Incidental Mutation 'R4845:Or4a79'
ID 372092
Institutional Source Beutler Lab
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
MMRRC Submission 042458-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.334) question?
Stock # R4845 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89551509-89552453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89552120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
Ref Sequence ENSEMBL: ENSMUSP00000150304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000187990] [ENSMUST00000213196] [ENSMUST00000216203]
AlphaFold Q7TQZ2
Predicted Effect probably benign
Transcript: ENSMUST00000186710
AA Change: I112V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I112V

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187990
AA Change: I112V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: I112V

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 2.7e-28 PFAM
Pfam:7tm_4 137 278 3.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213196
AA Change: I112V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216203
AA Change: I112V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,333,057 (GRCm39) S600F possibly damaging Het
Arhgap21 T A 2: 20,885,998 (GRCm39) N393I probably damaging Het
Atp5pf T A 16: 84,628,365 (GRCm39) I6F possibly damaging Het
B4galt6 A G 18: 20,821,517 (GRCm39) L337S probably benign Het
C8b G T 4: 104,649,009 (GRCm39) V308F possibly damaging Het
Cables1 A G 18: 12,077,545 (GRCm39) R558G probably damaging Het
Chmp2b T A 16: 65,347,862 (GRCm39) Q38L probably damaging Het
Clca3b A T 3: 144,531,031 (GRCm39) I773K probably benign Het
Cnmd T C 14: 79,899,448 (GRCm39) T2A probably benign Het
Crb1 C T 1: 139,170,772 (GRCm39) D812N probably benign Het
Dnah7c T A 1: 46,832,692 (GRCm39) D3901E probably damaging Het
Dst T C 1: 34,232,208 (GRCm39) V3445A probably benign Het
Epn1 T A 7: 5,096,908 (GRCm39) I230N possibly damaging Het
Exoc6b G T 6: 84,812,119 (GRCm39) D627E probably benign Het
Exosc1 T C 19: 41,919,797 (GRCm39) K74E possibly damaging Het
Extl3 T C 14: 65,315,024 (GRCm39) T53A probably benign Het
Fam227a C T 15: 79,533,912 (GRCm39) R17H probably damaging Het
Faxc G T 4: 21,993,358 (GRCm39) W334L probably damaging Het
Gabrr3 T C 16: 59,246,833 (GRCm39) I94T probably damaging Het
Ifi203 A T 1: 173,754,595 (GRCm39) M298K probably benign Het
Igkv4-78 A T 6: 69,037,207 (GRCm39) M1K probably null Het
Iqcm G T 8: 76,472,980 (GRCm39) R273I probably damaging Het
Itga1 G T 13: 115,110,708 (GRCm39) S961* probably null Het
Jmy T A 13: 93,576,246 (GRCm39) M886L possibly damaging Het
Lrp2 T C 2: 69,339,585 (GRCm39) T1109A possibly damaging Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Mettl14 T A 3: 123,165,004 (GRCm39) E112V probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Musk A G 4: 58,296,679 (GRCm39) D93G probably damaging Het
Myoc C T 1: 162,475,034 (GRCm39) T195M possibly damaging Het
Ncapg2 A G 12: 116,404,208 (GRCm39) D893G probably damaging Het
Nrap C T 19: 56,339,902 (GRCm39) V908M probably benign Het
Or52n5 T C 7: 104,588,570 (GRCm39) V279A possibly damaging Het
Or5g9 T A 2: 85,551,836 (GRCm39) L29* probably null Het
Orc4 T C 2: 48,799,478 (GRCm39) N333S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 G A 18: 37,489,771 (GRCm39) G483D probably benign Het
Pclo A T 5: 14,729,132 (GRCm39) probably benign Het
Ppm1k A T 6: 57,499,753 (GRCm39) Y174* probably null Het
Ptprq A T 10: 107,489,393 (GRCm39) S911T probably benign Het
Rp1 C A 1: 4,419,451 (GRCm39) A554S probably benign Het
Sema3f T C 9: 107,562,700 (GRCm39) Y427C probably damaging Het
Slc12a1 A T 2: 125,030,146 (GRCm39) I573F probably damaging Het
Slc17a1 A T 13: 24,060,601 (GRCm39) Y201F probably damaging Het
Slc4a7 A T 14: 14,733,803 (GRCm38) H71L probably damaging Het
Spata6l G T 19: 28,905,148 (GRCm39) D305E probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tab1 C T 15: 80,036,964 (GRCm39) R217W probably damaging Het
Taf6 T A 5: 138,180,909 (GRCm39) Y224F possibly damaging Het
Tmc5 C G 7: 118,241,604 (GRCm39) F432L probably damaging Het
Trbc1 A T 6: 41,516,169 (GRCm39) probably benign Het
Trbv21 A G 6: 41,179,879 (GRCm39) N65S probably benign Het
Trim15 G A 17: 37,177,875 (GRCm39) P40L probably benign Het
Txnip T C 3: 96,466,916 (GRCm39) S197P probably benign Het
Vmn1r167 T A 7: 23,204,158 (GRCm39) Q286L probably benign Het
Wnt9a A G 11: 59,222,067 (GRCm39) I322V probably benign Het
Zfp879 T C 11: 50,724,672 (GRCm39) E128G probably damaging Het
Other mutations in Or4a79
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Or4a79 APN 2 89,551,870 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGTCAATGACATTGGGTCC -3'
(R):5'- AACCTGCTCATTGTGGGGAC -3'

Sequencing Primer
(F):5'- TCAATGACATTGGGTCCACAAAAAG -3'
(R):5'- ACAGTGATTGCCAGCCC -3'
Posted On 2016-03-01