Incidental Mutation 'IGL03107:Olfr123'
ID419015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr123
Ensembl Gene ENSMUSG00000045202
Gene Nameolfactory receptor 123
SynonymsMOR256-9, GA_x6K02T2PSCP-2255106-2256035
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03107
Quality Score
Status
Chromosome17
Chromosomal Location37793529-37798134 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37795788 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 115 (V115I)
Ref Sequence ENSEMBL: ENSMUSP00000149802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054748] [ENSMUST00000214770] [ENSMUST00000215168] [ENSMUST00000216051] [ENSMUST00000216478]
Predicted Effect probably benign
Transcript: ENSMUST00000054748
AA Change: V115I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: V115I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 23 163 2.9e-6 PFAM
Pfam:7tm_4 29 306 2.3e-44 PFAM
Pfam:7TM_GPCR_Srsx 33 144 2.4e-5 PFAM
Pfam:7tm_1 39 288 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174446
Predicted Effect probably benign
Transcript: ENSMUST00000214770
AA Change: V115I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000215168
Predicted Effect probably benign
Transcript: ENSMUST00000216051
AA Change: V115I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000216478
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
4931440F15Rik T A 11: 29,824,360 I366F probably damaging Het
A930003A15Rik T C 16: 19,883,768 noncoding transcript Het
Angpt4 A G 2: 151,943,422 M453V probably benign Het
Atr T A 9: 95,897,730 D1380E probably benign Het
Carmil1 A T 13: 24,094,455 M177K probably damaging Het
Cenpk T A 13: 104,242,772 I203N probably damaging Het
Cerk A T 15: 86,142,813 N165K probably benign Het
Col27a1 G A 4: 63,324,632 probably benign Het
Crb2 A T 2: 37,791,416 D757V probably benign Het
Csnk1a1 A G 18: 61,568,305 D91G probably damaging Het
Dnajc6 G T 4: 101,616,860 W486L probably damaging Het
Elmod1 C T 9: 53,934,223 probably benign Het
Ercc3 G T 18: 32,248,307 R392L possibly damaging Het
Fam135b C T 15: 71,463,561 V595I probably benign Het
Fermt1 A T 2: 132,933,139 S256T probably damaging Het
Fstl5 G T 3: 76,536,311 C321F probably damaging Het
Gpatch1 T G 7: 35,303,317 N256T probably benign Het
Gpd2 T A 2: 57,355,569 S425R probably damaging Het
Igkv4-57-1 T G 6: 69,544,590 M43L probably benign Het
Itgae A G 11: 73,113,601 Q238R probably damaging Het
Lats1 T A 10: 7,712,746 D1042E probably benign Het
Lcn8 G A 2: 25,655,365 G156D probably damaging Het
Loxl4 A C 19: 42,605,279 V224G probably benign Het
Lrp2 T A 2: 69,454,833 D3827V probably damaging Het
Neb C A 2: 52,183,825 R231S probably benign Het
Olfr1458 A T 19: 13,103,037 M89K probably benign Het
Olfr213 T G 6: 116,540,939 M162R possibly damaging Het
Olfr801 A G 10: 129,669,940 M193T probably benign Het
Olfr969 T G 9: 39,796,179 M268R probably benign Het
Pappa T G 4: 65,204,703 S758R probably damaging Het
Pced1a G A 2: 130,422,835 T61I possibly damaging Het
Pik3cg T C 12: 32,200,595 D731G probably damaging Het
Plxnb1 G A 9: 109,104,986 D761N probably benign Het
Pmp22 T C 11: 63,158,309 V126A probably benign Het
Ppp6r2 G T 15: 89,268,545 R296S probably damaging Het
Prkcq A C 2: 11,260,786 H438P probably damaging Het
Ryr1 T A 7: 29,075,199 Y2339F probably damaging Het
Scaper T C 9: 55,858,402 probably benign Het
Scp2 T A 4: 108,098,115 I144F probably benign Het
Secisbp2 T C 13: 51,652,757 probably null Het
Sema5a T A 15: 32,669,408 Y693N probably damaging Het
Sin3b T A 8: 72,753,585 I905K probably damaging Het
Slc13a3 T A 2: 165,437,307 M195L probably benign Het
Strada A G 11: 106,164,037 probably benign Het
Stx18 G A 5: 38,136,311 V294M probably damaging Het
Tbpl2 A T 2: 24,093,833 N197K probably benign Het
Tdrd9 A T 12: 112,042,840 H1060L probably damaging Het
Tm4sf5 G A 11: 70,505,397 V23M possibly damaging Het
Tmem54 C A 4: 129,110,912 L187I probably damaging Het
Tmprss5 A G 9: 49,113,228 H281R possibly damaging Het
Trim30c A G 7: 104,382,613 Y332H possibly damaging Het
Uba6 T A 5: 86,127,774 probably benign Het
Unc80 C A 1: 66,631,454 P1912Q probably damaging Het
Other mutations in Olfr123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Olfr123 APN 17 37795522 missense probably damaging 0.99
IGL03030:Olfr123 APN 17 37796271 missense probably damaging 1.00
R0329:Olfr123 UTSW 17 37795989 missense probably benign 0.01
R0330:Olfr123 UTSW 17 37795989 missense probably benign 0.01
R0524:Olfr123 UTSW 17 37795605 nonsense probably null
R0581:Olfr123 UTSW 17 37796102 missense probably damaging 1.00
R1288:Olfr123 UTSW 17 37795693 missense probably damaging 0.98
R1897:Olfr123 UTSW 17 37796184 missense probably benign 0.22
R3751:Olfr123 UTSW 17 37796232 missense possibly damaging 0.95
R3753:Olfr123 UTSW 17 37796232 missense possibly damaging 0.95
R3780:Olfr123 UTSW 17 37796004 missense probably damaging 1.00
R3947:Olfr123 UTSW 17 37796115 missense probably benign
R5925:Olfr123 UTSW 17 37795591 missense probably benign 0.00
R5987:Olfr123 UTSW 17 37796357 missense probably benign
R6369:Olfr123 UTSW 17 37795496 missense probably benign 0.02
R6891:Olfr123 UTSW 17 37795504 missense probably benign
R7320:Olfr123 UTSW 17 37796357 missense probably benign
R7997:Olfr123 UTSW 17 37796162 nonsense probably null
Posted On2016-08-02