Incidental Mutation 'IGL03182:Olfr948'
ID412274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr948
Ensembl Gene ENSMUSG00000057349
Gene Nameolfactory receptor 948
SynonymsMOR171-45, GA_x6K02T2PVTD-33016899-33015934, MOR171-51
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03182
Quality Score
Status
Chromosome9
Chromosomal Location39315712-39326045 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39318981 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 211 (M211K)
Ref Sequence ENSEMBL: ENSMUSP00000149422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076516] [ENSMUST00000216132]
Predicted Effect probably benign
Transcript: ENSMUST00000076516
AA Change: M211K

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: M211K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-49 PFAM
Pfam:7tm_1 41 290 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216132
AA Change: M211K

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
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
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign Het
Other mutations in Olfr948
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Olfr948 APN 9 39318832 nonsense probably null
IGL02297:Olfr948 APN 9 39318703 missense possibly damaging 0.64
IGL02678:Olfr948 APN 9 39318921 missense probably benign 0.01
R0116:Olfr948 UTSW 9 39318864 missense probably damaging 1.00
R0152:Olfr948 UTSW 9 39319461 missense probably benign 0.32
R0227:Olfr948 UTSW 9 39318678 missense probably benign 0.00
R0317:Olfr948 UTSW 9 39319461 missense probably benign 0.32
R2151:Olfr948 UTSW 9 39319117 missense probably damaging 0.97
R2210:Olfr948 UTSW 9 39318793 missense probably damaging 1.00
R2974:Olfr948 UTSW 9 39318996 missense probably damaging 1.00
R4716:Olfr948 UTSW 9 39319429 missense probably benign 0.22
R4886:Olfr948 UTSW 9 39319585 missense probably benign 0.01
R5058:Olfr948 UTSW 9 39318664 missense probably benign
R5339:Olfr948 UTSW 9 39319303 missense possibly damaging 0.94
R6431:Olfr948 UTSW 9 39318778 missense possibly damaging 0.50
R6736:Olfr948 UTSW 9 39318793 missense probably damaging 1.00
R6902:Olfr948 UTSW 9 39319019 missense probably damaging 1.00
R6946:Olfr948 UTSW 9 39319019 missense probably damaging 1.00
R8303:Olfr948 UTSW 9 39319393 missense probably damaging 1.00
R8314:Olfr948 UTSW 9 39319305 missense probably damaging 1.00
R8413:Olfr948 UTSW 9 39319105 nonsense probably null
R8784:Olfr948 UTSW 9 39318693 missense probably benign 0.00
Posted On2016-08-02