Incidental Mutation 'IGL01972:Olfr996'
ID181647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr996
Ensembl Gene ENSMUSG00000111179
Gene Nameolfactory receptor 996
SynonymsGA_x6K02T2Q125-47058060-47059004, MOR175-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01972
Quality Score
Status
Chromosome2
Chromosomal Location85579215-85580282 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85579773 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 178 (F178S)
Ref Sequence ENSEMBL: ENSMUSP00000076330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077075]
Predicted Effect probably damaging
Transcript: ENSMUST00000077075
AA Change: F178S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076330
Gene: ENSMUSG00000111179
AA Change: F178S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-52 PFAM
Pfam:7tm_1 41 290 2.7e-16 PFAM
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Olfr996
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Olfr996 APN 2 85579531 nonsense probably null
IGL02102:Olfr996 APN 2 85579673 missense probably damaging 0.98
IGL03159:Olfr996 APN 2 85579940 missense probably damaging 0.99
R0539:Olfr996 UTSW 2 85579775 missense probably damaging 0.99
R4275:Olfr996 UTSW 2 85579863 missense probably benign 0.07
R4561:Olfr996 UTSW 2 85579620 missense probably damaging 0.99
R4953:Olfr996 UTSW 2 85579725 nonsense probably null
R5794:Olfr996 UTSW 2 85579341 missense probably benign 0.03
R6061:Olfr996 UTSW 2 85579542 missense possibly damaging 0.48
R6695:Olfr996 UTSW 2 85579449 missense probably damaging 1.00
R6981:Olfr996 UTSW 2 85579481 missense probably benign 0.06
R7030:Olfr996 UTSW 2 85579402 missense possibly damaging 0.56
R7399:Olfr996 UTSW 2 85579296 missense probably benign 0.00
Posted On2014-05-07