Incidental Mutation 'R5284:Or6d12'
ID 402940
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 042841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5284 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 116483477-116494926 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 116493513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 258 (Y258*)
Ref Sequence ENSEMBL: ENSMUSP00000151524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075756] [ENSMUST00000218028] [ENSMUST00000220134]
AlphaFold Q7TS33
Predicted Effect probably null
Transcript: ENSMUST00000075756
AA Change: Y258*
SMART Domains Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: Y258*

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 9.3e-44 PFAM
Pfam:7tm_1 47 296 2e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218028
AA Change: Y258*
Predicted Effect probably null
Transcript: ENSMUST00000220134
AA Change: Y258*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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
Abcc6 T A 7: 45,630,483 (GRCm39) Q1259L probably benign Het
Arhgef26 T C 3: 62,327,052 (GRCm39) S522P probably damaging Het
Asic5 C T 3: 81,915,830 (GRCm39) P218L probably damaging Het
Atad1 T C 19: 32,664,671 (GRCm39) M248V probably benign Het
Bank1 T C 3: 135,769,915 (GRCm39) D522G probably damaging Het
Bod1l G A 5: 41,977,810 (GRCm39) S1168L probably benign Het
Cactin A G 10: 81,159,596 (GRCm39) D51G probably damaging Het
Camkk1 A G 11: 72,928,381 (GRCm39) D261G probably benign Het
Cep152 A G 2: 125,421,941 (GRCm39) S930P probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crim1 A T 17: 78,620,695 (GRCm39) R378S possibly damaging Het
Dcun1d4 T C 5: 73,680,025 (GRCm39) probably null Het
Dhdds A G 4: 133,707,523 (GRCm39) V187A probably benign Het
Ecpas C T 4: 58,836,172 (GRCm39) E723K possibly damaging Het
Egfem1 A G 3: 29,704,936 (GRCm39) E251G possibly damaging Het
Ehhadh T C 16: 21,582,094 (GRCm39) probably null Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Epb41l4a T A 18: 33,931,853 (GRCm39) T581S probably damaging Het
Erg C T 16: 95,260,102 (GRCm39) M1I probably null Het
Fastkd1 T C 2: 69,542,532 (GRCm39) T92A probably benign Het
Gabpb1 T C 2: 126,494,277 (GRCm39) H116R possibly damaging Het
Gucy2c A G 6: 136,740,041 (GRCm39) L262P possibly damaging Het
Ifi203 C T 1: 173,756,274 (GRCm39) probably benign Het
Kcnk13 A C 12: 100,027,548 (GRCm39) I208L probably benign Het
Klhl7 A G 5: 24,364,615 (GRCm39) T550A probably benign Het
Krtap12-1 G T 10: 77,556,799 (GRCm39) C114F possibly damaging Het
Myh7b A G 2: 155,474,234 (GRCm39) T1650A probably benign Het
Myo19 T A 11: 84,776,098 (GRCm39) probably null Het
Nav1 C T 1: 135,377,701 (GRCm39) W1656* probably null Het
Nup188 A T 2: 30,220,647 (GRCm39) S907C probably damaging Het
Oplah A T 15: 76,190,759 (GRCm39) H125Q probably benign Het
Pcnx1 A T 12: 81,965,803 (GRCm39) T657S probably benign Het
Phf14 C A 6: 11,997,119 (GRCm39) Q796K probably damaging Het
Plaa T C 4: 94,457,874 (GRCm39) I699V probably benign Het
Prex2 C A 1: 11,336,314 (GRCm39) S1504* probably null Het
Prpf18 G A 2: 4,650,481 (GRCm39) Q50* probably null Het
Rnf213 A G 11: 119,349,692 (GRCm39) Y3851C possibly damaging Het
Rpgrip1 A G 14: 52,386,733 (GRCm39) D726G probably damaging Het
Sacm1l T C 9: 123,415,485 (GRCm39) S487P probably damaging Het
Setdb1 G T 3: 95,234,881 (GRCm39) R941S probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Smg8 G A 11: 86,971,137 (GRCm39) S878L possibly damaging Het
Trpc4 T A 3: 54,187,368 (GRCm39) V440E probably damaging Het
Tsen15 A G 1: 152,247,624 (GRCm39) S123P probably damaging Het
Tspan12 G T 6: 21,835,466 (GRCm39) A69D probably damaging Het
Ubiad1 G A 4: 148,520,955 (GRCm39) T223M probably damaging Het
Ubtfl1 A T 9: 18,320,741 (GRCm39) K90* probably null Het
Wdr19 C T 5: 65,382,752 (GRCm39) T492I probably damaging Het
Zfp423 C T 8: 88,508,305 (GRCm39) D659N possibly damaging 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
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
R8530:Or6d12 UTSW 6 116,493,530 (GRCm39) missense probably damaging 1.00
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'- CTCATGTTTAGATACCAGGTCGG -3'
(R):5'- AAAGGGAAGGTGCATTGCTC -3'

Sequencing Primer
(F):5'- CCAGGTCGGTTGAGATGC -3'
(R):5'- GCATTGCTCCTCTGAAATCTGGG -3'
Posted On 2016-07-22