Incidental Mutation 'R1794:Or4c52'
ID 202022
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 039824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1794 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89845276-89846196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89845364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 30 (Y30C)
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: Y30C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: Y30C

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: Y30C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect probably damaging
Transcript: ENSMUST00000217065
AA Change: Y30C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa7 A G 14: 20,521,535 (GRCm39) Y54H unknown Het
Arhgef3 A G 14: 27,119,562 (GRCm39) T331A probably benign Het
Arhgef40 G T 14: 52,227,387 (GRCm39) C477F possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a5 C A 16: 29,140,527 (GRCm39) R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,507,719 (GRCm39) probably benign Het
Btbd2 G T 10: 80,479,747 (GRCm39) D426E probably damaging Het
Cabin1 A C 10: 75,561,579 (GRCm39) I974R possibly damaging Het
Cacna1i G A 15: 80,273,323 (GRCm39) V1670M probably damaging Het
Cc2d2a C A 5: 43,845,594 (GRCm39) Q288K probably damaging Het
Ccl20 T A 1: 83,095,550 (GRCm39) I37K possibly damaging Het
Cdcp1 A G 9: 123,019,159 (GRCm39) V40A probably benign Het
Cdcp1 T C 9: 123,044,896 (GRCm39) T27A probably benign Het
Cdh4 C T 2: 179,528,635 (GRCm39) T581I probably damaging Het
Cgn A G 3: 94,669,864 (GRCm39) probably null Het
Col7a1 G A 9: 108,794,996 (GRCm39) G1493D unknown Het
Creb3 A G 4: 43,563,302 (GRCm39) E133G probably benign Het
Dchs1 T C 7: 105,420,927 (GRCm39) T498A probably benign Het
Dis3l A C 9: 64,225,058 (GRCm39) V413G possibly damaging Het
Dnah6 T C 6: 73,001,941 (GRCm39) E3865G probably damaging Het
Fam219b A G 9: 57,446,564 (GRCm39) Y139C probably damaging Het
Fat3 A T 9: 15,908,432 (GRCm39) Y2523* probably null Het
Fat3 A T 9: 15,908,434 (GRCm39) Y2523N probably benign Het
Fmnl1 T C 11: 103,087,973 (GRCm39) S40P probably benign Het
Gm4792 T C 10: 94,134,352 (GRCm39) D6G unknown Het
Hhat G T 1: 192,376,214 (GRCm39) Y306* probably null Het
Hmcn1 A G 1: 150,474,036 (GRCm39) I4802T probably benign Het
Hmcn1 G A 1: 150,502,903 (GRCm39) T3908I probably damaging Het
Hsph1 A T 5: 149,554,238 (GRCm39) N79K probably damaging Het
Ikbke T A 1: 131,186,955 (GRCm39) Y579F probably damaging Het
Jak2 A G 19: 29,276,957 (GRCm39) D838G probably benign Het
Klhdc7b T C 15: 89,271,223 (GRCm39) S702P probably benign Het
Lingo3 C A 10: 80,671,432 (GRCm39) R166L probably benign Het
Lins1 T C 7: 66,361,657 (GRCm39) F436S probably damaging Het
Lman1 T C 18: 66,124,755 (GRCm39) D328G probably benign Het
Lox A G 18: 52,661,379 (GRCm39) C232R probably damaging Het
Lrrc59 T C 11: 94,529,421 (GRCm39) V165A probably benign Het
Map9 A G 3: 82,287,528 (GRCm39) D50G probably damaging Het
Marchf1 T A 8: 66,839,594 (GRCm39) Y126N possibly damaging Het
Mcf2l T C 8: 12,965,982 (GRCm39) F3L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nin G A 12: 70,090,569 (GRCm39) Q949* probably null Het
Nlgn3 A G X: 100,363,639 (GRCm39) H636R probably benign Het
Notch2 A G 3: 98,006,863 (GRCm39) D411G possibly damaging Het
Or5b24 G C 19: 12,912,332 (GRCm39) A77P probably damaging Het
Pate7 T A 9: 35,688,418 (GRCm39) I56F probably benign Het
Plekha7 A G 7: 115,739,916 (GRCm39) V579A probably damaging Het
Prrc2c T C 1: 162,533,528 (GRCm39) probably benign Het
Rab7b T C 1: 131,624,806 (GRCm39) probably null Het
Reg3b G T 6: 78,349,197 (GRCm39) probably null Het
Rgs20 A G 1: 4,980,795 (GRCm39) Y177H probably damaging Het
Ripk3 G T 14: 56,022,786 (GRCm39) N379K probably benign Het
Rnf220 G T 4: 117,164,765 (GRCm39) Q7K probably benign Het
Ros1 T A 10: 52,000,199 (GRCm39) K1109* probably null Het
Slc22a7 T G 17: 46,744,079 (GRCm39) R460S probably damaging Het
Slc4a2 A G 5: 24,644,326 (GRCm39) M975V probably damaging Het
Slc4a3 A T 1: 75,533,952 (GRCm39) I1100F probably damaging Het
Smco1 A G 16: 32,092,950 (GRCm39) E207G probably benign Het
Snrnp200 A G 2: 127,058,656 (GRCm39) E369G probably benign Het
Spata31d1e T C 13: 59,890,434 (GRCm39) E44G probably benign Het
Tcf4 T A 18: 69,790,924 (GRCm39) M178K probably benign Het
Tex2 T C 11: 106,458,728 (GRCm39) probably benign Het
Tjp1 A T 7: 64,972,877 (GRCm39) I521N probably damaging Het
Tmem203 A G 2: 25,146,006 (GRCm39) T109A probably benign Het
Tmem50b T C 16: 91,374,917 (GRCm39) I126V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,595,006 (GRCm39) F3813L probably benign Het
Vmn1r203 C T 13: 22,708,521 (GRCm39) R101W probably damaging Het
Vmn2r79 G A 7: 86,650,621 (GRCm39) V136I probably benign Het
Wdr38 A G 2: 38,890,741 (GRCm39) Y205C probably damaging Het
Zfp248 A G 6: 118,406,264 (GRCm39) F442L probably damaging Het
Znrf4 A G 17: 56,818,599 (GRCm39) I236T 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
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'- AGCTGCATGGGATGTGATAC -3'
(R):5'- CAGCCATTGAAGGATATGGTGC -3'

Sequencing Primer
(F):5'- TGATACTGAGAAGAAATGCAGCTAC -3'
(R):5'- CCATTGAAGGATATGGTGCTCTTCTC -3'
Posted On 2014-06-23