Incidental Mutation 'IGL02888:Or2a5'
ID 363059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2a5
Ensembl Gene ENSMUSG00000043119
Gene Name olfactory receptor family 2 subfamily A member 5
Synonyms Olfr448, MOR261-13, GA_x6K02T2P3E9-4663051-4662119
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02888
Quality Score
Status
Chromosome 6
Chromosomal Location 42873387-42874319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42874263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 293 (N293D)
Ref Sequence ENSEMBL: ENSMUSP00000148884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058668] [ENSMUST00000213952] [ENSMUST00000214529]
AlphaFold Q8VES9
Predicted Effect probably damaging
Transcript: ENSMUST00000058668
AA Change: N293D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059195
Gene: ENSMUSG00000043119
AA Change: N293D

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.8e-61 PFAM
Pfam:7tm_1 40 289 5.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213952
AA Change: N293D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214529
AA Change: N293D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,610 (GRCm39) H345R probably damaging Het
Afap1l1 T A 18: 61,881,879 (GRCm39) Y272F probably damaging Het
AI661453 C A 17: 47,778,329 (GRCm39) probably benign Het
Ajap1 T G 4: 153,516,718 (GRCm39) I208L probably benign Het
Aldh3b2 G A 19: 4,030,083 (GRCm39) V356M probably benign Het
Angptl7 T A 4: 148,580,788 (GRCm39) probably benign Het
Atp2a3 G A 11: 72,867,954 (GRCm39) probably benign Het
Birc2 T C 9: 7,819,559 (GRCm39) D451G probably benign Het
Brpf3 G A 17: 29,047,365 (GRCm39) R1043H probably damaging Het
Cd177 A G 7: 24,457,862 (GRCm39) L132P probably damaging Het
Chsy3 A G 18: 59,543,067 (GRCm39) D735G probably benign Het
Cldn8 A T 16: 88,359,271 (GRCm39) I218K probably benign Het
Cltc T C 11: 86,648,123 (GRCm39) probably benign Het
Col22a1 T C 15: 71,718,068 (GRCm39) H619R unknown Het
Crxos G A 7: 15,636,855 (GRCm39) E143K possibly damaging Het
Dcp1b A G 6: 119,197,048 (GRCm39) probably benign Het
Ddc A G 11: 11,772,297 (GRCm39) probably benign Het
Dnajc13 A T 9: 104,057,261 (GRCm39) probably benign Het
Dnajc27 C T 12: 4,139,186 (GRCm39) H75Y possibly damaging Het
Fgd3 C T 13: 49,435,292 (GRCm39) probably null Het
Gcc2 A G 10: 58,130,650 (GRCm39) D1414G probably damaging Het
Gtf3c2 G A 5: 31,331,169 (GRCm39) P169L probably damaging Het
Ighv1-76 T A 12: 115,811,566 (GRCm39) S96C probably damaging Het
Lmbrd1 T A 1: 24,754,053 (GRCm39) I206K possibly damaging Het
Lypd5 A G 7: 24,052,044 (GRCm39) S120G probably damaging Het
Mgat4b T A 11: 50,123,159 (GRCm39) Y249N probably damaging Het
Msh4 A T 3: 153,602,550 (GRCm39) L32* probably null Het
Muc4 A G 16: 32,575,656 (GRCm39) probably benign Het
Myo6 A G 9: 80,177,013 (GRCm39) probably benign Het
Nenf T C 1: 191,042,118 (GRCm39) T113A probably benign Het
Nup85 A G 11: 115,469,626 (GRCm39) D75G possibly damaging Het
Nutm1 A T 2: 112,080,980 (GRCm39) L438Q probably damaging Het
Oas1h A T 5: 120,999,610 (GRCm39) I32F probably benign Het
Oasl1 G A 5: 115,075,241 (GRCm39) V434M probably damaging Het
Or9s27 T C 1: 92,516,925 (GRCm39) L291P probably damaging Het
Pde2a C A 7: 101,154,276 (GRCm39) H549Q probably damaging Het
Phkb G T 8: 86,662,101 (GRCm39) probably null Het
Pigm T C 1: 172,205,214 (GRCm39) C317R probably damaging Het
Ppl A T 16: 4,918,271 (GRCm39) S470R possibly damaging Het
Pramel14 G A 4: 143,720,669 (GRCm39) R91W probably benign Het
Slc13a4 A T 6: 35,245,775 (GRCm39) D623E probably benign Het
Stx11 A G 10: 12,817,359 (GRCm39) S122P possibly damaging Het
Sytl3 A G 17: 7,000,483 (GRCm39) T218A probably benign Het
Tango6 A G 8: 107,447,297 (GRCm39) D565G probably damaging Het
Tex14 T C 11: 87,418,738 (GRCm39) probably null Het
Tinag T C 9: 76,938,995 (GRCm39) D161G probably benign Het
Vcpip1 T C 1: 9,795,011 (GRCm39) D1120G probably damaging Het
Zfp446 G A 7: 12,713,255 (GRCm39) A98T probably damaging Het
Other mutations in Or2a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or2a5 APN 6 42,873,568 (GRCm39) missense probably damaging 1.00
R0830:Or2a5 UTSW 6 42,873,532 (GRCm39) missense probably benign 0.06
R1173:Or2a5 UTSW 6 42,874,285 (GRCm39) missense probably benign 0.11
R1846:Or2a5 UTSW 6 42,874,254 (GRCm39) missense probably damaging 0.99
R1913:Or2a5 UTSW 6 42,873,687 (GRCm39) missense probably damaging 0.97
R2178:Or2a5 UTSW 6 42,873,732 (GRCm39) missense probably benign
R3115:Or2a5 UTSW 6 42,873,784 (GRCm39) missense probably benign 0.01
R3116:Or2a5 UTSW 6 42,873,784 (GRCm39) missense probably benign 0.01
R4717:Or2a5 UTSW 6 42,874,158 (GRCm39) missense probably damaging 1.00
R5358:Or2a5 UTSW 6 42,873,454 (GRCm39) missense probably benign 0.11
R6249:Or2a5 UTSW 6 42,874,238 (GRCm39) missense probably damaging 0.98
R6860:Or2a5 UTSW 6 42,873,750 (GRCm39) missense probably benign 0.35
R7122:Or2a5 UTSW 6 42,874,024 (GRCm39) missense probably damaging 0.99
R8924:Or2a5 UTSW 6 42,873,964 (GRCm39) missense probably damaging 1.00
R8988:Or2a5 UTSW 6 42,874,201 (GRCm39) missense
R9507:Or2a5 UTSW 6 42,873,835 (GRCm39) missense probably benign
Posted On 2015-12-18