Incidental Mutation 'IGL01880:Olfr229'
ID179010
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: 0.117) question?
Stock #IGL01880
Quality Score
Status
Chromosome9
Chromosomal Location39907336-39912732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39909941 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 46 (I46N)
Ref Sequence ENSEMBL: ENSMUSP00000149063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076802] [ENSMUST00000214904]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076802
AA Change: I46N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076080
Gene: ENSMUSG00000095390
AA Change: I46N

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: I46N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C A 17: 33,066,716 V371L probably damaging Het
Abca5 T C 11: 110,293,263 T1003A probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Capn8 T C 1: 182,597,576 F143S probably damaging Het
Dnaaf2 A T 12: 69,190,037 L766I probably benign Het
Gle1 T A 2: 29,943,750 S386R possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Klrb1 A T 6: 128,712,319 V63E possibly damaging Het
Mettl1 A G 10: 127,044,623 H138R probably damaging Het
Olfr371 A G 8: 85,231,083 N196S probably benign Het
Ppp1r12b A G 1: 134,886,421 probably null Het
Shtn1 A C 19: 59,075,449 probably benign Het
Slc22a15 T C 3: 101,860,848 R503G probably benign Het
Smarcd2 G A 11: 106,266,677 R148W probably damaging Het
Ssc5d T A 7: 4,933,219 V488E probably damaging Het
Vmn2r57 A G 7: 41,400,195 I710T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps41 T G 13: 18,810,471 S163A probably benign Het
Zc3h6 C T 2: 129,017,378 L1110F probably damaging Het
Other mutations in Olfr229
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Olfr229 APN 9 39910606 missense possibly damaging 0.94
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 On2014-05-07