Incidental Mutation 'IGL02858:Olfr943'
ID362028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr943
Ensembl Gene ENSMUSG00000094970
Gene Nameolfactory receptor 943
SynonymsGA_x6K02T2PVTD-32881408-32882343, MOR171-44
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02858
Quality Score
Status
Chromosome9
Chromosomal Location39166304-39192350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39184526 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 113 (Y113C)
Ref Sequence ENSEMBL: ENSMUSP00000148896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071617] [ENSMUST00000213176] [ENSMUST00000213507] [ENSMUST00000213830] [ENSMUST00000215770]
Predicted Effect probably damaging
Transcript: ENSMUST00000071617
AA Change: Y116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071545
Gene: ENSMUSG00000094970
AA Change: Y116C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 27 183 9.4e-7 PFAM
Pfam:7tm_4 34 311 7.4e-55 PFAM
Pfam:7tm_1 44 293 6.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213176
AA Change: Y113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213507
AA Change: Y113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213716
Predicted Effect probably damaging
Transcript: ENSMUST00000213830
AA Change: Y113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215770
AA Change: Y113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,769,034 V126A probably damaging Het
Akap9 T C 5: 4,069,130 Y3546H possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap45 C A 10: 80,017,934 T94N probably benign Het
Arid1b T C 17: 5,341,891 S1899P possibly damaging Het
Atad5 T A 11: 80,089,775 V2E probably damaging Het
Calr A T 8: 84,844,899 V155E probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cetn1 T C 18: 9,619,422 probably benign Het
Chl1 A T 6: 103,641,988 L6F probably damaging Het
Chrnb1 C T 11: 69,785,109 V436I possibly damaging Het
Col4a4 T C 1: 82,528,483 E292G unknown Het
Ddx56 A G 11: 6,267,667 L18P probably damaging Het
Dhx36 A C 3: 62,477,376 probably benign Het
Dnah5 A T 15: 28,453,212 R4376S possibly damaging Het
Dnah6 T A 6: 73,208,599 D113V probably benign Het
Dnah7a A G 1: 53,472,959 probably benign Het
Dock7 T A 4: 98,945,205 K1920* probably null Het
Dysf A G 6: 84,099,489 D628G probably benign Het
Exoc3l2 A G 7: 19,495,184 I176V probably benign Het
Fcrl1 A G 3: 87,384,705 Y57C probably damaging Het
Fzd4 C T 7: 89,407,954 T403M probably damaging Het
Gpr171 A T 3: 59,097,867 N162K probably benign Het
Impdh1 T A 6: 29,206,925 K132* probably null Het
Itgb2l A T 16: 96,422,650 W730R possibly damaging Het
Jmjd8 T C 17: 25,830,160 F230S probably damaging Het
Krt72 G A 15: 101,782,121 T232M probably damaging Het
Lpin3 T C 2: 160,898,620 probably benign Het
Nup214 A C 2: 32,010,372 probably benign Het
Olfr740 A T 14: 50,453,050 probably benign Het
Olfr77 A G 9: 19,920,451 M81V probably damaging Het
Olfr898 A G 9: 38,349,173 Q24R probably benign Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Sall3 G T 18: 80,969,513 A1236E probably damaging Het
Sipa1 T C 19: 5,655,708 T411A probably damaging Het
Thsd7a T G 6: 12,500,995 D471A probably benign Het
Tm2d1 T A 4: 98,374,955 E100D probably damaging Het
Tmcc1 A G 6: 116,133,888 V148A probably damaging Het
Tubgcp6 A T 15: 89,102,315 Y19* probably null Het
Ubr3 A G 2: 69,952,859 Y713C probably damaging Het
Uevld A G 7: 46,955,629 V39A probably benign Het
Vmn2r28 A T 7: 5,481,004 H732Q probably damaging Het
Zfp629 A T 7: 127,610,312 F775Y probably damaging Het
Other mutations in Olfr943
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Olfr943 APN 9 39185092 missense possibly damaging 0.93
IGL02890:Olfr943 APN 9 39184268 missense probably damaging 1.00
IGL02996:Olfr943 APN 9 39185065 missense probably damaging 1.00
R0334:Olfr943 UTSW 9 39184684 missense probably benign 0.01
R0881:Olfr943 UTSW 9 39184688 missense probably benign 0.00
R2474:Olfr943 UTSW 9 39184550 missense probably damaging 1.00
R3718:Olfr943 UTSW 9 39185065 missense probably damaging 1.00
R4358:Olfr943 UTSW 9 39184568 missense probably damaging 1.00
R4740:Olfr943 UTSW 9 39184368 nonsense probably null
R4763:Olfr943 UTSW 9 39184960 missense probably benign 0.15
R4788:Olfr943 UTSW 9 39184612 missense probably benign 0.15
R4824:Olfr943 UTSW 9 39184205 missense probably benign 0.02
R4866:Olfr943 UTSW 9 39185071 missense probably damaging 1.00
R5560:Olfr943 UTSW 9 39184184 missense probably benign 0.06
R6278:Olfr943 UTSW 9 39184298 missense probably damaging 1.00
R7003:Olfr943 UTSW 9 39184943 missense probably benign 0.01
R7721:Olfr943 UTSW 9 39184760 missense probably benign 0.00
Posted On2015-12-18