Incidental Mutation 'R8530:Or6d12'
ID 658988
Institutional Source Beutler Lab
Gene Symbol Or6d12
Ensembl Gene ENSMUSG00000053251
Gene Name olfactory receptor family 6 subfamily D member 12
Synonyms Olfr212, GA_x54KRFPKN04-58149882-58150865, 4931403F16Rik, MOR119-4
MMRRC Submission 068500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 116483477-116494926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116493530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 264 (I264K)
Ref Sequence ENSEMBL: ENSMUSP00000151524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075756] [ENSMUST00000218028] [ENSMUST00000220134]
AlphaFold Q7TS33
Predicted Effect probably damaging
Transcript: ENSMUST00000075756
AA Change: I264K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: I264K

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 9.3e-44 PFAM
Pfam:7tm_1 47 296 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218028
AA Change: I264K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000220134
AA Change: I264K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G C 3: 137,774,586 (GRCm39) E1258D probably damaging Het
4930407I10Rik T A 15: 81,949,587 (GRCm39) H1161Q probably damaging Het
Adam20 A G 8: 41,249,071 (GRCm39) S394G probably damaging Het
Akr1c12 A T 13: 4,320,160 (GRCm39) F310Y probably benign Het
Ank G A 15: 27,544,490 (GRCm39) A84T probably benign Het
Bcas1 A T 2: 170,229,868 (GRCm39) I244K probably damaging Het
Cacna1a T C 8: 85,339,043 (GRCm39) probably null Het
Car14 T C 3: 95,807,670 (GRCm39) H79R probably benign Het
Cd163 T C 6: 124,295,860 (GRCm39) Y735H probably damaging Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Cfi C T 3: 129,644,382 (GRCm39) T126I possibly damaging Het
Col6a4 T A 9: 105,957,704 (GRCm39) H40L probably benign Het
Dbh A G 2: 27,058,318 (GRCm39) D162G probably damaging Het
Dnah14 A G 1: 181,492,511 (GRCm39) K1657R probably damaging Het
E2f7 T A 10: 110,614,859 (GRCm39) V521D probably benign Het
Eif3g A C 9: 20,809,026 (GRCm39) S93A possibly damaging Het
Fa2h T C 8: 112,082,788 (GRCm39) E143G probably benign Het
Foxc1 C A 13: 31,991,771 (GRCm39) P194Q probably benign Het
Fyco1 A G 9: 123,669,605 (GRCm39) probably null Het
Gabrb3 T C 7: 57,461,819 (GRCm39) S256P probably damaging Het
Gcc1 C A 6: 28,420,730 (GRCm39) D196Y probably damaging Het
Herc1 T A 9: 66,325,910 (GRCm39) D1461E probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hps6 A T 19: 45,991,959 (GRCm39) probably benign Het
Macc1 A T 12: 119,409,474 (GRCm39) I81F probably damaging Het
Man2c1 G T 9: 57,038,922 (GRCm39) D111Y probably damaging Het
Mast3 A T 8: 71,240,877 (GRCm39) I240N possibly damaging Het
Matn1 A T 4: 130,677,447 (GRCm39) K219* probably null Het
Nup210 C G 6: 91,053,627 (GRCm39) A297P possibly damaging Het
Or5d43 A T 2: 88,105,154 (GRCm39) L80I probably damaging Het
Pcare T C 17: 72,059,101 (GRCm39) Y192C probably damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Phactr3 A G 2: 177,925,819 (GRCm39) N360D probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Potefam3a T C 8: 20,356,984 (GRCm38) N242S probably benign Het
Qtrt2 C A 16: 43,689,407 (GRCm39) G197V probably damaging Het
Rabep1 A T 11: 70,810,068 (GRCm39) L500F probably damaging Het
Rhof T A 5: 123,257,581 (GRCm39) D183V probably damaging Het
Shprh T C 10: 11,027,678 (GRCm39) V95A probably benign Het
Spata31d1b A T 13: 59,864,964 (GRCm39) N704I unknown Het
Tas1r2 A T 4: 139,389,460 (GRCm39) Y452F probably benign Het
Tc2n A T 12: 101,617,444 (GRCm39) F325Y possibly damaging Het
Tiam2 G T 17: 3,501,087 (GRCm39) V909L probably benign Het
Tlx1 A T 19: 45,139,524 (GRCm39) Y57F probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn2r58 A T 7: 41,513,576 (GRCm39) W356R probably damaging Het
Wars1 G A 12: 108,848,818 (GRCm39) A43V probably damaging Het
Wrn A T 8: 33,770,852 (GRCm39) I694N possibly damaging Het
Zfp120 A G 2: 149,959,168 (GRCm39) Y385H probably benign Het
Other mutations in Or6d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1477:Or6d12 UTSW 6 116,493,626 (GRCm39) missense probably damaging 1.00
R1912:Or6d12 UTSW 6 116,492,950 (GRCm39) missense probably benign 0.00
R4035:Or6d12 UTSW 6 116,493,590 (GRCm39) missense possibly damaging 0.94
R4654:Or6d12 UTSW 6 116,493,409 (GRCm39) missense probably damaging 1.00
R5284:Or6d12 UTSW 6 116,493,513 (GRCm39) nonsense probably null
R5772:Or6d12 UTSW 6 116,492,912 (GRCm39) missense possibly damaging 0.70
R6882:Or6d12 UTSW 6 116,493,395 (GRCm39) missense probably benign 0.00
R6944:Or6d12 UTSW 6 116,492,791 (GRCm39) missense possibly damaging 0.95
R7078:Or6d12 UTSW 6 116,493,632 (GRCm39) missense probably damaging 1.00
R7099:Or6d12 UTSW 6 116,493,721 (GRCm39) makesense probably null
R7205:Or6d12 UTSW 6 116,492,936 (GRCm39) missense probably damaging 1.00
R7556:Or6d12 UTSW 6 116,493,697 (GRCm39) nonsense probably null
R8155:Or6d12 UTSW 6 116,492,813 (GRCm39) missense probably benign 0.16
R9158:Or6d12 UTSW 6 116,492,791 (GRCm39) missense possibly damaging 0.95
R9205:Or6d12 UTSW 6 116,493,315 (GRCm39) missense probably benign 0.00
R9244:Or6d12 UTSW 6 116,492,782 (GRCm39) missense probably benign 0.03
R9425:Or6d12 UTSW 6 116,493,574 (GRCm39) missense possibly damaging 0.94
RF016:Or6d12 UTSW 6 116,493,004 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTCTCATGTTTAGATACCAGGTC -3'
(R):5'- AAGGGAAGGTGCATTGCTCC -3'

Sequencing Primer
(F):5'- CCAGGTCGGTTGAGATGC -3'
(R):5'- GCATTGCTCCTCTGAAATCTGGG -3'
Posted On 2021-01-18