Incidental Mutation 'IGL01462:Or2a57'
ID 88004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2a57
Ensembl Gene ENSMUSG00000061210
Gene Name olfactory receptor family 2 subfamily A member 57
Synonyms GA_x6K02T2P3E9-4322325-4321360, Olfr47, MOR261-9, IB12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01462
Quality Score
Status
Chromosome 6
Chromosomal Location 43212544-43213509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43212559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000151056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078057] [ENSMUST00000215569]
AlphaFold Q8VF18
Predicted Effect possibly damaging
Transcript: ENSMUST00000078057
AA Change: T6A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077204
Gene: ENSMUSG00000061210
AA Change: T6A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.3e-62 PFAM
Pfam:7tm_1 40 289 4.6e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215569
AA Change: T6A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,871,247 (GRCm39) A30S probably benign Het
Aspg A G 12: 112,089,387 (GRCm39) T392A probably benign Het
Atp8b5 C A 4: 43,368,010 (GRCm39) Q878K possibly damaging Het
Ccdc85a G T 11: 28,526,506 (GRCm39) H339Q probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cog4 C T 8: 111,592,717 (GRCm39) T430M probably benign Het
Col6a5 A G 9: 105,823,274 (GRCm39) Y28H unknown Het
Cth A T 3: 157,610,804 (GRCm39) Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 (GRCm39) L84* probably null Het
Epha5 A T 5: 84,219,092 (GRCm39) I868N probably damaging Het
Ephb2 T C 4: 136,498,681 (GRCm39) N133D possibly damaging Het
Epor G A 9: 21,870,752 (GRCm39) P376L probably damaging Het
Gsdme A G 6: 50,204,354 (GRCm39) V201A possibly damaging Het
Hdgf G A 3: 87,821,831 (GRCm39) E149K possibly damaging Het
Lrrfip2 T C 9: 111,034,917 (GRCm39) probably null Het
Ly6g6d T C 17: 35,293,226 (GRCm39) I40V probably benign Het
Mlh3 G A 12: 85,313,510 (GRCm39) T892I probably benign Het
Mmp19 C T 10: 128,634,011 (GRCm39) T304I probably damaging Het
Mmp28 T C 11: 83,334,602 (GRCm39) D384G possibly damaging Het
Moxd1 T C 10: 24,120,286 (GRCm39) probably null Het
Mtcl3 T G 10: 29,024,254 (GRCm39) L390R probably damaging Het
Ncapg T C 5: 45,828,477 (GRCm39) V76A probably benign Het
Nos1 C T 5: 118,005,774 (GRCm39) R165C probably benign Het
Or1e1c T C 11: 73,265,578 (GRCm39) M1T probably null Het
Pik3c2a T A 7: 115,975,485 (GRCm39) H694L possibly damaging Het
Psme2 A G 14: 55,827,128 (GRCm39) L60P probably damaging Het
Ptpn23 A G 9: 110,237,175 (GRCm39) V4A probably benign Het
Rgr G T 14: 36,766,566 (GRCm39) T160K probably damaging Het
Serpind1 A G 16: 17,154,787 (GRCm39) I205V probably benign Het
Skap2 T C 6: 51,898,280 (GRCm39) Y150C probably damaging Het
Srsf9 T C 5: 115,470,187 (GRCm39) S122P probably damaging Het
Stox1 T G 10: 62,500,461 (GRCm39) I700L probably benign Het
Tada1 A G 1: 166,216,294 (GRCm39) D165G probably damaging Het
Traf5 A G 1: 191,731,828 (GRCm39) S338P probably benign Het
Trim39 G A 17: 36,574,617 (GRCm39) probably benign Het
Wbp2 G A 11: 115,972,066 (GRCm39) A130V possibly damaging Het
Zcchc17 T C 4: 130,230,902 (GRCm39) K96E probably benign Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Or2a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03277:Or2a57 APN 6 43,212,876 (GRCm39) missense probably damaging 1.00
R1334:Or2a57 UTSW 6 43,212,899 (GRCm39) missense probably benign 0.44
R2697:Or2a57 UTSW 6 43,213,060 (GRCm39) missense probably damaging 0.98
R3433:Or2a57 UTSW 6 43,212,607 (GRCm39) missense probably damaging 0.96
R4794:Or2a57 UTSW 6 43,212,629 (GRCm39) missense probably damaging 1.00
R4954:Or2a57 UTSW 6 43,213,318 (GRCm39) missense probably benign 0.02
R4993:Or2a57 UTSW 6 43,213,390 (GRCm39) missense possibly damaging 0.49
R6248:Or2a57 UTSW 6 43,212,838 (GRCm39) nonsense probably null
R7464:Or2a57 UTSW 6 43,213,228 (GRCm39) missense probably damaging 0.98
R7600:Or2a57 UTSW 6 43,212,770 (GRCm39) missense probably damaging 1.00
R7984:Or2a57 UTSW 6 43,212,730 (GRCm39) missense probably damaging 1.00
R8189:Or2a57 UTSW 6 43,213,013 (GRCm39) missense probably benign 0.03
R8430:Or2a57 UTSW 6 43,212,894 (GRCm39) missense probably benign 0.06
R8967:Or2a57 UTSW 6 43,213,073 (GRCm39) missense probably damaging 1.00
R8975:Or2a57 UTSW 6 43,213,056 (GRCm39) missense probably benign 0.12
R9027:Or2a57 UTSW 6 43,213,358 (GRCm39) missense possibly damaging 0.70
Posted On 2013-11-18