Incidental Mutation 'IGL01540:Or10a3b'
ID 90119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10a3b
Ensembl Gene ENSMUSG00000062434
Gene Name olfactory receptor family 10 subfamily A member 3B
Synonyms GA_x6K02T2PBJ9-11176324-11175380, MOR268-2, Olfr516
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL01540
Quality Score
Status
Chromosome 7
Chromosomal Location 108444271-108445215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108444887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 110 (T110N)
Ref Sequence ENSEMBL: ENSMUSP00000150359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071410] [ENSMUST00000216092] [ENSMUST00000217279]
AlphaFold Q8VFZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000071410
AA Change: T110N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071358
Gene: ENSMUSG00000062434
AA Change: T110N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.2e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.9e-5 PFAM
Pfam:7tm_1 41 290 9.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208389
Predicted Effect probably damaging
Transcript: ENSMUST00000216092
AA Change: T110N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217279
AA Change: T110N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,151,252 (GRCm39) probably null Het
Ceacam12 T C 7: 17,805,727 (GRCm39) probably benign Het
Cyp2j13 A T 4: 95,956,959 (GRCm39) probably benign Het
Golim4 T G 3: 75,794,047 (GRCm39) E538A possibly damaging Het
Gstcd A T 3: 132,692,175 (GRCm39) V580D probably damaging Het
Hspg2 A G 4: 137,247,017 (GRCm39) T1115A probably damaging Het
Maea T C 5: 33,515,910 (GRCm39) S18P probably benign Het
Mertk T C 2: 128,625,887 (GRCm39) L674P probably damaging Het
Nol8 A T 13: 49,815,146 (GRCm39) Q400L probably benign Het
Nt5el T C 13: 105,218,761 (GRCm39) S32P possibly damaging Het
Or6b2 A G 1: 92,408,202 (GRCm39) L47P probably damaging Het
Pycard T A 7: 127,592,002 (GRCm39) D113V probably benign Het
S100z G A 13: 95,613,861 (GRCm39) T83M probably damaging Het
Sacs A G 14: 61,429,084 (GRCm39) D381G possibly damaging Het
Spata31h1 A T 10: 82,120,016 (GRCm39) H4331Q possibly damaging Het
Tbpl2 T C 2: 23,984,985 (GRCm39) H53R probably benign Het
Tlr6 T C 5: 65,112,629 (GRCm39) R93G probably damaging Het
Trabd A G 15: 88,968,998 (GRCm39) E172G probably benign Het
Vrk3 A G 7: 44,416,568 (GRCm39) H277R probably damaging Het
Zfp512 T C 5: 31,630,840 (GRCm39) V338A probably damaging Het
Other mutations in Or10a3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0583:Or10a3b UTSW 7 108,444,621 (GRCm39) missense possibly damaging 0.87
R0939:Or10a3b UTSW 7 108,444,440 (GRCm39) missense probably damaging 1.00
R1037:Or10a3b UTSW 7 108,445,191 (GRCm39) missense probably benign 0.04
R1631:Or10a3b UTSW 7 108,445,064 (GRCm39) missense probably damaging 1.00
R1691:Or10a3b UTSW 7 108,444,348 (GRCm39) missense possibly damaging 0.60
R5153:Or10a3b UTSW 7 108,444,906 (GRCm39) missense probably benign 0.03
R6114:Or10a3b UTSW 7 108,444,593 (GRCm39) missense possibly damaging 0.53
R6305:Or10a3b UTSW 7 108,444,761 (GRCm39) missense possibly damaging 0.87
R6808:Or10a3b UTSW 7 108,444,747 (GRCm39) missense probably benign 0.01
R6896:Or10a3b UTSW 7 108,444,750 (GRCm39) missense probably benign
R7544:Or10a3b UTSW 7 108,444,528 (GRCm39) missense probably benign 0.39
R8998:Or10a3b UTSW 7 108,445,017 (GRCm39) missense probably benign 0.22
Posted On 2013-12-03