Incidental Mutation 'IGL02328:Or52ab4'
ID 288549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ab4
Ensembl Gene ENSMUSG00000073950
Gene Name olfactory receptor family 52 subfamily AB member 4
Synonyms Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02328
Quality Score
Status
Chromosome 7
Chromosomal Location 102987219-102988268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102987497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 79 (I79F)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329]
AlphaFold Q8VG01
Predicted Effect probably damaging
Transcript: ENSMUST00000098201
AA Change: I79F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: I79F

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 probably damaging
Transcript: ENSMUST00000214329
AA Change: I79F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,726,294 (GRCm39) N577I probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
Btk G A X: 133,459,449 (GRCm39) P192L probably damaging Het
Col12a1 T A 9: 79,589,348 (GRCm39) Y1069F probably damaging Het
Dnah7a C T 1: 53,564,096 (GRCm39) probably null Het
E230025N22Rik A G 18: 36,828,667 (GRCm39) S4P probably damaging Het
Ei24 A T 9: 36,696,827 (GRCm39) probably null Het
Foxred2 A G 15: 77,840,032 (GRCm39) L86P probably damaging Het
Gm3127 A T 14: 15,424,989 (GRCm39) R42W probably damaging Het
Hgf A G 5: 16,803,219 (GRCm39) Y377C probably damaging Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Iqcg T G 16: 32,839,876 (GRCm39) I357L probably benign Het
Itsn1 T C 16: 91,612,295 (GRCm39) L204P probably damaging Het
Kalrn T C 16: 34,152,594 (GRCm39) N311S probably damaging Het
Lmod2 A G 6: 24,603,832 (GRCm39) D269G probably benign Het
Med16 A G 10: 79,743,376 (GRCm39) S29P probably damaging Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Myo15a A G 11: 60,417,433 (GRCm39) I3443V probably benign Het
Naip2 A T 13: 100,297,877 (GRCm39) L720I probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Or4z4 T A 19: 12,076,146 (GRCm39) I286F probably damaging Het
Or6c213 T C 10: 129,573,895 (GRCm39) D297G probably benign Het
Or8b1b A T 9: 38,375,972 (GRCm39) I212F probably benign Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,259,477 (GRCm39) Q1286R probably damaging Het
Scgb2b24 A G 7: 33,438,050 (GRCm39) probably benign Het
Sh2b3 T C 5: 121,955,922 (GRCm39) D520G probably benign Het
Skint4 T A 4: 111,977,255 (GRCm39) I215N possibly damaging Het
Slc24a5 A G 2: 124,922,559 (GRCm39) D107G probably damaging Het
Slit2 T C 5: 48,387,646 (GRCm39) I549T probably damaging Het
Stambp A G 6: 83,533,363 (GRCm39) L300P possibly damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tm9sf2 T G 14: 122,380,842 (GRCm39) V145G possibly damaging Het
Tor1aip2 G T 1: 155,940,720 (GRCm39) C342F probably damaging Het
Ubr4 C T 4: 139,206,233 (GRCm39) T4823M probably damaging Het
Vmn1r80 G T 7: 11,927,405 (GRCm39) A172S probably benign Het
Vmn2r67 T A 7: 84,799,898 (GRCm39) N447Y probably benign Het
Zbtb1 A G 12: 76,433,450 (GRCm39) N479D possibly 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
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
R7001:Or52ab4 UTSW 7 102,987,428 (GRCm39) missense possibly damaging 0.51
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
Posted On 2015-04-16