Incidental Mutation 'IGL01922:Olfr128'
ID180136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr128
Ensembl Gene ENSMUSG00000059030
Gene Nameolfactory receptor 128
SynonymsMOR218-13, GA_x6K02T2PSCP-2374126-2375048
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01922
Quality Score
Status
Chromosome17
Chromosomal Location37920548-37926801 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37923959 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 131 (H131L)
Ref Sequence ENSEMBL: ENSMUSP00000151065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080231] [ENSMUST00000216440]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080231
AA Change: H131L

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079121
Gene: ENSMUSG00000059030
AA Change: H131L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.1e-5 PFAM
Pfam:7tm_1 41 290 1.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216440
AA Change: H131L

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,821 K3204R unknown Het
Adam12 C A 7: 133,937,472 G104* probably null Het
Adamtsl1 A G 4: 86,249,902 K477R probably damaging Het
Arhgap35 A C 7: 16,564,255 V295G possibly damaging Het
Cacna1c A T 6: 118,652,668 I1234N probably damaging Het
Ccdc151 G T 9: 21,993,530 probably benign Het
Cntnap5c A G 17: 58,330,119 E997G possibly damaging Het
Cog6 T C 3: 52,986,425 N601S probably benign Het
Col28a1 G T 6: 8,158,133 D308E probably damaging Het
Cspg4 G A 9: 56,887,887 D969N probably damaging Het
Dhx8 G A 11: 101,739,807 V347I probably damaging Het
Dnah9 G T 11: 66,075,034 probably benign Het
Erap1 T C 13: 74,662,387 Y282H probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-T3 A G 17: 36,187,100 M307T possibly damaging Het
Ifi204 T C 1: 173,761,722 I48V possibly damaging Het
Myh1 T C 11: 67,210,466 probably null Het
Nphp1 T C 2: 127,780,069 Y46C possibly damaging Het
Olfr325 G A 11: 58,581,073 M76I probably benign Het
Piezo1 G T 8: 122,492,692 S1066R probably benign Het
Plekhh1 T C 12: 79,079,579 S1353P probably benign Het
Prl6a1 A T 13: 27,315,360 D37V possibly damaging Het
Scn4a A G 11: 106,339,152 probably null Het
Selenoo T C 15: 89,099,649 V585A probably benign Het
Tmf1 T C 6: 97,176,930 T61A probably benign Het
Tshz3 A G 7: 36,769,605 T340A probably damaging Het
Unc50 A G 1: 37,437,203 D148G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpc C T 6: 91,505,425 R192H probably damaging Het
Other mutations in Olfr128
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Olfr128 APN 17 37924286 missense probably damaging 1.00
R0427:Olfr128 UTSW 17 37923629 missense probably benign 0.00
R0462:Olfr128 UTSW 17 37923776 missense probably damaging 1.00
R0546:Olfr128 UTSW 17 37924338 nonsense probably null
R0760:Olfr128 UTSW 17 37924114 nonsense probably null
R0940:Olfr128 UTSW 17 37923700 missense probably damaging 0.98
R1898:Olfr128 UTSW 17 37923625 missense possibly damaging 0.91
R1935:Olfr128 UTSW 17 37924102 missense probably damaging 1.00
R2060:Olfr128 UTSW 17 37923880 missense probably benign 0.00
R4680:Olfr128 UTSW 17 37923922 missense probably damaging 1.00
R5165:Olfr128 UTSW 17 37924361 missense probably benign 0.14
R5526:Olfr128 UTSW 17 37924492 makesense probably null
R5594:Olfr128 UTSW 17 37923611 missense probably benign 0.00
R5751:Olfr128 UTSW 17 37923970 missense probably benign 0.44
R6330:Olfr128 UTSW 17 37923794 missense possibly damaging 0.77
R7123:Olfr128 UTSW 17 37923676 missense probably benign 0.33
R7354:Olfr128 UTSW 17 37924393 missense probably benign 0.00
R7827:Olfr128 UTSW 17 37923677 nonsense probably null
Z1177:Olfr128 UTSW 17 37923727 missense probably benign 0.02
Posted On2014-05-07