 (GRCm39) V85A probably damaging Het
Ndufs1 T C 1: 63,203,976 (GRCm39) E102G probably damaging Het
Nr5a2 C A 1: 136,773,206 (GRCm39) A499S probably benign Het
Opa1 A T 16: 29,436,933 (GRCm39) probably benign Het
Or14j5 T A 17: 38,161,514 (GRCm39) S10R probably benign Het
Or4a47 A T 2: 89,674,407 (GRCm39) probably benign Het
Pcnx1 G A 12: 82,037,372 (GRCm39) E1877K possibly damaging Het
Sel1l A G 12: 91,778,682 (GRCm39) V711A probably benign Het
Slc22a16 A G 10: 40,449,860 (GRCm39) T120A probably benign Het
Slc26a1 G T 5: 108,819,744 (GRCm39) T485N possibly damaging Het
Sp100 T C 1: 85,597,741 (GRCm39) V201A possibly damaging Het
Spz1 T G 13: 92,712,029 (GRCm39) K149T probably damaging Het
Stxbp5l A G 16: 37,024,940 (GRCm39) S553P possibly damaging Het
Szt2 A G 4: 118,254,821 (GRCm39) S290P probably damaging Het
Tbc1d10c A G 19: 4,239,026 (GRCm39) Y165H probably damaging Het
Tnxb C A 17: 34,933,584 (GRCm39) Q2335K probably damaging Het
Trim33 T C 3: 103,234,175 (GRCm39) I471T possibly damaging Het
Vsig10 A G 5: 117,472,970 (GRCm39) I188V probably benign Het
Zfp109 A T 7: 23,933,784 (GRCm39) L45Q probably damaging Het
Other mutations in Or4c11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Or4c11b APN 2 88,625,631 (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 2013-06-21