Incidental Mutation 'IGL02983:Or1x2'
ID 406631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1x2
Ensembl Gene ENSMUSG00000059397
Gene Name olfactory receptor family 1 subfamily X member 2
Synonyms GA_x6K02T2QP88-4411197-4410256, MOR126-1, Olfr54, F3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02983
Quality Score
Status
Chromosome 11
Chromosomal Location 50917831-50918772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50918207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
AlphaFold Q8VFE6
Predicted Effect probably damaging
Transcript: ENSMUST00000072152
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: V126A

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 3e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 306 8.8e-6 PFAM
Pfam:7tm_1 43 291 2.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215409
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217480
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,663 (GRCm39) N842S probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Brip1 T C 11: 86,029,950 (GRCm39) I565V probably benign Het
Camta2 C T 11: 70,562,848 (GRCm39) R959Q probably damaging Het
Cbln2 A G 18: 86,731,504 (GRCm39) E104G probably benign Het
Cdc42ep4 T C 11: 113,619,995 (GRCm39) K132R probably benign Het
Clcnka T A 4: 141,117,442 (GRCm39) I452F probably damaging Het
Clec4a3 T A 6: 122,944,526 (GRCm39) probably null Het
Crat A C 2: 30,294,538 (GRCm39) probably null Het
Cspp1 A G 1: 10,197,750 (GRCm39) K227R probably benign Het
Ddx1 A T 12: 13,273,863 (GRCm39) I588N probably damaging Het
Dip2b G T 15: 100,029,903 (GRCm39) R98L possibly damaging Het
Dock5 G A 14: 68,002,119 (GRCm39) P1617L probably damaging Het
Fa2h C T 8: 112,073,154 (GRCm39) probably null Het
Fezf1 T A 6: 23,247,871 (GRCm39) N68I probably damaging Het
Gabrb2 A T 11: 42,312,227 (GRCm39) L17F probably benign Het
Gm17078 T C 14: 51,848,647 (GRCm39) K30R probably benign Het
Gramd4 G A 15: 86,011,219 (GRCm39) V249M probably damaging Het
Kcnd2 A C 6: 21,216,554 (GRCm39) D86A probably damaging Het
Lrp1 T C 10: 127,386,068 (GRCm39) E3486G probably damaging Het
Ltb A G 17: 35,413,646 (GRCm39) D50G probably benign Het
Med18 A T 4: 132,186,997 (GRCm39) Y167* probably null Het
Nat14 G A 7: 4,927,127 (GRCm39) A100T probably damaging Het
Nscme3l A G 19: 5,553,209 (GRCm39) F191L possibly damaging Het
Nxph2 T C 2: 23,290,374 (GRCm39) V242A probably damaging Het
Or1j10 T A 2: 36,267,649 (GRCm39) I287N probably damaging Het
Or2a55-ps1 T C 6: 43,071,582 (GRCm39) noncoding transcript Het
Or6c219 T A 10: 129,781,058 (GRCm39) N291I probably damaging Het
Pramel15 T C 4: 144,099,697 (GRCm39) E356G probably benign Het
Rad21l A G 2: 151,497,040 (GRCm39) L358S probably damaging Het
Rasgef1c A G 11: 49,847,876 (GRCm39) T4A possibly damaging Het
Spata31d1a A G 13: 59,851,508 (GRCm39) S207P possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Szt2 T C 4: 118,222,976 (GRCm39) probably benign Het
Taf6 T C 5: 138,177,142 (GRCm39) T642A probably benign Het
Tmem30a A T 9: 79,678,725 (GRCm39) M277K possibly damaging Het
Vmn1r86 T C 7: 12,836,741 (GRCm39) D45G probably damaging Het
Xkr5 T C 8: 18,983,848 (GRCm39) I565V probably benign Het
Zfp526 C T 7: 24,923,840 (GRCm39) A33V probably benign Het
Other mutations in Or1x2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Or1x2 APN 11 50,918,416 (GRCm39) nonsense probably null
IGL01875:Or1x2 APN 11 50,918,202 (GRCm39) missense probably damaging 1.00
IGL01936:Or1x2 APN 11 50,918,162 (GRCm39) missense probably benign 0.02
IGL02165:Or1x2 APN 11 50,918,470 (GRCm39) missense probably benign 0.00
IGL02474:Or1x2 APN 11 50,918,192 (GRCm39) missense probably damaging 1.00
IGL02706:Or1x2 APN 11 50,918,091 (GRCm39) missense probably damaging 0.99
IGL03037:Or1x2 APN 11 50,918,117 (GRCm39) missense probably damaging 1.00
IGL03086:Or1x2 APN 11 50,918,557 (GRCm39) missense probably damaging 1.00
R0114:Or1x2 UTSW 11 50,918,431 (GRCm39) missense probably benign 0.34
R1201:Or1x2 UTSW 11 50,917,937 (GRCm39) missense probably damaging 0.99
R1353:Or1x2 UTSW 11 50,917,833 (GRCm39) start codon destroyed probably null 0.33
R1624:Or1x2 UTSW 11 50,917,952 (GRCm39) missense probably damaging 1.00
R1961:Or1x2 UTSW 11 50,918,302 (GRCm39) missense probably benign 0.00
R5318:Or1x2 UTSW 11 50,918,420 (GRCm39) missense probably benign 0.01
R5335:Or1x2 UTSW 11 50,918,161 (GRCm39) missense probably benign 0.00
R6409:Or1x2 UTSW 11 50,918,015 (GRCm39) missense probably damaging 1.00
R7097:Or1x2 UTSW 11 50,918,428 (GRCm39) missense probably benign 0.09
R8243:Or1x2 UTSW 11 50,918,138 (GRCm39) missense probably benign
Posted On 2016-08-02