Incidental Mutation 'R6988:Or6c217'
ID 543093
Institutional Source Beutler Lab
Gene Symbol Or6c217
Ensembl Gene ENSMUSG00000061961
Gene Name olfactory receptor family 6 subfamily C member 217
Synonyms Olfr815, MOR113-3, GA_x6K02T2PULF-11581263-11580331
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 129737645-129738595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 129738278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 100 (F100L)
Ref Sequence ENSEMBL: ENSMUSP00000151146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071557] [ENSMUST00000216182]
AlphaFold Q8VFU0
Predicted Effect probably damaging
Transcript: ENSMUST00000071557
AA Change: F106L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071488
Gene: ENSMUSG00000061961
AA Change: F106L

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 4.2e-45 PFAM
Pfam:7tm_1 45 294 1.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216182
AA Change: F100L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,181,890 (GRCm39) L15W probably damaging Het
4930550C14Rik G A 9: 53,323,056 (GRCm39) V31I possibly damaging Het
Aadacl4fm4 A G 4: 144,412,895 (GRCm39) F15S probably benign Het
Adgre1 C T 17: 57,715,445 (GRCm39) S255F probably benign Het
Aff4 T G 11: 53,289,064 (GRCm39) S404R probably damaging Het
Akr1c19 A T 13: 4,283,757 (GRCm39) probably benign Het
Ankrd31 T A 13: 97,014,757 (GRCm39) I1342K probably damaging Het
Arhgap5 T A 12: 52,564,908 (GRCm39) D626E possibly damaging Het
Arhgef1 G A 7: 24,616,348 (GRCm39) V332I probably benign Het
AY358078 A G 14: 52,063,644 (GRCm39) E430G probably damaging Het
B4gat1 T A 19: 5,090,462 (GRCm39) I395N probably benign Het
Bub1b T A 2: 118,467,311 (GRCm39) I878N probably damaging Het
Ccdc150 C T 1: 54,394,868 (GRCm39) Q745* probably null Het
Ccl19 A T 4: 42,754,885 (GRCm39) I87N probably damaging Het
Ces2g G C 8: 105,690,540 (GRCm39) G107A probably benign Het
Chpt1 A G 10: 88,324,268 (GRCm39) V180A probably damaging Het
Col2a1 T C 15: 97,902,335 (GRCm39) T14A unknown Het
Dnah7a T C 1: 53,621,784 (GRCm39) I1114V possibly damaging Het
Dnah7c T C 1: 46,705,373 (GRCm39) I2462T possibly damaging Het
Dnah8 T C 17: 30,862,249 (GRCm39) F208S probably damaging Het
Dnhd1 A G 7: 105,363,417 (GRCm39) E3993G probably damaging Het
Erv3 C T 2: 131,697,886 (GRCm39) D158N possibly damaging Het
Exoc6 T A 19: 37,597,539 (GRCm39) F647I probably damaging Het
Fbrs G A 7: 127,078,680 (GRCm39) probably benign Het
Fgfr1op2 T C 6: 146,491,463 (GRCm39) F109L probably damaging Het
Fv1 T C 4: 147,953,728 (GRCm39) F98S possibly damaging Het
H2-M10.1 T C 17: 36,636,484 (GRCm39) K107E probably benign Het
Hspg2 A T 4: 137,256,201 (GRCm39) Q1436L probably damaging Het
Ighv1-74 T C 12: 115,766,383 (GRCm39) Y79C probably damaging Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Mnt C A 11: 74,733,635 (GRCm39) probably benign Het
Mrpl15 T C 1: 4,852,883 (GRCm39) T112A probably benign Het
Ncdn T C 4: 126,640,982 (GRCm39) D506G probably benign Het
Ogdh C T 11: 6,263,806 (GRCm39) R81* probably null Het
Or6c2 T A 10: 129,362,542 (GRCm39) S149T probably benign Het
Pole G T 5: 110,477,449 (GRCm39) V1863F probably damaging Het
Pramel5 T C 4: 144,000,577 (GRCm39) probably benign Het
Rabep1 A G 11: 70,825,363 (GRCm39) K636E probably damaging Het
Rasgrf2 T A 13: 92,033,754 (GRCm39) Y1151F probably benign Het
Rrad A G 8: 105,357,268 (GRCm39) V93A probably damaging Het
Sesn3 A T 9: 14,221,553 (GRCm39) R118* probably null Het
Slc27a3 T C 3: 90,293,597 (GRCm39) N596S probably benign Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Spata31h1 T C 10: 82,127,733 (GRCm39) D1759G possibly damaging Het
Supt20 T C 3: 54,606,018 (GRCm39) S35P probably damaging Het
Syde2 G T 3: 145,725,564 (GRCm39) R885L probably benign Het
Synm G A 7: 67,383,406 (GRCm39) L1419F probably damaging Het
Tekt2 A G 4: 126,217,236 (GRCm39) F221L probably benign Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmem39b A G 4: 129,586,941 (GRCm39) I90T possibly damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trib2 A G 12: 15,865,339 (GRCm39) S79P probably damaging Het
Usp32 T C 11: 84,900,969 (GRCm39) M1084V probably benign Het
Vmn1r181 T C 7: 23,684,272 (GRCm39) F246L probably damaging Het
Wnt16 A G 6: 22,288,510 (GRCm39) D2G probably damaging Het
Zfp462 A G 4: 55,080,716 (GRCm39) E1357G probably benign Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T probably benign Het
Other mutations in Or6c217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Or6c217 APN 10 129,738,528 (GRCm39) missense possibly damaging 0.94
IGL01901:Or6c217 APN 10 129,737,722 (GRCm39) missense probably benign 0.19
IGL02687:Or6c217 APN 10 129,737,971 (GRCm39) missense probably benign 0.00
IGL02932:Or6c217 APN 10 129,738,287 (GRCm39) nonsense probably null
IGL03327:Or6c217 APN 10 129,738,451 (GRCm39) missense possibly damaging 0.87
R0894:Or6c217 UTSW 10 129,737,751 (GRCm39) missense probably damaging 0.97
R1299:Or6c217 UTSW 10 129,737,946 (GRCm39) missense probably benign 0.32
R1544:Or6c217 UTSW 10 129,738,293 (GRCm39) nonsense probably null
R1939:Or6c217 UTSW 10 129,737,970 (GRCm39) missense probably damaging 0.96
R2379:Or6c217 UTSW 10 129,737,781 (GRCm39) missense probably damaging 0.99
R2435:Or6c217 UTSW 10 129,738,173 (GRCm39) missense possibly damaging 0.52
R2566:Or6c217 UTSW 10 129,737,964 (GRCm39) missense probably damaging 1.00
R2892:Or6c217 UTSW 10 129,737,809 (GRCm39) missense possibly damaging 0.60
R2905:Or6c217 UTSW 10 129,738,269 (GRCm39) missense possibly damaging 0.93
R4552:Or6c217 UTSW 10 129,737,992 (GRCm39) missense probably benign 0.00
R6566:Or6c217 UTSW 10 129,737,947 (GRCm39) missense probably benign 0.00
R7671:Or6c217 UTSW 10 129,738,222 (GRCm39) missense probably damaging 1.00
Z1088:Or6c217 UTSW 10 129,738,552 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGGTCAATGACATTTGAAGCAC -3'
(R):5'- CGGGAATTTAGCTATCATTGCCC -3'

Sequencing Primer
(F):5'- TCAAGGCCAATAATCAGTGGTG -3'
(R):5'- GAATTTAGCTATCATTGCCCTCACTC -3'
Posted On 2018-11-28