Incidental Mutation 'R0366:Or4c12'
ID 36394
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 038572-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R0366 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89773528-89774457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89774162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 99 (V99G)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
AlphaFold Q8VEZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000090695
AA Change: V99G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: V99G

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214846
AA Change: V99G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,724 (GRCm39) S93* probably null Het
Ackr2 T C 9: 121,738,426 (GRCm39) L267P probably damaging Het
Adgre4 T A 17: 56,099,001 (GRCm39) L169* probably null Het
Ankrd12 T A 17: 66,291,501 (GRCm39) S1311C possibly damaging Het
Arid2 T A 15: 96,259,601 (GRCm39) probably benign Het
Atp9b A T 18: 80,805,317 (GRCm39) V747E probably damaging Het
Best1 T C 19: 9,969,417 (GRCm39) probably null Het
Brwd1 C A 16: 95,839,164 (GRCm39) E836* probably null Het
Cachd1 A G 4: 100,851,934 (GRCm39) S1177G possibly damaging Het
Cacna1e C T 1: 154,291,884 (GRCm39) E1766K probably benign Het
Cckar A G 5: 53,857,507 (GRCm39) I301T probably benign Het
Cdc27 T G 11: 104,396,474 (GRCm39) T816P probably damaging Het
Cep162 T G 9: 87,102,537 (GRCm39) Q708H probably damaging Het
Cep250 C A 2: 155,830,321 (GRCm39) D1301E probably benign Het
D430041D05Rik G A 2: 104,085,685 (GRCm39) H955Y probably damaging Het
Dcdc2a T A 13: 25,240,417 (GRCm39) V55E probably damaging Het
Efcab12 A G 6: 115,800,209 (GRCm39) probably benign Het
Ep400 A G 5: 110,849,537 (GRCm39) V1428A unknown Het
Erbb3 T C 10: 128,408,439 (GRCm39) E825G possibly damaging Het
Evl A T 12: 108,652,307 (GRCm39) probably null Het
Fuca2 G A 10: 13,381,507 (GRCm39) R140H probably benign Het
Gm5581 T C 6: 131,143,410 (GRCm39) noncoding transcript Het
Gm7052 T C 17: 22,259,498 (GRCm39) probably benign Het
Gpd1 T G 15: 99,617,151 (GRCm39) I119S probably damaging Het
Gzmc A T 14: 56,470,193 (GRCm39) Y101* probably null Het
Hmcn2 G T 2: 31,314,218 (GRCm39) A3588S possibly damaging Het
Ikbkb A G 8: 23,185,276 (GRCm39) probably benign Het
Itgax G T 7: 127,748,261 (GRCm39) probably benign Het
Kif24 C A 4: 41,428,717 (GRCm39) S81I possibly damaging Het
Lct G A 1: 128,214,199 (GRCm39) P1858S probably benign Het
Map2k1 C A 9: 64,100,984 (GRCm39) probably null Het
Mdga1 A G 17: 30,076,682 (GRCm39) V30A possibly damaging Het
Meiosin T A 7: 18,840,964 (GRCm39) I57F probably damaging Het
Mtcl1 G A 17: 66,645,124 (GRCm39) P1441L probably damaging Het
N4bp2 T A 5: 65,963,739 (GRCm39) F596Y possibly damaging Het
Notch4 A T 17: 34,800,473 (GRCm39) probably benign Het
Or2l5 A G 16: 19,333,598 (GRCm39) S263P probably benign Het
Or6c1 A G 10: 129,517,840 (GRCm39) M256T possibly damaging Het
Or8b44 T A 9: 38,410,450 (GRCm39) C162S possibly damaging Het
Or8k25 A G 2: 86,244,369 (GRCm39) V9A possibly damaging Het
Pbld2 A G 10: 62,889,736 (GRCm39) probably benign Het
Phip T C 9: 82,808,460 (GRCm39) Y505C probably damaging Het
Plcb2 A G 2: 118,554,928 (GRCm39) F58L probably benign Het
Plcd1 T A 9: 118,910,204 (GRCm39) I72F probably damaging Het
Ppp5c A T 7: 16,756,508 (GRCm39) Y63* probably null Het
Prdm4 T C 10: 85,743,868 (GRCm39) D129G probably damaging Het
Prkcq C A 2: 11,251,649 (GRCm39) probably benign Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rab7b T A 1: 131,626,242 (GRCm39) V90D probably damaging Het
Ripk3 T C 14: 56,024,292 (GRCm39) T193A probably damaging Het
Rnf167 C T 11: 70,540,143 (GRCm39) R88* probably null Het
Robo1 A G 16: 72,539,133 (GRCm39) T59A possibly damaging Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Scg3 T A 9: 75,582,620 (GRCm39) probably benign Het
Sec31a A T 5: 100,530,625 (GRCm39) L677H probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Setd7 T C 3: 51,457,741 (GRCm39) T29A probably benign Het
Shoc1 A C 4: 59,099,410 (GRCm39) M94R probably benign Het
Slc4a5 A G 6: 83,272,854 (GRCm39) Y942C probably benign Het
Slit1 T A 19: 41,599,470 (GRCm39) Y1027F probably damaging Het
Sptan1 G A 2: 29,882,764 (GRCm39) probably null Het
Tdrd12 T C 7: 35,208,227 (GRCm39) Q249R probably benign Het
Tmem171 T A 13: 98,828,736 (GRCm39) D138V possibly damaging Het
Ttll10 G A 4: 156,119,612 (GRCm39) R596W probably damaging Het
Usp53 G T 3: 122,742,850 (GRCm39) N695K probably damaging Het
Vmn2r25 A T 6: 123,800,581 (GRCm39) L587* probably null Het
Zglp1 C T 9: 20,974,675 (GRCm39) C171Y probably benign 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
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
R7294:Or4c12 UTSW 2 89,774,068 (GRCm39) nonsense probably null
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'- TGTTGGCAGCCACAAAGAGACC -3'
(R):5'- TCAACAGCCAGGCTCTGAATTCCC -3'

Sequencing Primer
(F):5'- GTGTGTCCATGCAAACAAGTTC -3'
(R):5'- AATTCCCCCATGTATTTCTTCCTGAG -3'
Posted On 2013-05-09