Incidental Mutation 'IGL03220:Olfr1449'
ID413596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1449
Ensembl Gene ENSMUSG00000049498
Gene Nameolfactory receptor 1449
SynonymsGA_x6K02T2RE5P-3264213-3265157, MOR202-34
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03220
Quality Score
Status
Chromosome19
Chromosomal Location12930840-12935752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 12935494 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 252 (Y252S)
Ref Sequence ENSEMBL: ENSMUSP00000148934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056005] [ENSMUST00000208624] [ENSMUST00000214079] [ENSMUST00000215325]
Predicted Effect probably damaging
Transcript: ENSMUST00000056005
AA Change: Y252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: Y252S

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.5e-53 PFAM
Pfam:7tm_1 42 290 3.7e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208624
AA Change: Y252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214079
AA Change: Y252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215325
AA Change: Y252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Ahctf1 T A 1: 179,788,202 E368D probably benign Het
AI481877 G A 4: 59,082,378 Q417* probably null Het
Arid2 A T 15: 96,361,772 H271L probably damaging Het
Bsnd G T 4: 106,486,765 Q115K possibly damaging Het
Ceacam5 T A 7: 17,760,728 I887N probably damaging Het
Clrn2 T C 5: 45,463,728 F155L probably damaging Het
Col12a1 A G 9: 79,699,483 S553P probably damaging Het
Crnn C T 3: 93,149,367 H487Y possibly damaging Het
Ddi2 T C 4: 141,708,456 N90S probably benign Het
Deup1 T A 9: 15,592,411 I285L probably benign Het
Dlgap4 T C 2: 156,704,626 S405P probably damaging Het
Dnah11 A G 12: 118,105,985 F1560L probably benign Het
Dock1 T C 7: 135,108,522 probably null Het
Dst C A 1: 34,185,995 Q1161K probably damaging Het
Dus1l G T 11: 120,792,359 H280N probably damaging Het
Gm21985 C A 2: 112,357,484 H964N possibly damaging Het
Gzmd A T 14: 56,130,429 V129E probably damaging Het
Hmcn2 T A 2: 31,346,621 F392Y possibly damaging Het
Kdelr2 T A 5: 143,418,115 Y86* probably null Het
Kif26b T G 1: 178,864,869 C458W probably damaging Het
Lhpp G A 7: 132,650,291 V220I probably benign Het
Nfya T C 17: 48,400,493 N7S possibly damaging Het
Olfr1019 G T 2: 85,840,982 Q270K possibly damaging Het
Olfr1445 C T 19: 12,884,451 T190I possibly damaging Het
Prkg1 A T 19: 30,569,237 probably benign Het
Prpf6 A G 2: 181,632,879 E383G probably damaging Het
Ptpn21 A T 12: 98,678,623 V1153E probably damaging Het
Ryr1 A T 7: 29,059,855 I3330N probably damaging Het
Sgk1 A G 10: 21,997,391 D252G probably null Het
Shcbp1l T C 1: 153,433,165 probably benign Het
Skida1 T C 2: 18,048,161 D60G probably damaging Het
Slc9a5 T A 8: 105,368,020 C748S probably benign Het
Smc4 A T 3: 69,009,542 Y163F possibly damaging Het
Spdya T C 17: 71,578,291 S247P possibly damaging Het
Sptb T C 12: 76,612,910 D1072G probably benign Het
St7l A T 3: 104,874,823 probably benign Het
Trmt1l T C 1: 151,440,941 probably benign Het
Tspan4 A G 7: 141,491,799 Y153C probably damaging Het
Ulk4 A T 9: 121,145,336 N944K probably damaging Het
Unc80 T C 1: 66,504,938 C407R probably damaging Het
Zfp563 T G 17: 33,104,687 S85R probably benign Het
Zp2 A C 7: 120,137,227 L331R possibly damaging Het
Other mutations in Olfr1449
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Olfr1449 APN 19 12935562 missense probably damaging 0.98
IGL01943:Olfr1449 APN 19 12935674 missense probably benign 0.24
IGL02966:Olfr1449 APN 19 12934800 missense probably benign 0.08
IGL02974:Olfr1449 APN 19 12935035 missense probably benign 0.02
PIT4531001:Olfr1449 UTSW 19 12935277 missense probably damaging 0.98
R0285:Olfr1449 UTSW 19 12935172 missense probably benign 0.00
R0573:Olfr1449 UTSW 19 12935260 missense possibly damaging 0.77
R0588:Olfr1449 UTSW 19 12934747 missense probably benign 0.00
R0726:Olfr1449 UTSW 19 12935605 missense probably damaging 1.00
R1006:Olfr1449 UTSW 19 12935274 missense probably damaging 1.00
R1146:Olfr1449 UTSW 19 12934965 missense possibly damaging 0.77
R1146:Olfr1449 UTSW 19 12934965 missense possibly damaging 0.77
R1386:Olfr1449 UTSW 19 12935139 missense probably benign 0.17
R1735:Olfr1449 UTSW 19 12934843 missense probably damaging 1.00
R1794:Olfr1449 UTSW 19 12934968 missense probably damaging 0.97
R2355:Olfr1449 UTSW 19 12935019 missense possibly damaging 0.91
R2511:Olfr1449 UTSW 19 12935173 missense possibly damaging 0.85
R4673:Olfr1449 UTSW 19 12935097 missense probably damaging 1.00
R4749:Olfr1449 UTSW 19 12935217 missense probably benign 0.02
R4765:Olfr1449 UTSW 19 12935076 missense possibly damaging 0.65
R5112:Olfr1449 UTSW 19 12934816 missense probably benign 0.01
R5958:Olfr1449 UTSW 19 12935047 missense probably damaging 1.00
R6115:Olfr1449 UTSW 19 12935584 missense possibly damaging 0.54
R6152:Olfr1449 UTSW 19 12935487 missense probably benign 0.13
R6417:Olfr1449 UTSW 19 12935220 missense probably damaging 1.00
R6420:Olfr1449 UTSW 19 12935220 missense probably damaging 1.00
R6695:Olfr1449 UTSW 19 12935400 missense possibly damaging 0.95
R6963:Olfr1449 UTSW 19 12935638 missense probably damaging 0.96
Posted On2016-08-02