Incidental Mutation 'R6443:Or6c214'
ID 519095
Institutional Source Beutler Lab
Gene Symbol Or6c214
Ensembl Gene ENSMUSG00000050478
Gene Name olfactory receptor family 6 subfamily C member 214
Synonyms GA_x6K02T2PULF-11434134-11433199, Olfr807, MOR117-1
MMRRC Submission 044581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6443 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129590382-129591317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 129591277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 14 (G14V)
Ref Sequence ENSEMBL: ENSMUSP00000150657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059038] [ENSMUST00000213379] [ENSMUST00000217106]
AlphaFold Q8VGI9
Predicted Effect probably damaging
Transcript: ENSMUST00000059038
AA Change: G14V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049924
Gene: ENSMUSG00000050478
AA Change: G14V

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 3.9e-45 PFAM
Pfam:7TM_GPCR_Srsx 33 302 3.4e-8 PFAM
Pfam:7tm_1 39 296 2.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213379
AA Change: G14V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217106
AA Change: G14V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.9%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,357 (GRCm39) L27P probably damaging Het
Actr6 T C 10: 89,550,733 (GRCm39) N354D probably damaging Het
Apbb1 T A 7: 105,222,970 (GRCm39) N214Y probably damaging Het
Bcar1 A T 8: 112,441,970 (GRCm39) V290E probably damaging Het
Ces1f T A 8: 94,001,993 (GRCm39) Q45L probably benign Het
Ctss A C 3: 95,454,114 (GRCm39) K221T probably benign Het
Dclre1b T A 3: 103,710,504 (GRCm39) N469I possibly damaging Het
Dnah12 C A 14: 26,600,008 (GRCm39) Q3683K probably benign Het
Dnah8 A G 17: 30,990,859 (GRCm39) I3301V probably benign Het
Ephb4 G A 5: 137,358,711 (GRCm39) G298E probably damaging Het
Eya3 T C 4: 132,439,238 (GRCm39) F455L probably damaging Het
Fkbp5 G T 17: 28,648,253 (GRCm39) A112D probably damaging Het
Glud1 T C 14: 34,061,884 (GRCm39) M468T probably benign Het
Gm5114 C A 7: 39,057,141 (GRCm39) R826L possibly damaging Het
Gramd2b G A 18: 56,618,457 (GRCm39) V222I probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lpin2 T C 17: 71,548,663 (GRCm39) S576P probably benign Het
Lrrc1 A G 9: 77,341,314 (GRCm39) F415L probably damaging Het
Mtmr3 A T 11: 4,437,358 (GRCm39) I1032K probably damaging Het
Nr5a1 G A 2: 38,600,442 (GRCm39) T75M probably damaging Het
Nwd1 G A 8: 73,388,994 (GRCm39) V141I possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,918 (GRCm39) Q134L probably benign Het
Or5ar1 T G 2: 85,671,979 (GRCm39) D52A probably damaging Het
Pla1a T C 16: 38,229,949 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,464,413 (GRCm39) S4G probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 A T 7: 28,776,503 (GRCm39) M2204K probably damaging Het
Ryr3 T C 2: 112,506,278 (GRCm39) N3428S possibly damaging Het
Slc6a4 A G 11: 76,914,027 (GRCm39) K526E probably benign Het
Slc9a8 G A 2: 167,276,741 (GRCm39) R78H probably benign Het
Sptbn1 T C 11: 30,089,429 (GRCm39) D611G possibly damaging Het
Sstr2 G A 11: 113,516,080 (GRCm39) probably null Het
Tcf7 G T 11: 52,144,765 (GRCm39) T286N probably benign Het
Txndc5 A G 13: 38,712,179 (GRCm39) M69T possibly damaging Het
Usp48 T A 4: 137,341,074 (GRCm39) V358E probably damaging Het
Vmn2r1 T A 3: 64,012,374 (GRCm39) I745K possibly damaging Het
Zfp354b A G 11: 50,813,581 (GRCm39) I448T possibly damaging Het
Zfp523 A T 17: 28,420,381 (GRCm39) T189S probably damaging Het
Other mutations in Or6c214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02586:Or6c214 APN 10 129,590,524 (GRCm39) missense possibly damaging 0.87
IGL03031:Or6c214 APN 10 129,591,238 (GRCm39) missense possibly damaging 0.94
R0691:Or6c214 UTSW 10 129,591,271 (GRCm39) missense probably damaging 1.00
R0848:Or6c214 UTSW 10 129,591,077 (GRCm39) missense probably benign 0.00
R0988:Or6c214 UTSW 10 129,590,866 (GRCm39) missense probably benign 0.03
R1880:Or6c214 UTSW 10 129,591,290 (GRCm39) missense probably benign 0.09
R1894:Or6c214 UTSW 10 129,590,943 (GRCm39) nonsense probably null
R1935:Or6c214 UTSW 10 129,590,584 (GRCm39) missense probably damaging 1.00
R2513:Or6c214 UTSW 10 129,591,021 (GRCm39) missense probably damaging 1.00
R4201:Or6c214 UTSW 10 129,590,497 (GRCm39) missense probably damaging 1.00
R4643:Or6c214 UTSW 10 129,590,824 (GRCm39) missense probably damaging 1.00
R4651:Or6c214 UTSW 10 129,591,287 (GRCm39) missense probably benign
R4652:Or6c214 UTSW 10 129,591,287 (GRCm39) missense probably benign
R4797:Or6c214 UTSW 10 129,590,390 (GRCm39) missense probably benign 0.06
R5337:Or6c214 UTSW 10 129,590,403 (GRCm39) nonsense probably null
R5597:Or6c214 UTSW 10 129,590,755 (GRCm39) missense probably damaging 1.00
R6310:Or6c214 UTSW 10 129,590,528 (GRCm39) missense probably benign 0.04
R6442:Or6c214 UTSW 10 129,591,277 (GRCm39) missense probably damaging 1.00
R6642:Or6c214 UTSW 10 129,591,232 (GRCm39) missense probably damaging 1.00
R7660:Or6c214 UTSW 10 129,590,432 (GRCm39) nonsense probably null
R7862:Or6c214 UTSW 10 129,591,224 (GRCm39) missense probably benign 0.00
R9052:Or6c214 UTSW 10 129,591,094 (GRCm39) missense possibly damaging 0.75
R9091:Or6c214 UTSW 10 129,591,148 (GRCm39) missense probably damaging 0.98
R9270:Or6c214 UTSW 10 129,591,148 (GRCm39) missense probably damaging 0.98
R9703:Or6c214 UTSW 10 129,591,286 (GRCm39) missense possibly damaging 0.57
Z1088:Or6c214 UTSW 10 129,591,208 (GRCm39) missense possibly damaging 0.77
Z1176:Or6c214 UTSW 10 129,590,693 (GRCm39) missense possibly damaging 0.93
Z1176:Or6c214 UTSW 10 129,590,557 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTATCCATGGTCACTATGCTGAC -3'
(R):5'- TTAGCAGGAAACAAAACCTTCTGC -3'

Sequencing Primer
(F):5'- TGGTCACTATGCTGACCAGGAAC -3'
(R):5'- TGCATTTAATTTCATTGTATTGCAGG -3'
Posted On 2018-05-24