Incidental Mutation 'IGL01069:Olfr229'
ID51865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr229
Ensembl Gene ENSMUSG00000095390
Gene Nameolfactory receptor 229
SynonymsGA_x6K02T02EEW-227-373, MOR171-14, Olfr973, GA_x6K02T2PVTD-33608180-33608971
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01069
Quality Score
Status
Chromosome9
Chromosomal Location39907336-39912732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39910606 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 268 (M268L)
Ref Sequence ENSEMBL: ENSMUSP00000149063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076802] [ENSMUST00000214904]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076802
AA Change: M268L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076080
Gene: ENSMUSG00000095390
AA Change: M268L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.7e-51 PFAM
Pfam:7tm_1 41 290 7.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214904
AA Change: M268L

PolyPhen 2 Score 0.935 (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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700123K08Rik C T 5: 138,562,489 A215T probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apc2 G A 10: 80,311,986 C929Y probably damaging Het
Arap2 T C 5: 62,649,856 H1156R probably benign Het
Arhgap9 A G 10: 127,328,952 T582A probably damaging Het
Ccdc57 T A 11: 120,861,259 H832L probably benign Het
Ces3b T C 8: 105,091,574 S92P probably benign Het
Ces5a A G 8: 93,525,544 probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpb2 T A 14: 75,270,775 D225E probably damaging Het
Cpne8 C T 15: 90,615,110 probably null Het
Cux2 G A 5: 121,867,351 T924M possibly damaging Het
Dtl T A 1: 191,561,539 probably null Het
Dysf T A 6: 84,199,785 I1912N possibly damaging Het
Edc4 T A 8: 105,887,134 F369I probably benign Het
Fibcd1 T C 2: 31,821,519 E298G probably benign Het
Focad C A 4: 88,326,146 H788N unknown Het
Frem1 C T 4: 83,013,867 R199H probably benign Het
Gadl1 T C 9: 115,954,839 probably null Het
Hipk1 G A 3: 103,777,699 T200I possibly damaging Het
Ighv14-2 C T 12: 113,994,759 V21I possibly damaging Het
Kank4 A T 4: 98,778,395 I605N probably damaging Het
Krt88 T G 15: 101,453,627 *172G probably null Het
Lmf2 C A 15: 89,352,888 A408S probably benign Het
Lsm12 T C 11: 102,164,070 probably benign Het
Myo3b A G 2: 70,245,391 I580V probably benign Het
Myt1 T C 2: 181,825,956 M1061T probably damaging Het
Nup133 G A 8: 123,930,982 R405* probably null Het
Olfr1032 A G 2: 86,008,547 Y257C probably damaging Het
Olfr1377 A T 11: 50,985,003 I101F possibly damaging Het
Pcnx A G 12: 81,918,144 R362G probably benign Het
Pomt2 G T 12: 87,110,304 T747K probably damaging Het
Rgma G A 7: 73,417,491 A165T probably damaging Het
Rhbdf2 T C 11: 116,601,751 D437G possibly damaging Het
Rpl5 T C 5: 107,907,279 probably null Het
Rtkn2 A G 10: 68,041,664 D518G probably benign Het
Sclt1 T C 3: 41,741,991 probably benign Het
Sidt2 C T 9: 45,943,077 V616I possibly damaging Het
Ska2 A G 11: 87,109,265 probably benign Het
Slc13a4 C A 6: 35,268,882 L609F probably damaging Het
Sorbs3 T C 14: 70,191,155 E390G probably damaging Het
Syt15 T C 14: 34,224,924 V220A possibly damaging Het
Tob1 T C 11: 94,214,055 F139S probably damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Olfr229
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01880:Olfr229 APN 9 39909941 missense possibly damaging 0.95
IGL02142:Olfr229 APN 9 39910639 missense possibly damaging 0.75
IGL02366:Olfr229 APN 9 39909992 missense probably damaging 1.00
R0415:Olfr229 UTSW 9 39909983 missense probably damaging 1.00
R1383:Olfr229 UTSW 9 39909864 missense probably benign 0.10
R1838:Olfr229 UTSW 9 39909841 missense possibly damaging 0.90
R3196:Olfr229 UTSW 9 39910460 missense probably damaging 0.99
R3951:Olfr229 UTSW 9 39910725 missense probably benign 0.40
R4984:Olfr229 UTSW 9 39910610 missense probably benign 0.14
R5771:Olfr229 UTSW 9 39910250 missense probably damaging 1.00
R7454:Olfr229 UTSW 9 39909904 missense probably benign 0.02
R7756:Olfr229 UTSW 9 39910325 missense possibly damaging 0.95
R7758:Olfr229 UTSW 9 39910325 missense possibly damaging 0.95
R7868:Olfr229 UTSW 9 39909986 missense probably benign
R7951:Olfr229 UTSW 9 39909986 missense probably benign
RF021:Olfr229 UTSW 9 39910045 missense probably benign 0.00
Posted On2013-06-21