Incidental Mutation 'R2347:Or4c52'
ID 245999
Institutional Source Beutler Lab
Gene Symbol Or4c52
Ensembl Gene ENSMUSG00000059112
Gene Name olfactory receptor family 4 subfamily C member 52
Synonyms GA_x6K02T2Q125-51447049-51447969, Olfr1263, MOR234-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2347 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89845276-89846196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89845958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 228 (R228L)
Ref Sequence ENSEMBL: ENSMUSP00000150959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
AlphaFold Q8VG63
Predicted Effect possibly damaging
Transcript: ENSMUST00000111507
AA Change: R228L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: R228L

DomainStartEndE-ValueType
Pfam:7tm_4 25 299 7.6e-42 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.7e-5 PFAM
Pfam:7tm_1 36 282 2.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214382
AA Change: R228L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect possibly damaging
Transcript: ENSMUST00000217065
AA Change: R228L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Ddx6 A G 9: 44,518,888 (GRCm39) K67E probably benign Het
Fut2 T C 7: 45,299,752 (GRCm39) D340G probably damaging Het
Gm128 A G 3: 95,148,241 (GRCm39) Y18H probably benign Het
Gon4l A G 3: 88,770,824 (GRCm39) D502G probably damaging Het
Lman2 T A 13: 55,500,812 (GRCm39) N129I possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or12j2 T A 7: 139,916,060 (GRCm39) M95K probably damaging Het
Or8g21 A T 9: 38,905,805 (GRCm39) *309K probably null Het
Pappa2 C A 1: 158,592,613 (GRCm39) C1588F probably damaging Het
Piwil2 T C 14: 70,646,366 (GRCm39) D390G probably damaging Het
Rest A G 5: 77,416,440 (GRCm39) Y218C probably damaging Het
Other mutations in Or4c52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Or4c52 APN 2 89,846,063 (GRCm39) missense probably damaging 1.00
IGL01512:Or4c52 APN 2 89,845,636 (GRCm39) missense probably damaging 1.00
IGL01722:Or4c52 APN 2 89,845,351 (GRCm39) missense probably benign 0.39
IGL01787:Or4c52 APN 2 89,845,655 (GRCm39) missense probably damaging 1.00
IGL02376:Or4c52 APN 2 89,845,804 (GRCm39) missense probably benign 0.00
IGL03408:Or4c52 APN 2 89,845,915 (GRCm39) missense probably benign 0.35
R0367:Or4c52 UTSW 2 89,846,116 (GRCm39) missense probably damaging 0.99
R0765:Or4c52 UTSW 2 89,846,014 (GRCm39) missense probably benign 0.01
R1158:Or4c52 UTSW 2 89,845,598 (GRCm39) missense possibly damaging 0.94
R1705:Or4c52 UTSW 2 89,845,855 (GRCm39) missense possibly damaging 0.90
R1794:Or4c52 UTSW 2 89,845,364 (GRCm39) missense probably damaging 1.00
R2197:Or4c52 UTSW 2 89,845,768 (GRCm39) missense probably damaging 1.00
R2442:Or4c52 UTSW 2 89,845,685 (GRCm39) missense probably benign
R3160:Or4c52 UTSW 2 89,845,365 (GRCm39) nonsense probably null
R3162:Or4c52 UTSW 2 89,845,365 (GRCm39) nonsense probably null
R4298:Or4c52 UTSW 2 89,845,993 (GRCm39) missense probably benign 0.13
R4898:Or4c52 UTSW 2 89,845,762 (GRCm39) missense probably damaging 1.00
R5340:Or4c52 UTSW 2 89,845,706 (GRCm39) missense probably benign
R6280:Or4c52 UTSW 2 89,845,393 (GRCm39) missense possibly damaging 0.62
R6367:Or4c52 UTSW 2 89,845,360 (GRCm39) missense probably benign 0.00
R6556:Or4c52 UTSW 2 89,845,438 (GRCm39) missense probably damaging 1.00
R7086:Or4c52 UTSW 2 89,845,594 (GRCm39) missense probably benign 0.07
R7502:Or4c52 UTSW 2 89,845,355 (GRCm39) missense probably benign 0.15
R7585:Or4c52 UTSW 2 89,845,393 (GRCm39) missense probably damaging 0.99
R7963:Or4c52 UTSW 2 89,846,003 (GRCm39) missense possibly damaging 0.73
R8062:Or4c52 UTSW 2 89,846,080 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- ATGGCCCAGTTACCCTTCTG -3'
(R):5'- GACCCCAGAGCTTCTTCATAAC -3'

Sequencing Primer
(F):5'- CCCAATACCATCAACCATTTTATGTG -3'
(R):5'- AGAGCTTCTTCATAACCCTTTTGAC -3'
Posted On 2014-10-30