Incidental Mutation 'R5788:Or6c75'
ID 448162
Institutional Source Beutler Lab
Gene Symbol Or6c75
Ensembl Gene ENSMUSG00000044025
Gene Name olfactory receptor family 6 subfamily C member 75
Synonyms MOR112-1, GA_x6K02T2PULF-11179777-11180721, Olfr790
MMRRC Submission 043382-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R5788 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129336755-129337723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129336763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 3 (L3F)
Ref Sequence ENSEMBL: ENSMUSP00000151759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056002] [ENSMUST00000203966] [ENSMUST00000215067] [ENSMUST00000218901]
AlphaFold Q8VGJ3
Predicted Effect probably benign
Transcript: ENSMUST00000056002
SMART Domains Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 5.6e-53 PFAM
Pfam:7tm_1 47 296 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203966
SMART Domains Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 5.6e-53 PFAM
Pfam:7tm_1 47 296 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215067
Predicted Effect probably benign
Transcript: ENSMUST00000218901
AA Change: L3F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,045,328 (GRCm39) Y420C probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Amfr T A 8: 94,726,942 (GRCm39) R90S probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp8a2 T A 14: 60,258,242 (GRCm39) D440V probably damaging Het
Bahcc1 A G 11: 120,177,178 (GRCm39) D2022G probably damaging Het
Bicd1 T C 6: 149,385,498 (GRCm39) F77S probably benign Het
Ccdc66 C T 14: 27,220,448 (GRCm39) R255H probably benign Het
Ckm A G 7: 19,153,372 (GRCm39) D152G probably benign Het
Cpsf7 T G 19: 10,518,082 (GRCm39) S431A possibly damaging Het
Csmd1 T C 8: 16,251,980 (GRCm39) T959A probably damaging Het
Dkk4 T C 8: 23,115,347 (GRCm39) C66R probably damaging Het
Espl1 T A 15: 102,232,465 (GRCm39) W2058R probably damaging Het
Evi5l A T 8: 4,256,800 (GRCm39) probably benign Het
Fancg A T 4: 43,007,130 (GRCm39) probably benign Het
Flg2 A T 3: 93,108,296 (GRCm39) H108L probably benign Het
Fzd2 A T 11: 102,496,293 (GRCm39) T246S probably benign Het
Gm10428 T G 11: 62,644,107 (GRCm39) probably benign Het
Gm1988 T A 7: 38,821,627 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm7133 A T 1: 97,171,201 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,717,962 (GRCm39) N710S probably benign Het
Hcn2 T C 10: 79,552,945 (GRCm39) V148A possibly damaging Het
Hephl1 A G 9: 14,995,579 (GRCm39) L483S possibly damaging Het
Hinfp C T 9: 44,209,105 (GRCm39) E338K possibly damaging Het
Hsd17b4 G A 18: 50,306,776 (GRCm39) D494N probably damaging Het
Ipo4 C T 14: 55,866,277 (GRCm39) V801M probably benign Het
Kcns2 A C 15: 34,839,000 (GRCm39) Y121S probably benign Het
Kif1c T A 11: 70,599,654 (GRCm39) L462H probably damaging Het
Lrrk2 T G 15: 91,648,851 (GRCm39) V1615G possibly damaging Het
Naca G A 10: 127,876,011 (GRCm39) probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Ndufs2 A G 1: 171,066,954 (GRCm39) Y135H probably damaging Het
Nwd2 T C 5: 63,965,114 (GRCm39) V1566A probably benign Het
Or52d13 C T 7: 103,110,086 (GRCm39) V110I possibly damaging Het
Or52n4b T C 7: 108,144,551 (GRCm39) I271T probably damaging Het
Or5t17 A G 2: 86,832,645 (GRCm39) T111A probably benign Het
Pcid2 C T 8: 13,150,320 (GRCm39) probably null Het
Pld4 A C 12: 112,730,551 (GRCm39) I145L probably benign Het
Pogk A T 1: 166,236,580 (GRCm39) probably benign Het
Rhbg C T 3: 88,152,874 (GRCm39) V280I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rxfp3 A G 15: 11,036,250 (GRCm39) F374S possibly damaging Het
Son A G 16: 91,456,940 (GRCm39) probably benign Het
Specc1l G T 10: 75,112,755 (GRCm39) R994L probably damaging Het
Tas2r135 T A 6: 42,382,531 (GRCm39) D23E probably damaging Het
Teddm2 A T 1: 153,726,810 (GRCm39) H21Q probably benign Het
Tet1 T C 10: 62,675,737 (GRCm39) T780A possibly damaging Het
Thbs1 T A 2: 117,952,989 (GRCm39) D866E probably damaging Het
Tmed4 A G 11: 6,221,743 (GRCm39) W198R probably damaging Het
Ttn A T 2: 76,749,575 (GRCm39) C3825S probably benign Het
Uchl1 T A 5: 66,833,754 (GRCm39) probably benign Het
Wsb2 A G 5: 117,515,483 (GRCm39) T363A possibly damaging Het
Zfp266 A G 9: 20,417,332 (GRCm39) Y19H probably damaging Het
Zkscan17 A G 11: 59,378,086 (GRCm39) C366R probably damaging Het
Other mutations in Or6c75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Or6c75 APN 10 129,337,515 (GRCm39) missense probably damaging 1.00
IGL01575:Or6c75 APN 10 129,337,436 (GRCm39) missense probably benign 0.01
IGL02389:Or6c75 APN 10 129,336,939 (GRCm39) missense probably benign
IGL02601:Or6c75 APN 10 129,337,723 (GRCm39) makesense probably null
G5030:Or6c75 UTSW 10 129,337,406 (GRCm39) missense probably benign 0.00
R0785:Or6c75 UTSW 10 129,336,750 (GRCm39) critical splice acceptor site probably null
R0850:Or6c75 UTSW 10 129,337,593 (GRCm39) missense probably damaging 0.99
R0899:Or6c75 UTSW 10 129,337,301 (GRCm39) missense probably damaging 1.00
R1167:Or6c75 UTSW 10 129,337,019 (GRCm39) missense probably benign 0.03
R1515:Or6c75 UTSW 10 129,337,460 (GRCm39) missense probably damaging 1.00
R1557:Or6c75 UTSW 10 129,337,491 (GRCm39) missense probably damaging 1.00
R1759:Or6c75 UTSW 10 129,336,775 (GRCm39) missense probably benign 0.00
R1892:Or6c75 UTSW 10 129,336,902 (GRCm39) missense probably benign 0.02
R4296:Or6c75 UTSW 10 129,337,339 (GRCm39) nonsense probably null
R4681:Or6c75 UTSW 10 129,337,433 (GRCm39) missense probably damaging 1.00
R5046:Or6c75 UTSW 10 129,337,178 (GRCm39) missense possibly damaging 0.57
R5309:Or6c75 UTSW 10 129,337,383 (GRCm39) missense probably damaging 1.00
R5312:Or6c75 UTSW 10 129,337,383 (GRCm39) missense probably damaging 1.00
R5550:Or6c75 UTSW 10 129,337,652 (GRCm39) missense probably damaging 1.00
R5788:Or6c75 UTSW 10 129,336,779 (GRCm39) start codon destroyed probably null 0.99
R7457:Or6c75 UTSW 10 129,337,575 (GRCm39) missense probably damaging 1.00
R7782:Or6c75 UTSW 10 129,337,020 (GRCm39) missense probably benign 0.01
R7969:Or6c75 UTSW 10 129,337,716 (GRCm39) missense probably benign 0.14
R8512:Or6c75 UTSW 10 129,337,496 (GRCm39) missense probably damaging 1.00
R8966:Or6c75 UTSW 10 129,336,951 (GRCm39) missense probably damaging 0.98
R9352:Or6c75 UTSW 10 129,337,364 (GRCm39) missense probably benign 0.14
R9436:Or6c75 UTSW 10 129,336,969 (GRCm39) missense probably damaging 1.00
R9456:Or6c75 UTSW 10 129,337,515 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGTAAGAACAGAGCATTTTAAAGT -3'
(R):5'- TGGGCATCTGAGAGGGTGA -3'

Sequencing Primer
(F):5'- GCTGCAAGAGTTCATAAAATCTCTC -3'
(R):5'- TGAGGATGATAATGATGAGGTTCCC -3'
Posted On 2016-12-15