Incidental Mutation 'R6531:Or4c3'
ID 522320
Institutional Source Beutler Lab
Gene Symbol Or4c3
Ensembl Gene ENSMUSG00000075069
Gene Name olfactory receptor family 4 subfamily C member 3
Synonyms MOR236-1, GA_x6K02T2Q125-51454183-51453257, Olfr1264
MMRRC Submission 044657-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R6531 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89851482-89852408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89851801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000149126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099758] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
AlphaFold Q9R0K2
Predicted Effect probably benign
Transcript: ENSMUST00000099758
AA Change: V203A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097347
Gene: ENSMUSG00000075069
AA Change: V203A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.8e-47 PFAM
Pfam:7tm_1 39 285 2.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214382
Predicted Effect probably benign
Transcript: ENSMUST00000216616
AA Change: V203A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect probably benign
Transcript: ENSMUST00000217065
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.6%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,926,980 (GRCm39) E880G possibly damaging Het
Acsbg2 T A 17: 57,153,617 (GRCm39) I529F probably damaging Het
Ahcyl2 T G 6: 29,886,161 (GRCm39) M359R probably benign Het
Aldh5a1 G T 13: 25,102,547 (GRCm39) D305E probably benign Het
Catsper2 C G 2: 121,230,261 (GRCm39) V358L possibly damaging Het
Cd200r4 C T 16: 44,653,868 (GRCm39) Q222* probably null Het
Col4a2 T A 8: 11,458,135 (GRCm39) D270E probably benign Het
Cux1 T C 5: 136,303,973 (GRCm39) D1401G probably benign Het
Cyp3a59 T A 5: 146,035,027 (GRCm39) M235K probably benign Het
Dock3 T C 9: 106,844,415 (GRCm39) D895G probably benign Het
Dync1h1 T C 12: 110,584,354 (GRCm39) F586L probably damaging Het
Elmo1 G T 13: 20,756,616 (GRCm39) R568L possibly damaging Het
Epb41 T C 4: 131,684,947 (GRCm39) T711A probably benign Het
Grm7 T A 6: 111,335,386 (GRCm39) M599K probably benign Het
Hivep3 A T 4: 119,980,073 (GRCm39) K1704* probably null Het
Ighv1-62-3 C A 12: 115,424,626 (GRCm39) C115F probably damaging Het
Krt78 A G 15: 101,860,708 (GRCm39) Y200H probably benign Het
Lamb2 A T 9: 108,360,925 (GRCm39) H549L possibly damaging Het
Mroh3 A G 1: 136,112,091 (GRCm39) I759T probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nol6 G T 4: 41,118,154 (GRCm39) P828T probably benign Het
Or1j15 G A 2: 36,459,353 (GRCm39) V248I probably damaging Het
Or5m5 A G 2: 85,814,651 (GRCm39) I156V probably benign Het
Or8w1 A G 2: 87,465,873 (GRCm39) Y73H probably damaging Het
Ovgp1 A C 3: 105,894,387 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,962,313 (GRCm39) Q230L possibly damaging Het
Pkn1 C T 8: 84,396,922 (GRCm39) V910I probably benign Het
Plcb1 T A 2: 135,167,722 (GRCm39) probably null Het
Ppp1r12c A G 7: 4,485,788 (GRCm39) probably null Het
Rassf5 T A 1: 131,172,551 (GRCm39) Q106L possibly damaging Het
Rfc1 T C 5: 65,470,322 (GRCm39) K62E possibly damaging Het
Sf3b1 C T 1: 55,058,554 (GRCm39) E12K probably damaging Het
Slc4a1ap A T 5: 31,705,982 (GRCm39) D691V probably benign Het
Speg T A 1: 75,399,401 (GRCm39) F2283I probably benign Het
Styxl2 A T 1: 165,937,615 (GRCm39) probably null Het
Synj2 A G 17: 6,084,114 (GRCm39) K267E probably damaging Het
Tg A T 15: 66,711,211 (GRCm39) Y991F probably damaging Het
Tlk1 A T 2: 70,572,427 (GRCm39) D380E probably benign Het
Trim43b A T 9: 88,967,418 (GRCm39) L405H probably damaging Het
Ttf2 A G 3: 100,863,576 (GRCm39) I586T probably damaging Het
Ugt2b36 T A 5: 87,229,445 (GRCm39) R213S probably damaging Het
Vmn1r198 T A 13: 22,538,577 (GRCm39) M21K probably benign Het
Wdr35 A T 12: 9,028,685 (GRCm39) Y101F probably benign Het
Zfp367 T C 13: 64,292,064 (GRCm39) Y189C probably damaging Het
Other mutations in Or4c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1635:Or4c3 UTSW 2 89,852,314 (GRCm39) missense possibly damaging 0.94
R1758:Or4c3 UTSW 2 89,851,673 (GRCm39) missense probably benign
R1930:Or4c3 UTSW 2 89,851,505 (GRCm39) missense probably benign
R2159:Or4c3 UTSW 2 89,851,882 (GRCm39) missense probably damaging 0.97
R3977:Or4c3 UTSW 2 89,852,089 (GRCm39) missense probably damaging 1.00
R4028:Or4c3 UTSW 2 89,851,567 (GRCm39) missense probably damaging 1.00
R4884:Or4c3 UTSW 2 89,851,987 (GRCm39) missense probably benign 0.19
R5194:Or4c3 UTSW 2 89,851,870 (GRCm39) missense probably damaging 1.00
R5225:Or4c3 UTSW 2 89,851,528 (GRCm39) missense probably benign 0.00
R5399:Or4c3 UTSW 2 89,852,267 (GRCm39) missense probably benign 0.19
R5436:Or4c3 UTSW 2 89,852,009 (GRCm39) missense probably benign 0.25
R5753:Or4c3 UTSW 2 89,851,847 (GRCm39) missense possibly damaging 0.87
R6225:Or4c3 UTSW 2 89,851,573 (GRCm39) splice site probably null
R6391:Or4c3 UTSW 2 89,851,975 (GRCm39) missense probably benign 0.03
R7293:Or4c3 UTSW 2 89,851,871 (GRCm39) missense probably damaging 1.00
R7880:Or4c3 UTSW 2 89,852,381 (GRCm39) missense probably damaging 1.00
R8014:Or4c3 UTSW 2 89,852,087 (GRCm39) missense possibly damaging 0.95
R8887:Or4c3 UTSW 2 89,852,269 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TGGGTGTGAGAATACCATAAAACAC -3'
(R):5'- CATGACCAGGCACCTTTGTG -3'

Sequencing Primer
(F):5'- TCTATAGGTAAAGTAGTCGATGGAC -3'
(R):5'- GGCACCTTTGTGTCGTGC -3'
Posted On 2018-06-06