Incidental Mutation 'R7001:Or52ab4'
ID 544542
Institutional Source Beutler Lab
Gene Symbol Or52ab4
Ensembl Gene ENSMUSG00000073950
Gene Name olfactory receptor family 52 subfamily AB member 4
Synonyms Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349
MMRRC Submission 045106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7001 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102987219-102988268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102987428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 56 (S56G)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329]
AlphaFold Q8VG01
Predicted Effect possibly damaging
Transcript: ENSMUST00000098201
AA Change: S56G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: S56G

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.8e-94 PFAM
Pfam:7TM_GPCR_Srsx 37 308 1.2e-6 PFAM
Pfam:7tm_1 43 293 2.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214329
AA Change: S56G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,771,272 (GRCm39) Q154K probably benign Het
Aldh6a1 T G 12: 84,488,662 (GRCm39) T75P probably damaging Het
Ank2 T A 3: 126,871,230 (GRCm39) H98L probably damaging Het
Ankib1 A G 5: 3,744,781 (GRCm39) F800S probably benign Het
Arhgap10 A T 8: 78,091,717 (GRCm39) M434K possibly damaging Het
Cap1 A T 4: 122,758,408 (GRCm39) F257L probably benign Het
Cdt1 T A 8: 123,299,249 (GRCm39) H510Q probably damaging Het
Clca3b A C 3: 144,533,733 (GRCm39) D547E possibly damaging Het
Col24a1 T C 3: 145,004,627 (GRCm39) V35A probably benign Het
Cyp2j13 A T 4: 95,945,112 (GRCm39) N305K probably damaging Het
D3Ertd751e T A 3: 41,712,844 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Ddc T C 11: 11,774,870 (GRCm39) probably null Het
Dnah12 A T 14: 26,601,681 (GRCm39) Y3713F probably damaging Het
Dock8 T A 19: 25,077,041 (GRCm39) S504T probably benign Het
Farp2 T C 1: 93,547,906 (GRCm39) F941L possibly damaging Het
Farp2 A G 1: 93,547,952 (GRCm39) N956S possibly damaging Het
Fbxo3 T A 2: 103,881,569 (GRCm39) H300Q probably damaging Het
Fcgrt T C 7: 44,751,466 (GRCm39) T131A probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Frem1 T C 4: 82,904,798 (GRCm39) E890G probably benign Het
Fsip2 C A 2: 82,817,269 (GRCm39) P4334H probably damaging Het
Gcdh C A 8: 85,617,540 (GRCm39) V227L probably benign Het
Gm8267 A C 14: 44,960,385 (GRCm39) M120R possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Lasp1 T G 11: 97,697,659 (GRCm39) H26Q probably damaging Het
Lrrcc1 T A 3: 14,605,155 (GRCm39) I297N probably damaging Het
Map1b A T 13: 99,567,101 (GRCm39) N1873K unknown Het
Map2 A G 1: 66,454,646 (GRCm39) I1179V probably benign Het
Mtss1 A C 15: 58,820,183 (GRCm39) probably benign Het
Mtus2 A G 5: 148,214,438 (GRCm39) E28G probably damaging Het
Muc6 G A 7: 141,217,320 (GRCm39) T2386I probably damaging Het
Myo3a G T 2: 22,337,188 (GRCm39) V362L probably benign Het
N6amt1 G A 16: 87,151,180 (GRCm39) V14M probably benign Het
Nav1 A T 1: 135,382,349 (GRCm39) probably null Het
Nol6 A G 4: 41,121,279 (GRCm39) S326P probably benign Het
Olr1 T A 6: 129,465,074 (GRCm39) E100V probably damaging Het
Or8k37 A T 2: 86,469,495 (GRCm39) S186T probably benign Het
Otop3 T C 11: 115,230,479 (GRCm39) Y119H probably damaging Het
Prb1b C T 6: 132,289,527 (GRCm39) G99E unknown Het
Ryr2 A T 13: 11,809,491 (GRCm39) M778K probably damaging Het
Serpina3n G T 12: 104,375,184 (GRCm39) M85I probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sf3b1 A G 1: 55,040,205 (GRCm39) V591A probably damaging Het
Sf3b1 A G 1: 55,053,640 (GRCm39) probably null Het
Slc26a5 C T 5: 22,016,334 (GRCm39) V646I probably damaging Het
Slitrk3 T A 3: 72,957,942 (GRCm39) K277* probably null Het
Sv2c A G 13: 96,118,461 (GRCm39) S463P probably benign Het
Tbc1d4 G A 14: 101,696,185 (GRCm39) T858M probably benign Het
Tbx18 T A 9: 87,609,457 (GRCm39) I193F probably damaging Het
Tm6sf2 A C 8: 70,530,982 (GRCm39) D245A probably damaging Het
Unc119 T C 11: 78,239,380 (GRCm39) Y234H probably damaging Het
Wrn A T 8: 33,842,157 (GRCm39) S46T probably benign Het
Zfp729a A T 13: 67,768,468 (GRCm39) I587K probably benign Het
Zfp872 C A 9: 22,111,912 (GRCm39) H464N probably damaging Het
Other mutations in Or52ab4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Or52ab4 APN 7 102,987,974 (GRCm39) nonsense probably null
IGL01744:Or52ab4 APN 7 102,987,435 (GRCm39) missense probably damaging 0.98
IGL02011:Or52ab4 APN 7 102,988,056 (GRCm39) missense probably damaging 0.98
IGL02328:Or52ab4 APN 7 102,987,497 (GRCm39) missense probably damaging 1.00
IGL02630:Or52ab4 APN 7 102,987,636 (GRCm39) missense probably damaging 1.00
IGL03119:Or52ab4 APN 7 102,987,929 (GRCm39) missense probably damaging 1.00
PIT4468001:Or52ab4 UTSW 7 102,987,807 (GRCm39) missense probably damaging 1.00
R0599:Or52ab4 UTSW 7 102,987,393 (GRCm39) missense probably damaging 1.00
R4084:Or52ab4 UTSW 7 102,987,527 (GRCm39) missense probably damaging 0.99
R5068:Or52ab4 UTSW 7 102,987,229 (GRCm39) start gained probably null
R5069:Or52ab4 UTSW 7 102,987,229 (GRCm39) start gained probably null
R5280:Or52ab4 UTSW 7 102,987,708 (GRCm39) missense probably benign
R5816:Or52ab4 UTSW 7 102,988,202 (GRCm39) missense probably benign 0.00
R6560:Or52ab4 UTSW 7 102,987,945 (GRCm39) missense probably benign 0.02
R7890:Or52ab4 UTSW 7 102,987,537 (GRCm39) missense probably benign
R8295:Or52ab4 UTSW 7 102,987,474 (GRCm39) missense probably benign 0.08
R8430:Or52ab4 UTSW 7 102,988,164 (GRCm39) missense probably benign 0.01
R8946:Or52ab4 UTSW 7 102,987,573 (GRCm39) missense probably damaging 1.00
R9045:Or52ab4 UTSW 7 102,987,903 (GRCm39) missense probably damaging 0.99
R9402:Or52ab4 UTSW 7 102,988,196 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCTGATTCGGTGTCAGCATCAG -3'
(R):5'- GCAGAACGCCAGATTCCATTC -3'

Sequencing Primer
(F):5'- AGGATTCATCAGCTCAATGGGC -3'
(R):5'- AGATTCCATTCCTTGCAAGGCATG -3'
Posted On 2019-05-13