Incidental Mutation 'IGL03392:Or51ai2'
ID 421102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51ai2
Ensembl Gene ENSMUSG00000073938
Gene Name olfactory receptor family 51 subfamily AI member 2
Synonyms GA_x6K02T2PBJ9-6671256-6672209, MOR2-1, Olfr632
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL03392
Quality Score
Status
Chromosome 7
Chromosomal Location 103586589-103587542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103587232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000149598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098189] [ENSMUST00000214711]
AlphaFold Q9EPN9
Predicted Effect probably benign
Transcript: ENSMUST00000098189
AA Change: V215A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095791
Gene: ENSMUSG00000073938
AA Change: V215A

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2.5e-109 PFAM
Pfam:7TM_GPCR_Srsx 39 232 7.5e-11 PFAM
Pfam:7tm_1 45 296 1.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214509
Predicted Effect probably benign
Transcript: ENSMUST00000214711
AA Change: V215A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fer A G 17: 64,298,637 (GRCm39) I529V probably damaging Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Ipo5 T A 14: 121,180,099 (GRCm39) D844E probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or4f59 T A 2: 111,873,321 (GRCm39) N19Y probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Pus7l T C 15: 94,434,449 (GRCm39) D339G probably damaging Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Slc13a5 G A 11: 72,136,004 (GRCm39) T469I probably damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P probably damaging Het
Other mutations in Or51ai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Or51ai2 APN 7 103,586,782 (GRCm39) missense possibly damaging 0.88
IGL01817:Or51ai2 APN 7 103,587,030 (GRCm39) missense probably benign 0.01
IGL02303:Or51ai2 APN 7 103,586,770 (GRCm39) missense possibly damaging 0.62
R0092:Or51ai2 UTSW 7 103,586,934 (GRCm39) missense probably damaging 1.00
R0492:Or51ai2 UTSW 7 103,586,971 (GRCm39) missense probably benign 0.05
R0711:Or51ai2 UTSW 7 103,587,024 (GRCm39) missense probably benign 0.29
R2893:Or51ai2 UTSW 7 103,587,389 (GRCm39) missense probably damaging 1.00
R3911:Or51ai2 UTSW 7 103,586,616 (GRCm39) missense possibly damaging 0.94
R4825:Or51ai2 UTSW 7 103,586,710 (GRCm39) missense probably benign 0.02
R6106:Or51ai2 UTSW 7 103,587,400 (GRCm39) missense probably benign 0.05
R6254:Or51ai2 UTSW 7 103,586,741 (GRCm39) missense probably benign 0.07
R6383:Or51ai2 UTSW 7 103,587,030 (GRCm39) missense probably benign 0.01
R6821:Or51ai2 UTSW 7 103,586,793 (GRCm39) missense probably benign 0.07
R6890:Or51ai2 UTSW 7 103,587,066 (GRCm39) missense possibly damaging 0.71
R7646:Or51ai2 UTSW 7 103,587,504 (GRCm39) missense probably damaging 0.98
R8041:Or51ai2 UTSW 7 103,586,788 (GRCm39) missense probably damaging 1.00
R8232:Or51ai2 UTSW 7 103,586,980 (GRCm39) missense possibly damaging 0.65
R8266:Or51ai2 UTSW 7 103,586,746 (GRCm39) missense probably damaging 0.96
R8326:Or51ai2 UTSW 7 103,586,809 (GRCm39) missense probably damaging 1.00
R8783:Or51ai2 UTSW 7 103,586,751 (GRCm39) missense possibly damaging 0.92
Z1177:Or51ai2 UTSW 7 103,586,965 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02