Incidental Mutation 'IGL02543:Olfr8'
ID 298269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr8
Ensembl Gene ENSMUSG00000094080
Gene Name olfactory receptor 8
Synonyms MOR139-5P, GA_x6K02T2QGN0-2857086-2856154
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02543
Quality Score
Status
Chromosome 10
Chromosomal Location 78950636-78958378 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78955939 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 245 (H245N)
Ref Sequence ENSEMBL: ENSMUSP00000148856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]
AlphaFold Q60892
Predicted Effect probably damaging
Transcript: ENSMUST00000081571
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: H245N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203851
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: H245N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214952
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216819
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,918,095 A193S probably damaging Het
Adcy4 T C 14: 55,769,170 T1069A probably benign Het
Arg2 A T 12: 79,150,759 I184F probably benign Het
Asb18 G A 1: 90,014,391 P63S probably damaging Het
Cd163l1 A G 7: 140,220,578 M91V probably benign Het
Cep85 T C 4: 134,156,323 H85R possibly damaging Het
Chfr A G 5: 110,143,547 probably null Het
Cog2 A G 8: 124,529,959 N148S probably benign Het
Csgalnact1 T C 8: 68,461,068 T162A probably damaging Het
Ddi1 C T 9: 6,266,183 G62D possibly damaging Het
Dhx33 T C 11: 70,987,240 Y435C probably damaging Het
Dsc3 A T 18: 19,965,828 C765S probably benign Het
Egfem1 T A 3: 29,668,380 D362E probably benign Het
Gm10093 A G 17: 78,491,874 E98G probably damaging Het
Gm28040 A T 1: 133,319,331 I26F possibly damaging Het
Gm28778 T C 1: 53,299,043 M22T probably benign Het
Hipk2 A G 6: 38,703,501 I968T possibly damaging Het
Hlx T G 1: 184,730,751 S235R probably damaging Het
Jag1 T C 2: 137,091,947 probably benign Het
Kdr A G 5: 75,964,947 probably benign Het
Klhl3 T C 13: 58,018,871 E435G probably damaging Het
L3mbtl4 T C 17: 68,461,612 probably benign Het
Large1 T A 8: 73,048,414 M223L probably benign Het
Lrp1b T C 2: 40,870,401 K2838E possibly damaging Het
Ncan T C 8: 70,108,571 D582G probably benign Het
Nedd9 T C 13: 41,316,735 D314G probably damaging Het
Nip7 T C 8: 107,058,193 probably benign Het
Olfr1408 T G 1: 173,130,334 K294N probably damaging Het
Olfr629 A T 7: 103,740,503 C246S possibly damaging Het
P3h1 T C 4: 119,237,856 probably benign Het
Pcp4l1 C T 1: 171,175,564 probably benign Het
Plekhm2 C T 4: 141,642,019 G118D probably benign Het
Prkg1 T C 19: 30,624,734 D374G possibly damaging Het
Ptcd1 A G 5: 145,154,687 L534P possibly damaging Het
Rnf123 A G 9: 108,066,348 S563P probably damaging Het
Sdk2 A T 11: 113,868,921 I418N possibly damaging Het
Slc26a4 A G 12: 31,528,689 I655T possibly damaging Het
Syne1 T C 10: 5,043,618 K524R probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tbc1d22a C T 15: 86,239,171 A135V probably benign Het
Tenm3 A C 8: 48,298,956 W942G probably damaging Het
Thsd7b G A 1: 130,165,103 V1247I probably benign Het
Treml1 A G 17: 48,360,431 T115A possibly damaging Het
Ttn T C 2: 76,709,962 T34227A probably benign Het
Ugt2b38 T A 5: 87,423,483 D230V probably benign Het
Vmn1r203 G A 13: 22,524,904 G285D probably damaging Het
Vmn2r76 A G 7: 86,230,148 S315P probably benign Het
Vmn2r98 T G 17: 19,065,821 S194A probably benign Het
Wdr1 G A 5: 38,545,822 S137F probably damaging Het
Wnt7b C T 15: 85,558,896 probably benign Het
Zfp668 A T 7: 127,868,322 C27* probably null Het
Other mutations in Olfr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Olfr8 APN 10 78955354 missense possibly damaging 0.48
IGL01480:Olfr8 APN 10 78956144 utr 3 prime probably benign
IGL02505:Olfr8 APN 10 78955933 missense probably benign 0.02
IGL03323:Olfr8 APN 10 78955600 missense probably benign
PIT4466001:Olfr8 UTSW 10 78955842 missense probably benign 0.00
R1496:Olfr8 UTSW 10 78955848 missense probably benign 0.41
R1754:Olfr8 UTSW 10 78955697 missense probably damaging 0.99
R1878:Olfr8 UTSW 10 78955805 missense possibly damaging 0.62
R2760:Olfr8 UTSW 10 78956042 missense probably damaging 0.99
R4202:Olfr8 UTSW 10 78955295 missense probably benign
R4206:Olfr8 UTSW 10 78955283 missense probably benign 0.00
R4517:Olfr8 UTSW 10 78956043 nonsense probably null
R4613:Olfr8 UTSW 10 78956065 missense probably damaging 1.00
R4799:Olfr8 UTSW 10 78956097 missense probably null 0.92
R4979:Olfr8 UTSW 10 78955932 nonsense probably null
R5008:Olfr8 UTSW 10 78956071 missense probably damaging 1.00
R5700:Olfr8 UTSW 10 78955484 missense probably damaging 1.00
R5876:Olfr8 UTSW 10 78955357 missense probably benign 0.15
R6439:Olfr8 UTSW 10 78955984 missense probably damaging 1.00
R6930:Olfr8 UTSW 10 78955781 missense possibly damaging 0.84
R7110:Olfr8 UTSW 10 78955450 missense possibly damaging 0.83
R7405:Olfr8 UTSW 10 78955697 missense probably benign 0.14
R7524:Olfr8 UTSW 10 78955491 nonsense probably null
R8198:Olfr8 UTSW 10 78955724 missense probably damaging 0.97
R9227:Olfr8 UTSW 10 78956095 missense possibly damaging 0.92
R9230:Olfr8 UTSW 10 78956095 missense possibly damaging 0.92
Z1176:Olfr8 UTSW 10 78955219 missense probably damaging 1.00
Posted On 2015-04-16