Incidental Mutation 'IGL00937:Olfr613'
ID27833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr613
Ensembl Gene ENSMUSG00000078624
Gene Nameolfactory receptor 613
SynonymsMOR20-1, Olfr614, GA_x6K02T2PBJ9-6271959-6272393, GA_x6K02T2PBJ9-6275524-6276477, MOR20-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL00937
Quality Score
Status
Chromosome7
Chromosomal Location103548074-103555506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 103551857 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 24 (A24E)
Ref Sequence ENSEMBL: ENSMUSP00000149332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106888] [ENSMUST00000214173] [ENSMUST00000214345] [ENSMUST00000215673]
Predicted Effect probably damaging
Transcript: ENSMUST00000106888
AA Change: A24E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102501
Gene: ENSMUSG00000078624
AA Change: A24E

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 1.1e-99 PFAM
Pfam:7tm_1 42 293 5.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214173
AA Change: A24E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000214345
Predicted Effect probably benign
Transcript: ENSMUST00000215673
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,688,122 probably null Het
Cd34 A G 1: 194,960,114 E381G probably damaging Het
Chka A G 19: 3,892,189 E381G probably benign Het
Dennd1b T A 1: 139,170,239 C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 A227T probably benign Het
F13b T A 1: 139,517,360 probably benign Het
Hipk3 T C 2: 104,433,172 N933D possibly damaging Het
Mmp27 T C 9: 7,578,899 probably benign Het
Nod1 C T 6: 54,937,364 V815I probably benign Het
Olfr411 C T 11: 74,347,429 V52I probably benign Het
Olfr448 T A 6: 42,896,634 F61Y probably damaging Het
Olfr552 T A 7: 102,604,357 M1K probably null Het
Olfr555 T A 7: 102,659,348 S176T probably damaging Het
Olfr697 T A 7: 106,741,157 Y259F probably damaging Het
Pms1 T A 1: 53,275,251 E45V possibly damaging Het
Prkcsh T C 9: 22,006,565 S126P possibly damaging Het
Pros1 A T 16: 62,910,045 L299F probably damaging Het
Scrn1 A G 6: 54,520,733 I291T probably benign Het
Slc15a2 A T 16: 36,751,880 Y676* probably null Het
Tenm2 A C 11: 36,024,623 V2028G probably damaging Het
Trpa1 T C 1: 14,880,277 probably benign Het
Other mutations in Olfr613
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03009:Olfr613 APN 7 103552527 nonsense probably null
R0047:Olfr613 UTSW 7 103552322 missense probably damaging 1.00
R0047:Olfr613 UTSW 7 103552322 missense probably damaging 1.00
R1559:Olfr613 UTSW 7 103552165 missense possibly damaging 0.82
R2247:Olfr613 UTSW 7 103551890 splice site probably null
R4622:Olfr613 UTSW 7 103552154 missense probably benign 0.00
R4674:Olfr613 UTSW 7 103551976 missense probably damaging 1.00
R4675:Olfr613 UTSW 7 103551976 missense probably damaging 1.00
R5101:Olfr613 UTSW 7 103551943 missense probably damaging 1.00
R6396:Olfr613 UTSW 7 103552681 nonsense probably null
R6860:Olfr613 UTSW 7 103551868 missense probably benign
R7310:Olfr613 UTSW 7 103552685 missense probably damaging 1.00
R7318:Olfr613 UTSW 7 103552091 missense probably damaging 0.98
R7593:Olfr613 UTSW 7 103551749 unclassified probably benign
R8046:Olfr613 UTSW 7 103552377 missense possibly damaging 0.90
R8138:Olfr613 UTSW 7 103552059 missense probably benign 0.22
R8243:Olfr613 UTSW 7 103551998 missense probably damaging 1.00
Posted On2013-04-17