Incidental Mutation 'R3162:Or4c52'
ID 271665
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 040613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3162 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89845276-89846196 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 89845365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 30 (Y30*)
Ref Sequence ENSEMBL: ENSMUSP00000150959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
AlphaFold Q8VG63
Predicted Effect probably null
Transcript: ENSMUST00000111507
AA Change: Y30*
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: Y30*

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 null
Transcript: ENSMUST00000111507
AA Change: Y30*
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: Y30*

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 null
Transcript: ENSMUST00000214382
AA Change: Y30*
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect probably null
Transcript: ENSMUST00000217065
AA Change: Y30*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H 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
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
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'- AGCTGCATGGGATGTGATACTG -3'
(R):5'- AGCCATTGAAGGATATGGTGC -3'

Sequencing Primer
(F):5'- TGATACTGAGAAGAAATGCAGCTAC -3'
(R):5'- CCATTGAAGGATATGGTGCTCTTCTC -3'
Posted On 2015-03-25