Incidental Mutation 'IGL02982:Olfr1229'
ID 406602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1229
Ensembl Gene ENSMUSG00000075095
Gene Name olfactory receptor 1229
Synonyms MOR233-19, MOR233-22, GA_x6K02T2Q125-50727797-50726862
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02982
Quality Score
Status
Chromosome 2
Chromosomal Location 89280476-89288014 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89283109 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 29 (T29K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099788] [ENSMUST00000213883] [ENSMUST00000214593]
AlphaFold Q7TQZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000099788
AA Change: T8K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097376
Gene: ENSMUSG00000075095
AA Change: T8K

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2.9e-29 PFAM
Pfam:7tm_4 138 279 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111549
AA Change: T29K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107174
Gene: ENSMUSG00000075095
AA Change: T29K

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
Pfam:7tm_4 49 324 9.6e-51 PFAM
Pfam:7tm_1 60 307 7.3e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213883
AA Change: T8K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214593
AA Change: T8K

PolyPhen 2 Score 0.941 (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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Olfr1229
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1535:Olfr1229 UTSW 2 89283057 missense probably benign 0.14
R1610:Olfr1229 UTSW 2 89282821 missense probably damaging 1.00
R3896:Olfr1229 UTSW 2 89283097 missense possibly damaging 0.78
R4516:Olfr1229 UTSW 2 89282843 missense probably benign 0.05
R4922:Olfr1229 UTSW 2 89282467 missense possibly damaging 0.93
R4990:Olfr1229 UTSW 2 89283327 splice site probably null
R5267:Olfr1229 UTSW 2 89282230 nonsense probably null
R5271:Olfr1229 UTSW 2 89282953 missense probably benign 0.39
R5514:Olfr1229 UTSW 2 89282473 missense probably damaging 1.00
R5621:Olfr1229 UTSW 2 89282353 missense probably damaging 0.97
R7154:Olfr1229 UTSW 2 89282860 missense probably damaging 1.00
R7992:Olfr1229 UTSW 2 89282738 missense probably benign 0.01
R9028:Olfr1229 UTSW 2 89282332 missense probably damaging 1.00
Z1176:Olfr1229 UTSW 2 89282537 missense probably benign 0.03
Z1176:Olfr1229 UTSW 2 89282897 frame shift probably null
Posted On 2016-08-02