Incidental Mutation 'IGL01399:Olfr1446'
ID79563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1446
Ensembl Gene ENSMUSG00000057817
Gene Nameolfactory receptor 1446
SynonymsGA_x6K02T2RE5P-3220047-3219130, MOR202-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01399
Quality Score
Status
Chromosome19
Chromosomal Location12888266-12893524 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12890439 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 46 (M46K)
Ref Sequence ENSEMBL: ENSMUSP00000149198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081236] [ENSMUST00000207741] [ENSMUST00000216805]
Predicted Effect probably benign
Transcript: ENSMUST00000081236
AA Change: M46K

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: M46K

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207319
AA Change: M46K
Predicted Effect probably benign
Transcript: ENSMUST00000207741
AA Change: M46K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000216805
AA Change: M46K

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Asic4 T A 1: 75,469,146 N206K possibly damaging Het
Bsn A G 9: 108,107,187 Y3223H unknown Het
Btaf1 C T 19: 37,000,170 R1463* probably null Het
Ccdc146 A G 5: 21,294,613 I857T possibly damaging Het
Ccnf G A 17: 24,225,012 S594L probably damaging Het
Chd5 T C 4: 152,356,687 W195R probably damaging Het
Cntn1 A G 15: 92,305,144 Y769C probably damaging Het
Cwc22 T C 2: 77,917,064 E435G probably benign Het
Dct A G 14: 118,036,478 F339S probably damaging Het
Ddx54 G T 5: 120,623,903 E554* probably null Het
Dock3 G T 9: 106,993,471 S581R probably benign Het
Dst A G 1: 34,117,517 H176R probably benign Het
Emc8 A G 8: 120,659,006 M123T probably damaging Het
Evc T A 5: 37,333,013 D55V probably damaging Het
Gm5424 A G 10: 62,071,493 noncoding transcript Het
Gpr149 A T 3: 62,604,431 L49Q probably damaging Het
Hcfc1 C T X: 73,949,909 V1217I possibly damaging Het
Hoxa4 G T 6: 52,190,413 Q263K probably damaging Het
Ift172 T C 5: 31,266,248 E790G probably benign Het
Ipp A G 4: 116,515,187 N138D probably damaging Het
Isg20 A T 7: 78,920,088 T158S possibly damaging Het
Klf17 A G 4: 117,759,159 F325S probably damaging Het
Lilrb4a T C 10: 51,494,065 L233P probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Myh9 A T 15: 77,767,270 L1544Q probably damaging Het
Nexmif T A X: 104,087,180 D377V probably damaging Het
Nobox T C 6: 43,304,038 T501A probably benign Het
Noc3l T C 19: 38,815,655 D93G possibly damaging Het
Nrcam G T 12: 44,575,884 A938S probably benign Het
Nup205 T C 6: 35,219,689 I1120T possibly damaging Het
Olfr186 C T 16: 59,027,266 V214I probably benign Het
Ptpn3 T C 4: 57,225,775 D480G probably benign Het
Selenof C T 3: 144,596,908 T148I probably damaging Het
Sgce C A 6: 4,746,997 G31V probably damaging Het
Slc35e1 C A 8: 72,484,690 A325S probably damaging Het
Slc4a4 A G 5: 89,228,935 D1016G probably damaging Het
Synj2 T G 17: 6,009,771 C149W probably damaging Het
Tecpr1 A G 5: 144,208,593 probably null Het
Utp20 A G 10: 88,758,302 probably null Het
Vmn2r63 T A 7: 42,904,119 K571M probably damaging Het
Wdr53 A G 16: 32,251,900 D21G possibly damaging Het
Zbtb3 T C 19: 8,803,455 L144S probably damaging Het
Zfp185 T A X: 73,000,048 S154T probably damaging Het
Other mutations in Olfr1446
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Olfr1446 APN 19 12889918 missense probably benign 0.00
IGL01697:Olfr1446 APN 19 12890467 missense probably benign 0.24
IGL01739:Olfr1446 APN 19 12890149 missense probably benign 0.02
IGL01894:Olfr1446 APN 19 12889643 utr 3 prime probably benign
R0164:Olfr1446 UTSW 19 12890445 missense probably damaging 1.00
R0164:Olfr1446 UTSW 19 12890445 missense probably damaging 1.00
R1163:Olfr1446 UTSW 19 12890149 missense probably benign 0.02
R1769:Olfr1446 UTSW 19 12889683 missense probably damaging 1.00
R4406:Olfr1446 UTSW 19 12890234 nonsense probably null
R5038:Olfr1446 UTSW 19 12890406 missense probably damaging 1.00
R5207:Olfr1446 UTSW 19 12890437 missense probably benign 0.28
R5627:Olfr1446 UTSW 19 12890299 missense probably damaging 1.00
R5995:Olfr1446 UTSW 19 12890597 splice site probably null
R8043:Olfr1446 UTSW 19 12889731 missense probably damaging 1.00
R8254:Olfr1446 UTSW 19 12890485 missense probably benign 0.00
X0062:Olfr1446 UTSW 19 12890563 missense probably benign 0.42
Posted On2013-11-05