Incidental Mutation 'IGL02858:Or8c20'
ID 362027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8c20
Ensembl Gene ENSMUSG00000094588
Gene Name olfactory receptor family 8 subfamily C member 20
Synonyms GA_x6K02T2PVTD-32037624-32038565, MOR170-3, Olfr898
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02858
Quality Score
Status
Chromosome 9
Chromosomal Location 38260381-38261331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38260469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 24 (Q24R)
Ref Sequence ENSEMBL: ENSMUSP00000149554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076504] [ENSMUST00000216304] [ENSMUST00000217063]
AlphaFold L7N1Z5
Predicted Effect probably benign
Transcript: ENSMUST00000076504
AA Change: Q30R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075824
Gene: ENSMUSG00000094588
AA Change: Q30R

DomainStartEndE-ValueType
Pfam:7tm_4 37 313 2.2e-47 PFAM
Pfam:7tm_1 47 313 1.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216304
AA Change: Q24R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217063
AA Change: Q24R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
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: 179,596,599 (GRCm39) V126A probably damaging Het
Akap9 T C 5: 4,119,130 (GRCm39) Y3546H possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap45 C A 10: 79,853,768 (GRCm39) T94N probably benign Het
Arid1b T C 17: 5,392,166 (GRCm39) S1899P possibly damaging Het
Atad5 T A 11: 79,980,601 (GRCm39) V2E probably damaging Het
Calr A T 8: 85,571,528 (GRCm39) V155E probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cetn1 T C 18: 9,619,422 (GRCm39) probably benign Het
Chl1 A T 6: 103,618,949 (GRCm39) L6F probably damaging Het
Chrnb1 C T 11: 69,675,935 (GRCm39) V436I possibly damaging Het
Col4a4 T C 1: 82,506,204 (GRCm39) E292G unknown Het
Ddx56 A G 11: 6,217,667 (GRCm39) L18P probably damaging Het
Dhx36 A C 3: 62,384,797 (GRCm39) probably benign Het
Dnah5 A T 15: 28,453,358 (GRCm39) R4376S possibly damaging Het
Dnah6 T A 6: 73,185,582 (GRCm39) D113V probably benign Het
Dnah7a A G 1: 53,512,118 (GRCm39) probably benign Het
Dock7 T A 4: 98,833,442 (GRCm39) K1920* probably null Het
Dysf A G 6: 84,076,471 (GRCm39) D628G probably benign Het
Exoc3l2 A G 7: 19,229,109 (GRCm39) I176V probably benign Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Fzd4 C T 7: 89,057,162 (GRCm39) T403M probably damaging Het
Gpr171 A T 3: 59,005,288 (GRCm39) N162K probably benign Het
Impdh1 T A 6: 29,206,924 (GRCm39) K132* probably null Het
Itgb2l A T 16: 96,223,850 (GRCm39) W730R possibly damaging Het
Jmjd8 T C 17: 26,049,134 (GRCm39) F230S probably damaging Het
Krt72 G A 15: 101,690,556 (GRCm39) T232M probably damaging Het
Lpin3 T C 2: 160,740,540 (GRCm39) probably benign Het
Nup214 A C 2: 31,900,384 (GRCm39) probably benign Het
Or11g7 A T 14: 50,690,507 (GRCm39) probably benign Het
Or7d10 A G 9: 19,831,747 (GRCm39) M81V probably damaging Het
Or8g26 A G 9: 39,095,822 (GRCm39) Y113C probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Sall3 G T 18: 81,012,728 (GRCm39) A1236E probably damaging Het
Sipa1 T C 19: 5,705,736 (GRCm39) T411A probably damaging Het
Thsd7a T G 6: 12,500,994 (GRCm39) D471A probably benign Het
Tm2d1 T A 4: 98,263,192 (GRCm39) E100D probably damaging Het
Tmcc1 A G 6: 116,110,849 (GRCm39) V148A probably damaging Het
Tubgcp6 A T 15: 88,986,518 (GRCm39) Y19* probably null Het
Ubr3 A G 2: 69,783,203 (GRCm39) Y713C probably damaging Het
Uevld A G 7: 46,605,377 (GRCm39) V39A probably benign Het
Vmn2r28 A T 7: 5,484,003 (GRCm39) H732Q probably damaging Het
Zfp629 A T 7: 127,209,484 (GRCm39) F775Y probably damaging Het
Other mutations in Or8c20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Or8c20 APN 9 38,261,101 (GRCm39) missense possibly damaging 0.95
IGL02477:Or8c20 APN 9 38,260,421 (GRCm39) missense probably benign 0.16
PIT4362001:Or8c20 UTSW 9 38,260,494 (GRCm39) missense probably benign 0.34
R0060:Or8c20 UTSW 9 38,260,808 (GRCm39) missense probably benign 0.23
R0518:Or8c20 UTSW 9 38,260,499 (GRCm39) missense probably damaging 0.99
R0521:Or8c20 UTSW 9 38,260,499 (GRCm39) missense probably damaging 0.99
R0622:Or8c20 UTSW 9 38,260,667 (GRCm39) missense possibly damaging 0.74
R0898:Or8c20 UTSW 9 38,260,738 (GRCm39) missense probably damaging 0.97
R1562:Or8c20 UTSW 9 38,260,658 (GRCm39) nonsense probably null
R3903:Or8c20 UTSW 9 38,260,954 (GRCm39) nonsense probably null
R4375:Or8c20 UTSW 9 38,260,465 (GRCm39) missense probably benign
R4459:Or8c20 UTSW 9 38,261,288 (GRCm39) missense probably damaging 1.00
R4762:Or8c20 UTSW 9 38,260,577 (GRCm39) missense probably damaging 1.00
R4943:Or8c20 UTSW 9 38,260,924 (GRCm39) missense probably damaging 1.00
R5033:Or8c20 UTSW 9 38,260,924 (GRCm39) missense probably damaging 1.00
R5442:Or8c20 UTSW 9 38,261,158 (GRCm39) missense probably benign 0.06
R5863:Or8c20 UTSW 9 38,261,083 (GRCm39) missense probably benign 0.09
R5988:Or8c20 UTSW 9 38,261,045 (GRCm39) missense probably benign 0.30
R7077:Or8c20 UTSW 9 38,261,266 (GRCm39) missense probably damaging 1.00
R7509:Or8c20 UTSW 9 38,260,868 (GRCm39) missense probably benign 0.26
R7709:Or8c20 UTSW 9 38,260,573 (GRCm39) missense probably benign 0.02
R9305:Or8c20 UTSW 9 38,260,381 (GRCm39) start codon destroyed probably benign 0.33
Posted On 2015-12-18