Incidental Mutation 'IGL00937:Olfr448'
ID27638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr448
Ensembl Gene ENSMUSG00000043119
Gene Nameolfactory receptor 448
SynonymsGA_x6K02T2P3E9-4663051-4662119, MOR261-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL00937
Quality Score
Status
Chromosome6
Chromosomal Location42890441-42899085 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42896634 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 61 (F61Y)
Ref Sequence ENSEMBL: ENSMUSP00000148884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058668] [ENSMUST00000213952] [ENSMUST00000214529]
Predicted Effect probably damaging
Transcript: ENSMUST00000058668
AA Change: F61Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059195
Gene: ENSMUSG00000043119
AA Change: F61Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.8e-61 PFAM
Pfam:7tm_1 40 289 5.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213952
AA Change: F61Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214529
AA Change: F61Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
Cc2d2a A T 5: 43,688,122 probably null Het
Cd34 A G 1: 194,960,114 E381G probably damaging Het
Chka A G 19: 3,892,189 E381G probably benign Het
Dennd1b T A 1: 139,170,239 C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 A227T probably benign Het
F13b T A 1: 139,517,360 probably benign Het
Hipk3 T C 2: 104,433,172 N933D possibly damaging Het
Mmp27 T C 9: 7,578,899 probably benign Het
Nod1 C T 6: 54,937,364 V815I probably benign Het
Olfr411 C T 11: 74,347,429 V52I probably benign Het
Olfr552 T A 7: 102,604,357 M1K probably null Het
Olfr555 T A 7: 102,659,348 S176T probably damaging Het
Olfr613 C A 7: 103,551,857 A24E probably damaging Het
Olfr697 T A 7: 106,741,157 Y259F probably damaging Het
Pms1 T A 1: 53,275,251 E45V possibly damaging Het
Prkcsh T C 9: 22,006,565 S126P possibly damaging Het
Pros1 A T 16: 62,910,045 L299F probably damaging Het
Scrn1 A G 6: 54,520,733 I291T probably benign Het
Slc15a2 A T 16: 36,751,880 Y676* probably null Het
Tenm2 A C 11: 36,024,623 V2028G probably damaging Het
Trpa1 T C 1: 14,880,277 probably benign Het
Other mutations in Olfr448
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02888:Olfr448 APN 6 42897329 missense probably damaging 1.00
R0830:Olfr448 UTSW 6 42896598 missense probably benign 0.06
R1173:Olfr448 UTSW 6 42897351 missense probably benign 0.11
R1846:Olfr448 UTSW 6 42897320 missense probably damaging 0.99
R1913:Olfr448 UTSW 6 42896753 missense probably damaging 0.97
R2178:Olfr448 UTSW 6 42896798 missense probably benign
R3115:Olfr448 UTSW 6 42896850 missense probably benign 0.01
R3116:Olfr448 UTSW 6 42896850 missense probably benign 0.01
R4717:Olfr448 UTSW 6 42897224 missense probably damaging 1.00
R5358:Olfr448 UTSW 6 42896520 missense probably benign 0.11
R6249:Olfr448 UTSW 6 42897304 missense probably damaging 0.98
R6860:Olfr448 UTSW 6 42896816 missense probably benign 0.35
R7122:Olfr448 UTSW 6 42897090 missense probably damaging 0.99
Posted On2013-04-17