Incidental Mutation 'IGL01299:Or3a4'
ID 75205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or3a4
Ensembl Gene ENSMUSG00000043692
Gene Name olfactory receptor family 3 subfamily A member 4
Synonyms GA_x6K02T2P1NL-4211516-4210581, MOR255-1, Olfr399
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01299
Quality Score
Status
Chromosome 11
Chromosomal Location 73944602-73945604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73945301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 95 (I95F)
Ref Sequence ENSEMBL: ENSMUSP00000149917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059440] [ENSMUST00000206280] [ENSMUST00000215915]
AlphaFold Q7TRX3
Predicted Effect probably benign
Transcript: ENSMUST00000059440
AA Change: I95F

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056508
Gene: ENSMUSG00000043692
AA Change: I95F

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 9.9e-55 PFAM
Pfam:7tm_1 44 293 1.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125093
Predicted Effect probably benign
Transcript: ENSMUST00000206280
Predicted Effect probably benign
Transcript: ENSMUST00000215915
AA Change: I95F

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,248,743 (GRCm39) T2830I probably benign Het
Akap1 C T 11: 88,735,080 (GRCm39) probably null Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cdk12 C T 11: 98,101,272 (GRCm39) R377C unknown Het
Cox6b1 G A 7: 30,316,553 (GRCm39) T81I possibly damaging Het
Creb1 T C 1: 64,609,284 (GRCm39) probably benign Het
Cyp4f40 G T 17: 32,886,948 (GRCm39) A140S probably benign Het
Dus4l A G 12: 31,690,823 (GRCm39) M276T probably benign Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Fmo2 A T 1: 162,705,599 (GRCm39) N413K probably benign Het
Gabrp T C 11: 33,504,476 (GRCm39) T280A probably damaging Het
Golph3l A G 3: 95,524,588 (GRCm39) T217A possibly damaging Het
Mtr T C 13: 12,240,536 (GRCm39) probably benign Het
Nbea T G 3: 55,598,315 (GRCm39) D2398A probably damaging Het
Phyh T A 2: 4,935,604 (GRCm39) W193R probably null Het
Rab36 A G 10: 74,884,298 (GRCm39) Q82R probably damaging Het
Ranbp2 T C 10: 58,328,639 (GRCm39) V2846A probably damaging Het
Rprd2 G A 3: 95,683,859 (GRCm39) S374L probably damaging Het
Slc9a3 A G 13: 74,308,382 (GRCm39) R462G probably benign Het
Slitrk3 T C 3: 72,956,349 (GRCm39) N808D probably benign Het
Tbck A T 3: 132,430,638 (GRCm39) I345F probably damaging Het
Tor2a T A 2: 32,649,558 (GRCm39) V146D probably damaging Het
Trpc6 C A 9: 8,653,062 (GRCm39) Q623K probably damaging Het
Ube2q1 A G 3: 89,688,681 (GRCm39) S192G probably damaging Het
Vnn1 T A 10: 23,770,949 (GRCm39) L59Q probably damaging Het
Other mutations in Or3a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1344:Or3a4 UTSW 11 73,945,038 (GRCm39) nonsense probably null
R1496:Or3a4 UTSW 11 73,944,650 (GRCm39) makesense probably null
R1708:Or3a4 UTSW 11 73,944,814 (GRCm39) missense probably damaging 0.99
R1911:Or3a4 UTSW 11 73,945,210 (GRCm39) missense probably damaging 0.99
R2056:Or3a4 UTSW 11 73,944,819 (GRCm39) nonsense probably null
R3418:Or3a4 UTSW 11 73,944,814 (GRCm39) missense probably damaging 0.99
R5444:Or3a4 UTSW 11 73,944,803 (GRCm39) missense probably benign 0.19
R5470:Or3a4 UTSW 11 73,944,733 (GRCm39) missense possibly damaging 0.90
R6150:Or3a4 UTSW 11 73,945,145 (GRCm39) missense probably benign 0.03
R6442:Or3a4 UTSW 11 73,945,505 (GRCm39) missense probably benign 0.00
R6687:Or3a4 UTSW 11 73,945,210 (GRCm39) missense probably damaging 0.99
R7195:Or3a4 UTSW 11 73,945,223 (GRCm39) missense probably damaging 1.00
R7942:Or3a4 UTSW 11 73,945,054 (GRCm39) missense probably damaging 1.00
R7957:Or3a4 UTSW 11 73,944,982 (GRCm39) missense probably damaging 1.00
R8052:Or3a4 UTSW 11 73,945,301 (GRCm39) missense probably benign 0.41
R8190:Or3a4 UTSW 11 73,945,305 (GRCm39) missense probably benign 0.01
R9316:Or3a4 UTSW 11 73,944,892 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07