Incidental Mutation 'R7294:Or4c12'
ID 566600
Institutional Source Beutler Lab
Gene Symbol Or4c12
Ensembl Gene ENSMUSG00000068806
Gene Name olfactory receptor family 4 subfamily C member 12
Synonyms MOR232-9, Olfr1259, GA_x6K02T2Q125-51376062-51375133
MMRRC Submission 045399-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R7294 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89773528-89774457 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 89774068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 130 (Y130*)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
AlphaFold Q8VEZ1
Predicted Effect probably null
Transcript: ENSMUST00000090695
AA Change: Y130*
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: Y130*

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214846
AA Change: Y130*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (49/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,650,541 (GRCm39) Y1216* probably null Het
Abca17 G A 17: 24,539,983 (GRCm39) T415M not run Het
Adam1a G T 5: 121,658,068 (GRCm39) C408* probably null Het
Adamts9 G A 6: 92,871,270 (GRCm39) T603M probably damaging Het
Amdhd1 T C 10: 93,370,301 (GRCm39) E179G probably benign Het
Bcan T C 3: 87,902,831 (GRCm39) T316A possibly damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
C5ar1 T C 7: 15,982,950 (GRCm39) I23M probably benign Het
Cd109 A T 9: 78,619,917 (GRCm39) E1386D probably damaging Het
Cdcp1 C T 9: 123,006,986 (GRCm39) C587Y probably benign Het
Cdh22 A C 2: 164,984,013 (GRCm39) V413G possibly damaging Het
Cfap44 A G 16: 44,225,256 (GRCm39) probably benign Het
Col2a1 A G 15: 97,885,168 (GRCm39) probably null Het
Col6a3 A T 1: 90,756,005 (GRCm39) Y95N probably damaging Het
Dusp13b A G 14: 21,783,782 (GRCm39) S178P possibly damaging Het
Fhod3 A G 18: 25,266,037 (GRCm39) E1575G probably damaging Het
Gfpt2 C T 11: 49,709,435 (GRCm39) R209* probably null Het
Heg1 T C 16: 33,546,859 (GRCm39) S573P probably damaging Het
Hinfp A G 9: 44,210,567 (GRCm39) C152R probably damaging Het
Hmgcs2 C T 3: 98,198,211 (GRCm39) T38I probably benign Het
Jakmip1 T C 5: 37,274,804 (GRCm39) F441L possibly damaging Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kpna4 A C 3: 68,999,956 (GRCm39) probably null Het
Krt15 T A 11: 100,022,848 (GRCm39) I456F possibly damaging Het
Leprotl1 A T 8: 34,606,006 (GRCm39) probably null Het
Muc4 A T 16: 32,576,835 (GRCm39) T42S possibly damaging Het
Naa80 T G 9: 107,460,182 (GRCm39) F26V possibly damaging Het
Nr1h5 T C 3: 102,852,578 (GRCm39) T419A probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or52b3 T A 7: 102,204,160 (GRCm39) I223N probably damaging Het
Pax6 T A 2: 105,515,246 (GRCm39) C66* probably null Het
Pde10a A T 17: 8,975,853 (GRCm39) N53Y probably benign Het
Pdgfra A G 5: 75,342,312 (GRCm39) N711S probably benign Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Slc26a1 G T 5: 108,821,698 (GRCm39) R80S possibly damaging Het
Slc2a4 T C 11: 69,836,225 (GRCm39) D262G probably benign Het
Specc1 T A 11: 62,009,163 (GRCm39) S226R probably benign Het
Srsf4 A G 4: 131,627,772 (GRCm39) S289G unknown Het
Stil T C 4: 114,864,480 (GRCm39) V127A probably benign Het
Syne1 A T 10: 5,047,483 (GRCm39) probably null Het
Tbc1d22a T A 15: 86,196,036 (GRCm39) Y336N possibly damaging Het
Tbc1d8 C T 1: 39,445,843 (GRCm39) G116E probably damaging Het
Thrb A G 14: 17,826,963 (GRCm38) probably benign Het
Timd5 T A 11: 46,426,439 (GRCm39) I182K probably benign Het
Tln1 G T 4: 43,534,399 (GRCm39) H2253Q probably benign Het
Tmem131 A C 1: 36,893,928 (GRCm39) N158K possibly damaging Het
Toporsl A C 4: 52,611,903 (GRCm39) T599P probably benign Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Triobp C T 15: 78,858,176 (GRCm39) A1259V probably damaging Het
Zfp40 A G 17: 23,395,411 (GRCm39) I392T possibly damaging Het
Other mutations in Or4c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Or4c12 APN 2 89,773,604 (GRCm39) missense probably damaging 0.96
IGL01446:Or4c12 APN 2 89,774,282 (GRCm39) missense probably damaging 0.99
IGL01830:Or4c12 APN 2 89,773,775 (GRCm39) missense probably benign 0.03
IGL02160:Or4c12 APN 2 89,774,149 (GRCm39) missense probably damaging 1.00
PIT4280001:Or4c12 UTSW 2 89,774,087 (GRCm39) missense probably damaging 1.00
R0366:Or4c12 UTSW 2 89,774,162 (GRCm39) missense possibly damaging 0.89
R0550:Or4c12 UTSW 2 89,773,733 (GRCm39) missense probably damaging 0.99
R0587:Or4c12 UTSW 2 89,773,736 (GRCm39) missense probably damaging 1.00
R1383:Or4c12 UTSW 2 89,773,895 (GRCm39) missense probably benign 0.12
R1400:Or4c12 UTSW 2 89,773,886 (GRCm39) missense possibly damaging 0.82
R1851:Or4c12 UTSW 2 89,774,158 (GRCm39) nonsense probably null
R1953:Or4c12 UTSW 2 89,774,267 (GRCm39) missense probably damaging 1.00
R2330:Or4c12 UTSW 2 89,774,297 (GRCm39) missense probably benign
R3897:Or4c12 UTSW 2 89,774,153 (GRCm39) missense probably benign 0.24
R3955:Or4c12 UTSW 2 89,774,172 (GRCm39) missense possibly damaging 0.90
R4687:Or4c12 UTSW 2 89,774,213 (GRCm39) missense probably damaging 0.98
R4976:Or4c12 UTSW 2 89,774,147 (GRCm39) missense possibly damaging 0.77
R5119:Or4c12 UTSW 2 89,774,147 (GRCm39) missense possibly damaging 0.77
R5291:Or4c12 UTSW 2 89,773,780 (GRCm39) nonsense probably null
R5415:Or4c12 UTSW 2 89,773,731 (GRCm39) missense probably benign 0.25
R5546:Or4c12 UTSW 2 89,773,929 (GRCm39) missense probably damaging 1.00
R5588:Or4c12 UTSW 2 89,774,136 (GRCm39) missense probably benign 0.00
R6633:Or4c12 UTSW 2 89,773,710 (GRCm39) missense probably benign
R6858:Or4c12 UTSW 2 89,774,087 (GRCm39) missense probably damaging 0.99
R8261:Or4c12 UTSW 2 89,773,716 (GRCm39) missense probably benign 0.00
R8319:Or4c12 UTSW 2 89,774,024 (GRCm39) missense possibly damaging 0.87
R8771:Or4c12 UTSW 2 89,773,565 (GRCm39) missense probably benign 0.01
R8817:Or4c12 UTSW 2 89,773,790 (GRCm39) missense probably damaging 1.00
R9208:Or4c12 UTSW 2 89,773,725 (GRCm39) missense possibly damaging 0.88
R9390:Or4c12 UTSW 2 89,773,569 (GRCm39) missense probably benign 0.10
R9402:Or4c12 UTSW 2 89,774,284 (GRCm39) nonsense probably null
R9731:Or4c12 UTSW 2 89,774,316 (GRCm39) missense possibly damaging 0.67
Z1088:Or4c12 UTSW 2 89,774,114 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACTGTTGGCAGCCACAAAG -3'
(R):5'- GAGCCACCTCTCCTTGATAGATAC -3'

Sequencing Primer
(F):5'- GTGTGTCCATGCAAACAAGTTCC -3'
(R):5'- TTTACACTTCTTCTTCAGCTCCAAAG -3'
Posted On 2019-06-26