Incidental Mutation 'IGL01346:Olfr1223'
ID75044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1223
Ensembl Gene ENSMUSG00000075100
Gene Nameolfactory receptor 1223
SynonymsMOR233-10, GA_x6K02T2Q125-50623664-50622729
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL01346
Quality Score
Status
Chromosome2
Chromosomal Location89143508-89151560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89144231 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 264 (F264S)
Ref Sequence ENSEMBL: ENSMUSP00000097381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099793
AA Change: F264S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: F264S

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111554
AA Change: F264S

PolyPhen 2 Score 0.060 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: F264S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.1e-48 PFAM
Pfam:7tm_1 39 286 1.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217342
AA Change: F264S

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,311,060 V135A unknown Het
4930402H24Rik A G 2: 130,791,846 probably benign Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Ift88 A T 14: 57,444,405 E215D probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Ppt1 T A 4: 122,844,055 I62K probably damaging Het
Proser3 T C 7: 30,549,646 N7S probably benign Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tmco4 T C 4: 139,020,949 I280T probably damaging Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null Het
Other mutations in Olfr1223
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Olfr1223 APN 2 89144603 missense probably damaging 1.00
IGL01817:Olfr1223 APN 2 89144358 missense probably benign 0.01
IGL02669:Olfr1223 APN 2 89144220 nonsense probably null
IGL03270:Olfr1223 APN 2 89144745 missense probably damaging 0.98
R0062:Olfr1223 UTSW 2 89144622 missense possibly damaging 0.95
R0062:Olfr1223 UTSW 2 89144622 missense possibly damaging 0.95
R0304:Olfr1223 UTSW 2 89144764 nonsense probably null
R1651:Olfr1223 UTSW 2 89145002 missense probably damaging 1.00
R1971:Olfr1223 UTSW 2 89144734 nonsense probably null
R2006:Olfr1223 UTSW 2 89144897 missense probably benign 0.21
R2101:Olfr1223 UTSW 2 89144957 missense probably benign 0.03
R2410:Olfr1223 UTSW 2 89144555 missense possibly damaging 0.88
R3683:Olfr1223 UTSW 2 89145020 start codon destroyed probably null 1.00
R3685:Olfr1223 UTSW 2 89145020 start codon destroyed probably null 1.00
R3939:Olfr1223 UTSW 2 89144130 nonsense probably null
R6162:Olfr1223 UTSW 2 89144770 missense probably benign 0.00
Posted On2013-10-07