Incidental Mutation 'IGL01984:Or4k47'
ID 181818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k47
Ensembl Gene ENSMUSG00000094858
Gene Name olfactory receptor family 4 subfamily K member 47
Synonyms GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL01984
Quality Score
Status
Chromosome 2
Chromosomal Location 111451479-111452417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111451927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 164 (L164S)
Ref Sequence ENSEMBL: ENSMUSP00000150543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099612] [ENSMUST00000207283] [ENSMUST00000213398]
AlphaFold Q8VGE8
Predicted Effect probably benign
Transcript: ENSMUST00000099612
AA Change: L164S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: L164S

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.8e-48 PFAM
Pfam:7tm_1 41 287 6.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207283
AA Change: L164S
Predicted Effect probably benign
Transcript: ENSMUST00000213398
AA Change: L164S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,970,537 (GRCm39) L24F probably benign Het
Adamts16 T C 13: 70,935,266 (GRCm39) D442G probably damaging Het
Ankmy1 T C 1: 92,811,487 (GRCm39) T634A probably damaging Het
Anxa3 A T 5: 96,982,630 (GRCm39) probably benign Het
Ccnh T C 13: 85,354,270 (GRCm39) L202P probably damaging Het
Clcn3 A T 8: 61,382,614 (GRCm39) S325T probably damaging Het
Clec2d A T 6: 129,161,192 (GRCm39) E96D possibly damaging Het
Csn1s1 A T 5: 87,824,369 (GRCm39) probably benign Het
Dcun1d5 T A 9: 7,205,307 (GRCm39) Y189N possibly damaging Het
Dnah7a T C 1: 53,741,174 (GRCm39) probably null Het
Dpcd C T 19: 45,565,469 (GRCm39) H148Y probably benign Het
Efcab3 T A 11: 104,629,134 (GRCm39) D937E probably benign Het
Erg T G 16: 95,210,786 (GRCm39) D15A probably damaging Het
Gm21759 T A 5: 8,230,547 (GRCm39) probably benign Het
Heatr5b C T 17: 79,103,926 (GRCm39) R1083Q possibly damaging Het
Ints3 A G 3: 90,299,533 (GRCm39) S1012P possibly damaging Het
Klhl3 C T 13: 58,159,057 (GRCm39) probably benign Het
Lama4 T A 10: 38,951,525 (GRCm39) probably null Het
Magi1 A T 6: 93,685,155 (GRCm39) V740D probably damaging Het
Nme8 C A 13: 19,873,150 (GRCm39) V165L probably damaging Het
Odf2l G T 3: 144,845,590 (GRCm39) E5* probably null Het
Or14j4 T C 17: 37,934,552 (GRCm39) probably benign Het
Or56a5 A T 7: 104,792,923 (GRCm39) D192E probably benign Het
Pcnx4 T C 12: 72,621,183 (GRCm39) V1001A probably benign Het
Plaa A G 4: 94,459,922 (GRCm39) probably null Het
Prkdc G A 16: 15,526,643 (GRCm39) A1305T probably benign Het
Rnps1 T C 17: 24,643,371 (GRCm39) probably benign Het
St8sia5 T C 18: 77,336,157 (GRCm39) F197L probably benign Het
Sult3a1 G T 10: 33,755,205 (GRCm39) G257* probably null Het
Svep1 A C 4: 58,068,877 (GRCm39) Y2970D possibly damaging Het
Tns3 G T 11: 8,498,992 (GRCm39) Y30* probably null Het
Ubr1 G T 2: 120,751,867 (GRCm39) P791T probably damaging Het
Zfp592 T C 7: 80,688,392 (GRCm39) V1039A probably benign Het
Other mutations in Or4k47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Or4k47 APN 2 111,451,685 (GRCm39) missense probably damaging 1.00
IGL01305:Or4k47 APN 2 111,451,546 (GRCm39) missense probably damaging 1.00
IGL01903:Or4k47 APN 2 111,452,003 (GRCm39) missense probably benign 0.01
IGL03065:Or4k47 APN 2 111,451,535 (GRCm39) missense probably damaging 0.98
ANU22:Or4k47 UTSW 2 111,451,546 (GRCm39) missense probably damaging 1.00
R0313:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R0615:Or4k47 UTSW 2 111,452,264 (GRCm39) missense possibly damaging 0.95
R1028:Or4k47 UTSW 2 111,451,870 (GRCm39) missense probably damaging 1.00
R1078:Or4k47 UTSW 2 111,451,690 (GRCm39) missense probably damaging 1.00
R1158:Or4k47 UTSW 2 111,452,086 (GRCm39) missense probably damaging 1.00
R1419:Or4k47 UTSW 2 111,451,640 (GRCm39) missense probably benign 0.05
R1980:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R1981:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R2044:Or4k47 UTSW 2 111,452,159 (GRCm39) missense probably benign 0.02
R2080:Or4k47 UTSW 2 111,452,084 (GRCm39) missense probably benign
R2170:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R4494:Or4k47 UTSW 2 111,451,493 (GRCm39) nonsense probably null
R4965:Or4k47 UTSW 2 111,451,879 (GRCm39) missense probably damaging 1.00
R5175:Or4k47 UTSW 2 111,451,771 (GRCm39) missense possibly damaging 0.78
R5891:Or4k47 UTSW 2 111,451,778 (GRCm39) missense probably damaging 1.00
R6192:Or4k47 UTSW 2 111,451,520 (GRCm39) missense possibly damaging 0.91
R6383:Or4k47 UTSW 2 111,451,531 (GRCm39) missense probably benign 0.10
R6730:Or4k47 UTSW 2 111,452,080 (GRCm39) missense probably damaging 0.96
R7189:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.03
R7193:Or4k47 UTSW 2 111,451,600 (GRCm39) missense probably damaging 1.00
R7199:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.01
R7735:Or4k47 UTSW 2 111,451,819 (GRCm39) missense probably damaging 1.00
R8017:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8019:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8285:Or4k47 UTSW 2 111,452,390 (GRCm39) missense probably benign 0.32
R8419:Or4k47 UTSW 2 111,451,849 (GRCm39) missense probably benign 0.10
R9258:Or4k47 UTSW 2 111,452,329 (GRCm39) missense possibly damaging 0.77
X0063:Or4k47 UTSW 2 111,451,726 (GRCm39) missense probably benign 0.04
Z1176:Or4k47 UTSW 2 111,451,606 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07