Incidental Mutation 'R5076:Or4a79'
ID 395742
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 042665-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.334) question?
Stock # R5076 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89551509-89552453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89551745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 237 (T237S)
Ref Sequence ENSEMBL: ENSMUSP00000150304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000187990] [ENSMUST00000213196] [ENSMUST00000216203]
AlphaFold Q7TQZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000186710
AA Change: T237S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: T237S

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: T237S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: T237S

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: T237S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216203
AA Change: T237S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.0%
Validation Efficiency 97% (66/68)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,963,559 (GRCm39) I72V probably benign Het
Aadacl3 G A 4: 144,182,640 (GRCm39) P276L possibly damaging Het
Acp6 T A 3: 97,075,305 (GRCm39) S180T probably benign Het
Adgrd1 A T 5: 129,221,053 (GRCm39) R449* probably null Het
Ak1 T C 2: 32,523,460 (GRCm39) V176A probably damaging Het
Capzb A T 4: 139,015,125 (GRCm39) D226V possibly damaging Het
Cd34 A T 1: 194,630,338 (GRCm39) probably benign Het
Cdh15 C A 8: 123,591,087 (GRCm39) D445E possibly damaging Het
Chil4 A G 3: 106,109,913 (GRCm39) F367L probably damaging Het
Clstn2 T C 9: 97,365,132 (GRCm39) Y458C probably damaging Het
Cplane2 A G 4: 140,944,696 (GRCm39) I82M probably benign Het
Ctsw T C 19: 5,518,486 (GRCm39) Y9C probably benign Het
Dhrs7 T C 12: 72,706,255 (GRCm39) D50G probably benign Het
Dnah14 A G 1: 181,584,799 (GRCm39) K3177E probably benign Het
Ehd1 T C 19: 6,327,251 (GRCm39) F83L probably benign Het
Eif5a2 G A 3: 28,836,886 (GRCm39) V59I possibly damaging Het
Emilin3 T A 2: 160,751,238 (GRCm39) probably null Het
Entpd8 A G 2: 24,975,066 (GRCm39) S426G possibly damaging Het
Epb41l4b C T 4: 57,040,984 (GRCm39) G493D probably damaging Het
Gm11596 C T 11: 99,683,698 (GRCm39) G141R unknown Het
Gpi-ps T G 8: 5,690,130 (GRCm39) noncoding transcript Het
H2-Q4 T C 17: 35,599,417 (GRCm39) Y167H probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Itpr1 A G 6: 108,382,490 (GRCm39) probably null Het
Kif2c A T 4: 117,032,066 (GRCm39) probably benign Het
Klrb1-ps1 C T 6: 129,096,751 (GRCm39) noncoding transcript Het
Krtap9-5 A T 11: 99,840,294 (GRCm39) T332S unknown Het
Lrrc39 A T 3: 116,373,189 (GRCm39) E283V probably benign Het
Mdga1 A G 17: 30,069,528 (GRCm39) S447P possibly damaging Het
Mindy1 G A 3: 95,202,710 (GRCm39) V425M probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps5 T A 2: 127,442,772 (GRCm39) Y280* probably null Het
Muc3a T A 5: 137,244,997 (GRCm39) T159S probably damaging Het
Or10ad1b T A 15: 98,124,642 (GRCm39) I295F probably damaging Het
Or4f6 A T 2: 111,838,937 (GRCm39) M198K probably damaging Het
Pcdhga4 G A 18: 37,818,648 (GRCm39) V66I probably benign Het
Pdhx T C 2: 102,871,422 (GRCm39) T203A probably damaging Het
Pdss1 A G 2: 22,789,929 (GRCm39) probably null Het
Pdxk G T 10: 78,286,141 (GRCm39) Q103K probably benign Het
Peg3 A G 7: 6,711,419 (GRCm39) C1268R probably damaging Het
Pitpnc1 A T 11: 107,187,093 (GRCm39) S77T probably damaging Het
Pnisr T A 4: 21,874,990 (GRCm39) probably benign Het
Poc1b C T 10: 98,943,703 (GRCm39) T22I probably damaging Het
Ppfia1 G A 7: 144,060,001 (GRCm39) R604W probably damaging Het
Ppp1r3a A G 6: 14,754,680 (GRCm39) F189S probably damaging Het
Rbks T A 5: 31,807,795 (GRCm39) Y99* probably null Het
Sh3rf2 G T 18: 42,186,989 (GRCm39) C36F probably damaging Het
Spock3 T A 8: 63,798,889 (GRCm39) N303K probably damaging Het
Tasor2 C T 13: 3,626,357 (GRCm39) V1198I probably benign Het
Tcaf2 T C 6: 42,606,401 (GRCm39) T518A probably benign Het
Tmem163 A T 1: 127,428,013 (GRCm39) V191D probably damaging Het
Trappc6b A G 12: 59,097,094 (GRCm39) V76A probably damaging Het
Ube2nl A G 7: 61,199,280 (GRCm39) noncoding transcript Het
Unc5d C T 8: 29,184,704 (GRCm39) V599M possibly damaging Het
Vmn1r184 A T 7: 25,966,346 (GRCm39) M31L probably benign Het
Vrtn C A 12: 84,696,248 (GRCm39) Q333K probably damaging Het
Zfp788 T A 7: 41,298,008 (GRCm39) F163I possibly damaging Het
Zfyve1 C T 12: 83,602,421 (GRCm39) R458H 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
R4845:Or4a79 UTSW 2 89,552,120 (GRCm39) missense probably benign 0.05
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'- ACTCCACAGCTTTGCCATAC -3'
(R):5'- TTTTGTGGACCCAATGTCATTG -3'

Sequencing Primer
(F):5'- GCTTTGCCATACAAATTTTAATCTCC -3'
(R):5'- GACCACTTTGGATGTGACATGTACC -3'
Posted On 2016-06-21