Incidental Mutation 'IGL00937:Olfr552'
ID27834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr552
Ensembl Gene ENSMUSG00000073973
Gene Nameolfactory receptor 552
SynonymsGA_x6K02T2PBJ9-5323062-5324015, MOR28-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL00937
Quality Score
Status
Chromosome7
Chromosomal Location102597770-102608125 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 102604357 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000150317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098223] [ENSMUST00000215712]
Predicted Effect probably null
Transcript: ENSMUST00000098223
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: M1K

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 6e-118 PFAM
Pfam:7TM_GPCR_Srsx 37 270 4.4e-8 PFAM
Pfam:7tm_1 43 294 9.6e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215712
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
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
Olfr448 T A 6: 42,896,634 F61Y probably damaging 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 Olfr552
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03061:Olfr552 APN 7 102604739 missense probably damaging 0.99
R0989:Olfr552 UTSW 7 102604483 missense probably damaging 1.00
R1513:Olfr552 UTSW 7 102605302 missense probably benign 0.09
R1969:Olfr552 UTSW 7 102604570 missense probably damaging 0.99
R3177:Olfr552 UTSW 7 102604576 missense possibly damaging 0.94
R3277:Olfr552 UTSW 7 102604576 missense possibly damaging 0.94
R4019:Olfr552 UTSW 7 102604642 missense probably damaging 1.00
R4028:Olfr552 UTSW 7 102605293 missense possibly damaging 0.62
R5216:Olfr552 UTSW 7 102604821 missense probably benign 0.00
R5444:Olfr552 UTSW 7 102604869 nonsense probably null
R5461:Olfr552 UTSW 7 102604408 missense probably damaging 0.99
R7706:Olfr552 UTSW 7 102604646 missense probably benign 0.12
R8348:Olfr552 UTSW 7 102605000 missense probably benign 0.01
R8448:Olfr552 UTSW 7 102605000 missense probably benign 0.01
Posted On2013-04-17