Incidental Mutation 'IGL01697:Or5b96'
ID 104298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b96
Ensembl Gene ENSMUSG00000057817
Gene Name olfactory receptor family 5 subfamily B member 96
Synonyms Olfr1446, MOR202-2, GA_x6K02T2RE5P-3220047-3219130
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01697
Quality Score
Status
Chromosome 19
Chromosomal Location 12867013-12867939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12867831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 37 (T37S)
Ref Sequence ENSEMBL: ENSMUSP00000149198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081236] [ENSMUST00000207741] [ENSMUST00000216805]
AlphaFold Q8VFX4
Predicted Effect probably benign
Transcript: ENSMUST00000081236
AA Change: T37S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: T37S

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207319
AA Change: T37S
Predicted Effect probably benign
Transcript: ENSMUST00000207741
AA Change: T37S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000216805
AA Change: T37S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,203,613 (GRCm39) probably benign Het
Arid2 A C 15: 96,259,453 (GRCm39) probably null Het
Cadm1 C A 9: 47,761,622 (GRCm39) D435E probably damaging Het
Dagla A G 19: 10,248,562 (GRCm39) F33L probably benign Het
Edrf1 A G 7: 133,245,459 (GRCm39) H199R probably benign Het
F5 T A 1: 164,021,621 (GRCm39) N1365K probably benign Het
Gipc2 T G 3: 151,843,245 (GRCm39) I131L probably benign Het
Gpc1 C T 1: 92,786,132 (GRCm39) S507F possibly damaging Het
Grid1 A G 14: 35,031,214 (GRCm39) D269G probably benign Het
Ighv12-3 A T 12: 114,330,573 (GRCm39) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm39) H129R possibly damaging Het
Lipo3 A T 19: 33,536,965 (GRCm39) C252S probably damaging Het
Mast4 A C 13: 102,904,401 (GRCm39) N645K probably damaging Het
Megf9 T A 4: 70,351,709 (GRCm39) T471S possibly damaging Het
Mmrn1 A G 6: 60,953,477 (GRCm39) D586G possibly damaging Het
Ninl A T 2: 150,781,867 (GRCm39) L1206Q probably damaging Het
Oog2 T A 4: 143,921,754 (GRCm39) N221K possibly damaging Het
Or13a17 T C 7: 140,271,565 (GRCm39) V249A possibly damaging Het
Or6c8b C A 10: 128,882,371 (GRCm39) C187F probably damaging Het
Pik3ap1 G A 19: 41,313,018 (GRCm39) A365V probably damaging Het
Ppwd1 T C 13: 104,356,972 (GRCm39) E181G probably benign Het
Scaf11 A C 15: 96,321,504 (GRCm39) probably benign Het
Skic3 C T 13: 76,276,852 (GRCm39) L479F probably benign Het
Skint7 T A 4: 111,837,654 (GRCm39) probably benign Het
Sox14 T C 9: 99,757,716 (GRCm39) I8V probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm39) M2L probably benign Het
Stim1 A T 7: 102,075,176 (GRCm39) probably benign Het
Ttll3 T C 6: 113,376,690 (GRCm39) S357P probably benign Het
Vmn1r178 T A 7: 23,593,114 (GRCm39) I54N probably damaging Het
Zdhhc2 T C 8: 40,920,460 (GRCm39) probably benign Het
Other mutations in Or5b96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Or5b96 APN 19 12,867,282 (GRCm39) missense probably benign 0.00
IGL01399:Or5b96 APN 19 12,867,803 (GRCm39) missense probably benign 0.28
IGL01739:Or5b96 APN 19 12,867,513 (GRCm39) missense probably benign 0.02
IGL01894:Or5b96 APN 19 12,867,007 (GRCm39) utr 3 prime probably benign
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R1163:Or5b96 UTSW 19 12,867,513 (GRCm39) missense probably benign 0.02
R1769:Or5b96 UTSW 19 12,867,047 (GRCm39) missense probably damaging 1.00
R4406:Or5b96 UTSW 19 12,867,598 (GRCm39) nonsense probably null
R5038:Or5b96 UTSW 19 12,867,770 (GRCm39) missense probably damaging 1.00
R5207:Or5b96 UTSW 19 12,867,801 (GRCm39) missense probably benign 0.28
R5627:Or5b96 UTSW 19 12,867,663 (GRCm39) missense probably damaging 1.00
R5995:Or5b96 UTSW 19 12,867,961 (GRCm39) splice site probably null
R7953:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8043:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8254:Or5b96 UTSW 19 12,867,849 (GRCm39) missense probably benign 0.00
R8812:Or5b96 UTSW 19 12,867,560 (GRCm39) missense probably damaging 1.00
R9242:Or5b96 UTSW 19 12,867,989 (GRCm39) intron probably benign
X0062:Or5b96 UTSW 19 12,867,927 (GRCm39) missense probably benign 0.42
Posted On 2014-01-21