Incidental Mutation 'R0367:Or4c52'
ID 30258
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
MMRRC Submission 038573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R0367 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89845276-89846196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89846116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 281 (I281L)
Ref Sequence ENSEMBL: ENSMUSP00000150959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
AlphaFold Q8VG63
Predicted Effect probably damaging
Transcript: ENSMUST00000111507
AA Change: I281L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: I281L

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 probably damaging
Transcript: ENSMUST00000214382
AA Change: I281L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect probably damaging
Transcript: ENSMUST00000217065
AA Change: I281L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (60/60)
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
Aasdh A G 5: 77,049,961 (GRCm39) S12P probably damaging Het
Alx4 T A 2: 93,498,953 (GRCm39) D228E probably damaging Het
Antxr2 T C 5: 98,177,455 (GRCm39) E71G probably benign Het
Arhgap19 C A 19: 41,790,417 (GRCm39) G17V probably benign Het
C8a A C 4: 104,719,791 (GRCm39) probably null Het
Ccne2 T A 4: 11,201,426 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,425 (GRCm39) C317Y probably damaging Het
Cend1 C A 7: 141,007,808 (GRCm39) R4L probably damaging Het
Cfap44 T C 16: 44,253,839 (GRCm39) probably null Het
Cpt1c T C 7: 44,608,999 (GRCm39) N774S probably benign Het
Csmd1 C T 8: 15,967,270 (GRCm39) D3198N probably damaging Het
Dapk2 C T 9: 66,176,168 (GRCm39) S323F probably damaging Het
Ddx60 T G 8: 62,470,783 (GRCm39) I1425R possibly damaging Het
Edem1 T A 6: 108,823,713 (GRCm39) Y370N probably damaging Het
Elp5 A G 11: 69,865,967 (GRCm39) V103A probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fat1 A G 8: 45,477,350 (GRCm39) D2132G probably damaging Het
Fat2 A T 11: 55,182,919 (GRCm39) probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gp2 C T 7: 119,053,791 (GRCm39) D57N probably damaging Het
Gpr161 T C 1: 165,144,805 (GRCm39) probably benign Het
Gstcd G A 3: 132,692,138 (GRCm39) probably benign Het
Hipk3 A T 2: 104,261,594 (GRCm39) C980* probably null Het
Htr2a A T 14: 74,879,649 (GRCm39) I93L probably damaging Het
Itpr2 T G 6: 146,135,506 (GRCm39) K1775N probably damaging Het
Kcnt1 G A 2: 25,797,640 (GRCm39) V864I probably damaging Het
Kcnt2 A T 1: 140,278,963 (GRCm39) Y38F probably damaging Het
Limch1 G A 5: 67,015,297 (GRCm39) probably null Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Loxhd1 C T 18: 77,513,453 (GRCm39) probably benign Het
Lpin2 A T 17: 71,522,017 (GRCm39) E17V probably damaging Het
Lrrc34 A T 3: 30,684,142 (GRCm39) F342I probably benign Het
Lyzl6 A G 11: 103,527,578 (GRCm39) probably null Het
Map3k4 A C 17: 12,476,928 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad8 A G 11: 50,897,904 (GRCm39) Y35C probably damaging Het
Or7e168 G T 9: 19,719,839 (GRCm39) S75I probably damaging Het
Pcare G T 17: 72,057,471 (GRCm39) F735L probably damaging Het
Pdzrn4 A G 15: 92,655,538 (GRCm39) E477G possibly damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rims2 G T 15: 39,326,011 (GRCm39) probably null Het
Samd4b C T 7: 28,122,873 (GRCm39) A62T probably damaging Het
Scamp1 T C 13: 94,347,088 (GRCm39) N192S probably benign Het
Scnn1g T C 7: 121,345,802 (GRCm39) probably benign Het
Setd1a T G 7: 127,387,358 (GRCm39) probably benign Het
Setdb1 A G 3: 95,257,192 (GRCm39) probably benign Het
Slc2a7 T C 4: 150,250,823 (GRCm39) S415P probably benign Het
Sp140l2 G T 1: 85,247,824 (GRCm39) probably benign Het
Strip2 A T 6: 29,937,650 (GRCm39) Y526F possibly damaging Het
Styxl2 T A 1: 165,928,332 (GRCm39) T427S probably benign Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Syt13 C A 2: 92,745,596 (GRCm39) A22E probably benign Het
Tm9sf2 T C 14: 122,392,780 (GRCm39) F432S probably benign Het
Vmn2r49 A T 7: 9,710,357 (GRCm39) W792R probably damaging Het
Zfp292 T C 4: 34,808,227 (GRCm39) S1606G probably benign Het
Zfp518a A T 19: 40,900,665 (GRCm39) H198L 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
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
R2347:Or4c52 UTSW 2 89,845,958 (GRCm39) missense possibly damaging 0.82
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'- AAGCCCTGTCTACCTGTGCCT -3'
(R):5'- ACCTCTTCATGCTGCTCATAATGTGTC -3'

Sequencing Primer
(F):5'- GTGCCTCTCATGTCACCG -3'
(R):5'- aggttagtaaagagggagagtagg -3'
Posted On 2013-04-24