Incidental Mutation 'IGL02678:Olfr948'
ID303215
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: 0.055) question?
Stock #IGL02678
Quality Score
Status
Chromosome9
Chromosomal Location39315712-39326045 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 39318921 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 231 (S231N)
Ref Sequence ENSEMBL: ENSMUSP00000149422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076516] [ENSMUST00000216132]
Predicted Effect probably benign
Transcript: ENSMUST00000076516
AA Change: S231N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: S231N

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: S231N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,228,917 Y360C probably damaging Het
Aasdh A G 5: 76,888,020 probably benign Het
Adgrb1 A G 15: 74,538,328 E272G probably damaging Het
Alcam G A 16: 52,274,038 P416S probably damaging Het
B3galt1 A G 2: 68,118,910 H323R probably benign Het
Bahcc1 G A 11: 120,272,871 S665N probably damaging Het
Birc6 T C 17: 74,649,903 S3631P probably damaging Het
Capn3 A C 2: 120,502,998 N621T probably damaging Het
Ccdc162 G A 10: 41,561,155 H480Y probably damaging Het
Ccr2 T A 9: 124,106,746 D354E probably benign Het
Cdc42bpb T G 12: 111,326,096 D335A probably damaging Het
Chrd G T 16: 20,734,020 R89L probably damaging Het
Cops2 T C 2: 125,844,911 R91G probably benign Het
Ddi1 T C 9: 6,266,106 T88A probably benign Het
Dnaic1 A C 4: 41,602,917 E140A probably benign Het
Gcn1l1 A G 5: 115,613,755 D2063G probably damaging Het
Gdpd4 A T 7: 97,974,377 probably benign Het
Gif T C 19: 11,748,475 M43T probably damaging Het
Gm13212 A T 4: 145,622,497 H168L probably damaging Het
Gm2075 C A 12: 88,012,176 P110Q possibly damaging Het
Gm6614 A T 6: 142,008,718 Y10N probably damaging Het
Gng7 C A 10: 80,951,684 L48F probably damaging Het
Htt G T 5: 34,899,902 C2725F probably damaging Het
Inpp4b A G 8: 81,856,744 K159R probably damaging Het
Insr G T 8: 3,173,570 N854K probably benign Het
Ktn1 A T 14: 47,734,153 probably null Het
Lcat A G 8: 105,941,940 probably null Het
Mb21d2 T C 16: 28,828,049 E391G probably benign Het
Mms19 A G 19: 41,954,476 S354P possibly damaging Het
Mx2 G A 16: 97,556,120 probably null Het
Mycl G A 4: 122,999,983 R192Q probably damaging Het
Mzf1 A G 7: 13,052,909 V78A possibly damaging Het
Nipbl G T 15: 8,351,110 P733T possibly damaging Het
Nploc4 A G 11: 120,389,372 I450T probably benign Het
Omd A T 13: 49,592,281 E389V probably benign Het
Oxgr1 A G 14: 120,022,168 L209P probably damaging Het
Pak1 A C 7: 97,894,002 T291P probably damaging Het
Pcmtd1 T A 1: 7,169,821 I338K probably damaging Het
Phrf1 A G 7: 141,260,282 D364G probably damaging Het
Pomk G A 8: 25,983,107 P273S probably damaging Het
Psg22 A T 7: 18,719,493 I38F probably damaging Het
Rbks G T 5: 31,673,413 T42N probably damaging Het
Rrbp1 A G 2: 143,990,187 V20A probably damaging Het
Six4 T C 12: 73,112,634 Y176C probably damaging Het
Slc11a2 T A 15: 100,412,200 M9L possibly damaging Het
Slc16a11 T C 11: 70,215,416 L112S probably damaging Het
Slc25a28 A T 19: 43,667,147 probably benign Het
Slc30a3 G A 5: 31,088,332 R237* probably null Het
Smc1b G A 15: 85,065,000 R1237* probably null Het
Smtn T C 11: 3,526,353 E585G possibly damaging Het
Spatc1 A T 15: 76,292,372 D441V probably damaging Het
Tenm4 A G 7: 96,896,219 N2481D probably damaging Het
Tnks2 A T 19: 36,845,743 I137F possibly damaging Het
Trip11 T C 12: 101,883,390 K1472E probably damaging Het
Ttn C A 2: 76,878,316 E1846* probably null Het
Vwa8 A G 14: 78,984,200 D532G probably damaging Het
Zfp977 G A 7: 42,582,995 T14I probably damaging 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
IGL03182:Olfr948 APN 9 39318981 missense probably benign 0.16
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
Posted On2015-04-16