Incidental Mutation 'IGL01481:Or4a79'
ID 88592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a79
Ensembl Gene ENSMUSG00000110819
Gene Name olfactory receptor family 4 subfamily A member 79
Synonyms GA_x6K02T2Q125-51162884-51161940, Olfr1252, MOR231-22_p
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01481
Quality Score
Status
Chromosome 2
Chromosomal Location 89551509-89552453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89551870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 195 (L195P)
Ref Sequence ENSEMBL: ENSMUSP00000150304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000187990] [ENSMUST00000213196] [ENSMUST00000216203]
AlphaFold Q7TQZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000099766
AA Change: L195P

PolyPhen 2 Score 0.980 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: L195P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 6e-49 PFAM
Pfam:7tm_1 39 285 2.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186710
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: L195P

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000187990
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: L195P

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 2.7e-28 PFAM
Pfam:7tm_4 137 278 3.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213196
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216203
AA Change: L195P

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Or4a79
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Or4a79 UTSW 2 89,552,237 (GRCm39) missense probably benign 0.42
R1838:Or4a79 UTSW 2 89,552,053 (GRCm39) missense probably damaging 0.99
R1866:Or4a79 UTSW 2 89,551,550 (GRCm39) missense probably benign 0.00
R3835:Or4a79 UTSW 2 89,551,799 (GRCm39) missense possibly damaging 0.75
R4577:Or4a79 UTSW 2 89,552,387 (GRCm39) missense possibly damaging 0.80
R4675:Or4a79 UTSW 2 89,551,838 (GRCm39) missense probably benign
R4799:Or4a79 UTSW 2 89,551,706 (GRCm39) missense probably benign 0.24
R4845:Or4a79 UTSW 2 89,552,120 (GRCm39) missense probably benign 0.05
R5076:Or4a79 UTSW 2 89,551,745 (GRCm39) missense probably damaging 1.00
R5160:Or4a79 UTSW 2 89,551,763 (GRCm39) missense probably damaging 0.99
R5384:Or4a79 UTSW 2 89,551,649 (GRCm39) missense possibly damaging 0.94
R5418:Or4a79 UTSW 2 89,552,343 (GRCm39) missense probably benign
R5763:Or4a79 UTSW 2 89,552,372 (GRCm39) missense probably benign 0.00
R6997:Or4a79 UTSW 2 89,552,269 (GRCm39) missense possibly damaging 0.71
R7013:Or4a79 UTSW 2 89,551,730 (GRCm39) missense probably benign 0.20
R7500:Or4a79 UTSW 2 89,552,281 (GRCm39) missense possibly damaging 0.90
R7608:Or4a79 UTSW 2 89,551,642 (GRCm39) missense probably benign 0.42
R7671:Or4a79 UTSW 2 89,551,603 (GRCm39) missense probably damaging 1.00
R7781:Or4a79 UTSW 2 89,551,879 (GRCm39) missense probably benign 0.38
R7841:Or4a79 UTSW 2 89,552,309 (GRCm39) missense probably benign 0.06
R7999:Or4a79 UTSW 2 89,552,344 (GRCm39) missense probably benign 0.06
R8147:Or4a79 UTSW 2 89,552,186 (GRCm39) missense probably damaging 1.00
R8882:Or4a79 UTSW 2 89,551,740 (GRCm39) nonsense probably null
X0064:Or4a79 UTSW 2 89,551,700 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18