Incidental Mutation 'R8062:Or4c52'
ID 619754
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 067498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8062 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89845276-89846196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89846080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 269 (F269I)
Ref Sequence ENSEMBL: ENSMUSP00000149887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
AlphaFold Q8VG63
Predicted Effect possibly damaging
Transcript: ENSMUST00000111507
AA Change: F269I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: F269I

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: F269I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect possibly damaging
Transcript: ENSMUST00000217065
AA Change: F269I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,427,773 (GRCm39) Y172N possibly damaging Het
Abhd2 T A 7: 78,975,338 (GRCm39) M176K possibly damaging Het
Adamts14 A G 10: 61,036,140 (GRCm39) probably null Het
Atg2a T C 19: 6,302,609 (GRCm39) probably null Het
Bach2 G A 4: 32,562,937 (GRCm39) G468E probably damaging Het
Bap1 T A 14: 30,979,465 (GRCm39) N489K probably benign Het
Btaf1 G A 19: 36,969,865 (GRCm39) V1180I probably benign Het
Calm5 A G 13: 3,904,405 (GRCm39) H33R probably benign Het
Cby2 A T 14: 75,830,046 (GRCm39) I49N probably benign Het
Cnr1 T A 4: 33,944,707 (GRCm39) V365E possibly damaging Het
Crym A C 7: 119,800,391 (GRCm39) V77G probably damaging Het
Cyp2j7 T A 4: 96,103,587 (GRCm39) E316V probably null Het
Dab2 G A 15: 6,456,822 (GRCm39) G233D probably damaging Het
Ddx19b A T 8: 111,747,611 (GRCm39) S108T probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Duxf1 G A 10: 58,059,632 (GRCm39) A374V unknown Het
Duxf3 A C 10: 58,066,750 (GRCm39) M93R probably benign Het
Duxf3 G A 10: 58,066,889 (GRCm39) L537F probably damaging Het
Eif2s2 A G 2: 154,719,724 (GRCm39) F182L possibly damaging Het
Erlin1 T A 19: 44,044,598 (GRCm39) K156I probably benign Het
Gapvd1 A G 2: 34,568,126 (GRCm39) S1413P probably benign Het
Gm1110 G A 9: 26,793,117 (GRCm39) A553V probably damaging Het
Gm3250 C A 10: 77,618,234 (GRCm39) C48F unknown Het
Gm3604 T C 13: 62,518,155 (GRCm39) S68G probably damaging Het
Golga5 T A 12: 102,450,739 (GRCm39) M464K probably benign Het
Gpr142 G A 11: 114,697,357 (GRCm39) R301Q probably benign Het
Gria4 C T 9: 4,480,273 (GRCm39) D392N possibly damaging Het
Grik2 T A 10: 49,116,863 (GRCm39) T633S probably damaging Het
Gsap T A 5: 21,399,461 (GRCm39) I54N probably damaging Het
Hdlbp A G 1: 93,366,064 (GRCm39) Y40H probably benign Het
Hyal5 C A 6: 24,876,196 (GRCm39) T23K possibly damaging Het
Iqank1 G A 15: 75,918,603 (GRCm39) R508H probably benign Het
Itga6 T A 2: 71,672,087 (GRCm39) F834L probably benign Het
Klf1 T A 8: 85,629,928 (GRCm39) L251Q probably benign Het
Kndc1 A G 7: 139,498,760 (GRCm39) D558G probably benign Het
Ktn1 T A 14: 47,962,429 (GRCm39) probably null Het
Lcmt2 A G 2: 120,970,753 (GRCm39) V110A possibly damaging Het
Lgr4 C T 2: 109,831,282 (GRCm39) R304C probably damaging Het
Lnpk T A 2: 74,381,407 (GRCm39) I119L possibly damaging Het
Med13 A G 11: 86,210,264 (GRCm39) V626A probably benign Het
Mroh9 A T 1: 162,866,544 (GRCm39) L700M probably damaging Het
Muc4 T A 16: 32,577,123 (GRCm39) W138R Het
Myh2 G T 11: 67,084,209 (GRCm39) E1611* probably null Het
Myo9b T G 8: 71,774,457 (GRCm39) S323A probably damaging Het
Or2n1c A T 17: 38,520,065 (GRCm39) I310F probably benign Het
Or5t7 A C 2: 86,507,410 (GRCm39) V89G probably benign Het
Or8b101 G T 9: 38,020,213 (GRCm39) C72F probably damaging Het
P2ry13 A T 3: 59,117,703 (GRCm39) M25K probably benign Het
Pan3 T A 5: 147,463,960 (GRCm39) F571Y probably benign Het
Pdcd11 A G 19: 47,119,152 (GRCm39) D1831G possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pex1 T G 5: 3,655,656 (GRCm39) M161R probably benign Het
Piezo2 T A 18: 63,163,537 (GRCm39) D2127V possibly damaging Het
Plod3 A T 5: 137,019,123 (GRCm39) H336L possibly damaging Het
Pp2d1 A T 17: 53,822,798 (GRCm39) N89K probably benign Het
Ppp4r3a A G 12: 101,008,230 (GRCm39) S736P probably damaging Het
Prp2 C A 6: 132,577,651 (GRCm39) Q313K unknown Het
Psma5 T G 3: 108,173,795 (GRCm39) D90E probably benign Het
Reln G A 5: 22,176,990 (GRCm39) T1892I probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 T G 7: 97,326,594 (GRCm39) D1039E Het
Rtel1 A G 2: 180,982,360 (GRCm39) D370G probably benign Het
Scyl2 T A 10: 89,490,022 (GRCm39) N447Y probably damaging Het
Sis A T 3: 72,828,321 (GRCm39) Y1222* probably null Het
Slc37a3 A T 6: 39,341,530 (GRCm39) H35Q probably damaging Het
Sltm A T 9: 70,480,779 (GRCm39) K210N unknown Het
Spata3 T C 1: 85,952,148 (GRCm39) I134T unknown Het
Speer4d A T 5: 15,825,437 (GRCm39) N54I possibly damaging Het
Syne1 A G 10: 5,135,394 (GRCm39) probably null Het
Tars1 A T 15: 11,388,400 (GRCm39) F465Y possibly damaging Het
Tlr4 T G 4: 66,758,087 (GRCm39) N293K probably benign Het
Tmprss13 C A 9: 45,239,986 (GRCm39) T98K unknown Het
Tnfsf8 G A 4: 63,779,432 (GRCm39) probably benign Het
Trim30b T A 7: 104,015,393 (GRCm39) probably benign Het
Trpm1 A G 7: 63,851,689 (GRCm39) K136E probably benign Het
Ttc6 A G 12: 57,783,764 (GRCm39) Y1741C possibly damaging Het
Usp38 T C 8: 81,711,218 (GRCm39) D939G probably damaging Het
Vmn1r196 T A 13: 22,477,440 (GRCm39) N26K probably damaging Het
Vmn2r50 C A 7: 9,774,240 (GRCm39) probably null Het
Wdr3 T A 3: 100,049,810 (GRCm39) M773L probably benign Het
Zfp993 T G 4: 146,739,415 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GACACTCACACTCTGGGACC -3'
(R):5'- TTCAAAAGGAGAACAAATGTCCATG -3'

Sequencing Primer
(F):5'- ACACTCTGGGACCCCTGATC -3'
(R):5'- TGTCCATGAAATAGCATTAGACATTG -3'
Posted On 2020-01-23