Incidental Mutation 'R4899:Or4c109'
ID 375984
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 042503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4899 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88817609-88818544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88818454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 31 (L31V)
Ref Sequence ENSEMBL: ENSMUSP00000097392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099804] [ENSMUST00000216026] [ENSMUST00000217469]
AlphaFold A2ATG3
Predicted Effect probably null
Transcript: ENSMUST00000099804
AA Change: L31V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: L31V

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: L31V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000217469
AA Change: L31V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C G 3: 40,860,304 (GRCm39) probably null Het
Adra2c A T 5: 35,437,705 (GRCm39) Y159F probably damaging Het
Alkal2 T A 12: 30,934,972 (GRCm39) S64T probably benign Het
Apbb1ip T C 2: 22,713,361 (GRCm39) V72A unknown Het
Atp13a5 A G 16: 29,197,318 (GRCm39) L13P probably damaging Het
Azin2 G A 4: 128,828,446 (GRCm39) P254S probably benign Het
Bmpr1b T C 3: 141,546,444 (GRCm39) R481G probably damaging Het
Cacna2d4 G A 6: 119,245,157 (GRCm39) W288* probably null Het
Cass4 A G 2: 172,269,789 (GRCm39) T626A probably benign Het
Cep112 T A 11: 108,497,110 (GRCm39) D683E probably damaging Het
Cfap300 A T 9: 8,022,494 (GRCm39) S243T possibly damaging Het
Chat G T 14: 32,170,934 (GRCm39) S188R possibly damaging Het
Cit A G 5: 116,001,087 (GRCm39) Y162C possibly damaging Het
Clca3a1 T A 3: 144,443,722 (GRCm39) Y676F probably damaging Het
Clec2h A G 6: 128,652,787 (GRCm39) N185D probably benign Het
Cnbd2 G T 2: 156,181,141 (GRCm39) V192F probably benign Het
Col6a3 C A 1: 90,730,149 (GRCm39) G1112V probably damaging Het
Csta2 A T 16: 36,077,731 (GRCm39) Y96F possibly damaging Het
Cyp3a25 A G 5: 145,914,481 (GRCm39) F483S possibly damaging Het
Dscam T C 16: 96,485,018 (GRCm39) E1103G probably benign Het
Dync2h1 G A 9: 7,131,921 (GRCm39) Q1629* probably null Het
Enpp6 A G 8: 47,440,118 (GRCm39) Y38C probably damaging Het
Epg5 T A 18: 78,028,272 (GRCm39) L1271Q probably damaging Het
Fam47e G A 5: 92,722,528 (GRCm39) V75I probably benign Het
Fat3 T C 9: 15,881,095 (GRCm39) D3259G probably damaging Het
Fbxw28 T C 9: 109,159,921 (GRCm39) D211G probably damaging Het
Flnc A G 6: 29,446,842 (GRCm39) N990D probably benign Het
Frat1 T G 19: 41,818,761 (GRCm39) L52R probably damaging Het
Ftmt C G 18: 52,464,658 (GRCm39) probably benign Het
H2-M1 C T 17: 36,982,112 (GRCm39) G163D probably benign Het
Hapln1 A G 13: 89,749,769 (GRCm39) K105E possibly damaging Het
Igkv17-127 G T 6: 67,838,381 (GRCm39) A31S probably benign Het
Il6st T C 13: 112,637,695 (GRCm39) L628P probably damaging Het
Kcnj6 A G 16: 94,633,472 (GRCm39) I213T probably damaging Het
Kidins220 T C 12: 25,063,442 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mertk C A 2: 128,625,845 (GRCm39) P660Q probably damaging Het
Mrtfa A G 15: 80,902,587 (GRCm39) Y241H probably damaging Het
Mtarc2 A T 1: 184,577,821 (GRCm39) I65N probably damaging Het
Napepld A G 5: 21,888,438 (GRCm39) Y4H probably benign Het
Ncam1 T A 9: 49,456,551 (GRCm39) probably null Het
Nuak2 A T 1: 132,252,724 (GRCm39) K93* probably null Het
Oat A T 7: 132,165,951 (GRCm39) D211E probably benign Het
Or1j19 A G 2: 36,676,810 (GRCm39) Q91R probably benign Het
Or2aj6 G A 16: 19,442,950 (GRCm39) A300V probably benign Het
Or51b17 A G 7: 103,542,672 (GRCm39) I90T possibly damaging Het
Or7a39 A T 10: 78,715,041 (GRCm39) S12C probably benign Het
Pde4dip C A 3: 97,616,874 (GRCm39) K1789N probably damaging Het
Piezo2 T C 18: 63,211,862 (GRCm39) I1322V possibly damaging Het
Pih1d1 A G 7: 44,803,951 (GRCm39) probably benign Het
Plekhd1 T C 12: 80,769,101 (GRCm39) S454P probably damaging Het
Polr2h G A 16: 20,539,303 (GRCm39) V89M probably damaging Het
Pptc7 G A 5: 122,422,780 (GRCm39) G17S possibly damaging Het
Pramel55 T C 5: 95,949,586 (GRCm39) V111A probably benign Het
Ptpra T C 2: 130,386,356 (GRCm39) V602A probably damaging Het
Rnf123 C T 9: 107,940,879 (GRCm39) R654H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Samsn1 A G 16: 75,675,991 (GRCm39) S135P probably damaging Het
Sgsm3 A G 15: 80,890,980 (GRCm39) N147S probably benign Het
Shoc1 T C 4: 59,062,640 (GRCm39) Y872C probably damaging Het
Slc22a29 T C 19: 8,138,933 (GRCm39) T510A probably benign Het
Smc4 T A 3: 68,939,144 (GRCm39) H978Q probably damaging Het
Sox7 G A 14: 64,185,927 (GRCm39) R321H probably damaging Het
Spred3 T C 7: 28,861,258 (GRCm39) D307G probably damaging Het
Syne2 T A 12: 75,900,875 (GRCm39) D11E probably benign Het
Top2b A T 14: 16,387,313 (GRCm38) I134F probably damaging Het
Tspan1 T A 4: 116,020,563 (GRCm39) R206* probably null Het
Ttc3 A T 16: 94,230,314 (GRCm39) N837I probably damaging Het
Vmn1r36 T C 6: 66,693,549 (GRCm39) T72A possibly damaging Het
Vmn2r10 A G 5: 109,151,324 (GRCm39) S97P probably damaging Het
Zfp2 T A 11: 50,790,841 (GRCm39) I401F probably damaging Het
Zfp629 T C 7: 127,210,190 (GRCm39) T540A possibly damaging Het
Zfr G A 15: 12,166,231 (GRCm39) V834I probably benign 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
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
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

Sequencing Primer
Posted On 2016-03-17