Incidental Mutation 'IGL03197:Olfr1199'
ID412845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1199
Ensembl Gene ENSMUSG00000089892
Gene Nameolfactory receptor 1199
SynonymsMOR230-8, GA_x6K02T2Q125-50231574-50230642
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL03197
Quality Score
Status
Chromosome2
Chromosomal Location88754195-88760469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88756201 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 158 (I158K)
Ref Sequence ENSEMBL: ENSMUSP00000149809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099813] [ENSMUST00000124021] [ENSMUST00000131038] [ENSMUST00000213138] [ENSMUST00000215179] [ENSMUST00000215529]
Predicted Effect probably damaging
Transcript: ENSMUST00000099813
AA Change: I158K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: I158K

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.4e-48 PFAM
Pfam:7tm_1 39 285 4.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124021
AA Change: I158K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000131038
AA Change: I158K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213138
AA Change: I158K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000215179
Predicted Effect probably benign
Transcript: ENSMUST00000215529
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,971,802 W189R probably damaging Het
Abcb7 A T X: 104,284,191 M704K possibly damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Serpina3a C T 12: 104,116,241 A91V probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Slc15a3 T G 19: 10,855,079 probably null Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign Het
Other mutations in Olfr1199
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Olfr1199 APN 2 88756156 missense possibly damaging 0.83
R0282:Olfr1199 UTSW 2 88756456 missense probably damaging 1.00
R1564:Olfr1199 UTSW 2 88756656 missense possibly damaging 0.81
R1750:Olfr1199 UTSW 2 88755773 missense probably benign
R2139:Olfr1199 UTSW 2 88756093 missense probably damaging 1.00
R4059:Olfr1199 UTSW 2 88756451 missense probably benign
R4722:Olfr1199 UTSW 2 88756012 missense possibly damaging 0.47
R4787:Olfr1199 UTSW 2 88755875 nonsense probably null
R5595:Olfr1199 UTSW 2 88756405 missense probably damaging 0.97
R6522:Olfr1199 UTSW 2 88756108 missense probably damaging 0.99
R6825:Olfr1199 UTSW 2 88755911 missense possibly damaging 0.78
R8205:Olfr1199 UTSW 2 88756672 start codon destroyed probably null 0.94
Z1176:Olfr1199 UTSW 2 88755797 missense probably damaging 1.00
Posted On2016-08-02