Incidental Mutation 'IGL03107:Or8g54'
ID 419001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8g54
Ensembl Gene ENSMUSG00000094254
Gene Name olfactory receptor family 8 subfamily G member 54
Synonyms MOR171-7, Olfr969, GA_x6K02T2PVTD-33492981-33493916
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL03107
Quality Score
Status
Chromosome 9
Chromosomal Location 39706673-39707608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39707475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 268 (M268R)
Ref Sequence ENSEMBL: ENSMUSP00000149551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074566] [ENSMUST00000213266]
AlphaFold Q8VG89
Predicted Effect probably benign
Transcript: ENSMUST00000074566
AA Change: M268R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: M268R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-50 PFAM
Pfam:7tm_1 41 290 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213266
AA Change: M268R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Or8g54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Or8g54 APN 9 39,706,674 (GRCm39) start codon destroyed probably null 1.00
IGL02108:Or8g54 APN 9 39,706,808 (GRCm39) missense probably damaging 0.99
IGL02999:Or8g54 APN 9 39,706,752 (GRCm39) missense probably damaging 1.00
IGL03089:Or8g54 APN 9 39,706,977 (GRCm39) missense probably benign 0.18
R1232:Or8g54 UTSW 9 39,707,264 (GRCm39) missense probably benign 0.18
R1682:Or8g54 UTSW 9 39,706,954 (GRCm39) nonsense probably null
R1796:Or8g54 UTSW 9 39,707,301 (GRCm39) missense possibly damaging 0.82
R2152:Or8g54 UTSW 9 39,706,943 (GRCm39) missense probably benign 0.01
R4534:Or8g54 UTSW 9 39,707,296 (GRCm39) missense probably benign 0.00
R4941:Or8g54 UTSW 9 39,707,160 (GRCm39) missense possibly damaging 0.78
R5239:Or8g54 UTSW 9 39,707,492 (GRCm39) missense probably damaging 0.99
R5602:Or8g54 UTSW 9 39,707,490 (GRCm39) missense possibly damaging 0.94
R6681:Or8g54 UTSW 9 39,706,710 (GRCm39) missense probably benign 0.02
R6819:Or8g54 UTSW 9 39,706,905 (GRCm39) missense probably benign 0.00
R7066:Or8g54 UTSW 9 39,707,420 (GRCm39) missense probably benign 0.00
R7138:Or8g54 UTSW 9 39,707,086 (GRCm39) nonsense probably null
R8995:Or8g54 UTSW 9 39,707,313 (GRCm39) missense possibly damaging 0.52
R9446:Or8g54 UTSW 9 39,707,342 (GRCm39) missense probably damaging 1.00
Z1176:Or8g54 UTSW 9 39,707,225 (GRCm39) missense possibly damaging 0.96
Posted On 2016-08-02