Incidental Mutation 'R1752:Or4c109'
ID 193585
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
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1752 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88817609-88818544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88817659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 296 (A296S)
Ref Sequence ENSEMBL: ENSMUSP00000150322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099804] [ENSMUST00000216026] [ENSMUST00000217469]
AlphaFold A2ATG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099804
AA Change: A296S

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: A296S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 286 4.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216026
AA Change: A296S

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217469
AA Change: A296S

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Hsd17b4 T C 18: 50,303,834 (GRCm39) S436P probably benign Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Slit3 A T 11: 35,455,480 (GRCm39) I196F probably damaging Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tet1 T A 10: 62,648,768 (GRCm39) D1888V probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Usp4 T C 9: 108,251,441 (GRCm39) Y539H probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K 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
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
R3942:Or4c109 UTSW 2 88,818,455 (GRCm39) missense probably benign 0.15
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'- TCATGCACATGCCAGAAGAACATGAG -3'
(R):5'- GCTGAAGCTTGCCTGCACTGATATAC -3'

Sequencing Primer
(F):5'- cctgcctggttctggttc -3'
(R):5'- GTTCTCTCTGAGAGCCCACAG -3'
Posted On 2014-05-23