Incidental Mutation 'IGL03339:Or5b122'
ID 417132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b122
Ensembl Gene ENSMUSG00000096289
Gene Name olfactory receptor family 5 subfamily B member 122
Synonyms Olfr1484, MOR202-37, GA_x6K02T2RE5P-3917859-3918806
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03339
Quality Score
Status
Chromosome 19
Chromosomal Location 13562670-13563617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 13563439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 257 (M257R)
Ref Sequence ENSEMBL: ENSMUSP00000150779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074180] [ENSMUST00000207093] [ENSMUST00000208104] [ENSMUST00000215567] [ENSMUST00000216014] [ENSMUST00000217451] [ENSMUST00000216369]
AlphaFold Q8VEU6
Predicted Effect probably damaging
Transcript: ENSMUST00000074180
AA Change: M257R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
AA Change: M257R

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 7.4e-55 PFAM
Pfam:7TM_GPCR_Srsx 34 304 1.1e-5 PFAM
Pfam:7tm_1 40 289 3.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207093
AA Change: M257R
Predicted Effect possibly damaging
Transcript: ENSMUST00000208104
AA Change: M214R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208420
Predicted Effect probably damaging
Transcript: ENSMUST00000215567
AA Change: M257R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216014
AA Change: M257R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217451
AA Change: M257R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216369
AA Change: M214R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Or5b122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:Or5b122 APN 19 13,563,468 (GRCm39) missense probably benign 0.05
IGL02104:Or5b122 APN 19 13,562,968 (GRCm39) missense probably damaging 0.99
IGL02502:Or5b122 APN 19 13,563,112 (GRCm39) missense probably damaging 1.00
IGL03391:Or5b122 APN 19 13,563,483 (GRCm39) missense probably benign
R0008:Or5b122 UTSW 19 13,563,240 (GRCm39) missense probably benign 0.01
R0607:Or5b122 UTSW 19 13,563,534 (GRCm39) missense probably damaging 1.00
R0892:Or5b122 UTSW 19 13,562,881 (GRCm39) missense probably damaging 1.00
R1170:Or5b122 UTSW 19 13,563,577 (GRCm39) missense probably benign 0.00
R1605:Or5b122 UTSW 19 13,562,994 (GRCm39) missense probably benign 0.00
R1619:Or5b122 UTSW 19 13,562,978 (GRCm39) missense probably benign 0.03
R1793:Or5b122 UTSW 19 13,562,779 (GRCm39) missense probably benign 0.42
R2073:Or5b122 UTSW 19 13,562,965 (GRCm39) missense probably damaging 1.00
R2348:Or5b122 UTSW 19 13,563,553 (GRCm39) missense probably damaging 0.99
R5025:Or5b122 UTSW 19 13,562,886 (GRCm39) missense probably benign 0.03
R5383:Or5b122 UTSW 19 13,563,439 (GRCm39) missense probably damaging 0.99
R5771:Or5b122 UTSW 19 13,562,872 (GRCm39) missense probably damaging 0.98
R6002:Or5b122 UTSW 19 13,562,781 (GRCm39) start gained probably benign
R6992:Or5b122 UTSW 19 13,562,811 (GRCm39) missense possibly damaging 0.57
R7404:Or5b122 UTSW 19 13,562,752 (GRCm39) missense possibly damaging 0.88
R8358:Or5b122 UTSW 19 13,562,764 (GRCm39) missense probably damaging 0.97
R8939:Or5b122 UTSW 19 13,562,860 (GRCm39) missense probably damaging 0.96
RF002:Or5b122 UTSW 19 13,563,415 (GRCm39) missense probably damaging 1.00
X0019:Or5b122 UTSW 19 13,563,573 (GRCm39) missense probably damaging 1.00
X0019:Or5b122 UTSW 19 13,563,572 (GRCm39) missense probably null 0.00
X0040:Or5b122 UTSW 19 13,563,573 (GRCm39) missense probably damaging 1.00
X0040:Or5b122 UTSW 19 13,563,572 (GRCm39) missense probably null 0.00
X0067:Or5b122 UTSW 19 13,563,436 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02