Incidental Mutation 'R3942:Or4c109'
ID 312893
Institutional Source Beutler Lab
Gene Symbol Or4c109
Ensembl Gene ENSMUSG00000075110
Gene Name olfactory receptor family 4 subfamily C member 109
Synonyms GA_x6K02T2Q125-50468705-50467770, MOR233-8, Olfr1214
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88817609-88818544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88818455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 30 (L30F)
Ref Sequence ENSEMBL: ENSMUSP00000150322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099804] [ENSMUST00000216026] [ENSMUST00000217469]
AlphaFold A2ATG3
Predicted Effect probably benign
Transcript: ENSMUST00000099804
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: L30F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 286 4.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216026
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217469
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly damaging Het
Other mutations in Or4c109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02650:Or4c109 APN 2 88,818,424 (GRCm39) missense probably benign 0.00
IGL03409:Or4c109 APN 2 88,817,931 (GRCm39) missense possibly damaging 0.93
R0046:Or4c109 UTSW 2 88,817,693 (GRCm39) missense probably benign 0.00
R0046:Or4c109 UTSW 2 88,817,693 (GRCm39) missense probably benign 0.00
R0503:Or4c109 UTSW 2 88,818,322 (GRCm39) missense probably benign 0.01
R0688:Or4c109 UTSW 2 88,817,939 (GRCm39) missense probably damaging 1.00
R1120:Or4c109 UTSW 2 88,818,423 (GRCm39) missense possibly damaging 0.51
R1752:Or4c109 UTSW 2 88,817,659 (GRCm39) missense possibly damaging 0.60
R2018:Or4c109 UTSW 2 88,818,489 (GRCm39) missense probably benign 0.06
R2281:Or4c109 UTSW 2 88,817,814 (GRCm39) missense probably benign 0.03
R2509:Or4c109 UTSW 2 88,817,775 (GRCm39) missense probably damaging 1.00
R2862:Or4c109 UTSW 2 88,817,664 (GRCm39) missense probably benign
R4894:Or4c109 UTSW 2 88,817,783 (GRCm39) missense possibly damaging 0.83
R4899:Or4c109 UTSW 2 88,818,454 (GRCm39) missense probably null 0.13
R5089:Or4c109 UTSW 2 88,818,516 (GRCm39) missense probably damaging 1.00
R5253:Or4c109 UTSW 2 88,818,444 (GRCm39) missense possibly damaging 0.67
R5338:Or4c109 UTSW 2 88,817,809 (GRCm39) missense possibly damaging 0.87
R6476:Or4c109 UTSW 2 88,817,721 (GRCm39) missense probably benign 0.06
R8411:Or4c109 UTSW 2 88,818,409 (GRCm39) missense probably benign 0.26
R9209:Or4c109 UTSW 2 88,818,057 (GRCm39) nonsense probably null
R9650:Or4c109 UTSW 2 88,818,006 (GRCm39) nonsense probably null
Z1177:Or4c109 UTSW 2 88,818,225 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AAGTGCACAGCAAAGACCTG -3'
(R):5'- TCAGGTATGGCTTCTAATGTCTTC -3'

Sequencing Primer
(F):5'- GACCTGTGTCATACAACATTCAAAAG -3'
(R):5'- GAGAGCTGAAATGTCAAATGTGATTC -3'
Posted On 2015-04-30