Incidental Mutation 'R8302:Or4c104'
ID 646432
Institutional Source Beutler Lab
Gene Symbol Or4c104
Ensembl Gene ENSMUSG00000089892
Gene Name olfactory receptor family 4 subfamily C member 104
Synonyms GA_x6K02T2Q125-50231574-50230642, Olfr1199, MOR230-8
MMRRC Submission 067790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R8302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88586085-88590829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88586987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 11 (I11F)
Ref Sequence ENSEMBL: ENSMUSP00000150987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099813] [ENSMUST00000124021] [ENSMUST00000131038] [ENSMUST00000213138]
AlphaFold Q8VF94
Predicted Effect possibly damaging
Transcript: ENSMUST00000099813
AA Change: I11F

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: I11F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.4e-48 PFAM
Pfam:7tm_1 39 285 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124021
AA Change: I11F

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000131038
AA Change: I11F

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213138
AA Change: I11F

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,853,406 (GRCm39) probably null Het
Ank3 T C 10: 69,840,810 (GRCm39) S1937P possibly damaging Het
Atg5 T A 10: 44,162,115 (GRCm39) D10E probably benign Het
Car12 A G 9: 66,654,879 (GRCm39) D103G probably benign Het
Cpa3 A G 3: 20,276,316 (GRCm39) Y306H probably damaging Het
Cyp2c40 A G 19: 39,796,066 (GRCm39) V104A probably damaging Het
Cyp2c66 A T 19: 39,165,078 (GRCm39) H353L probably damaging Het
Cyp2d22 A G 15: 82,256,021 (GRCm39) probably null Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Exph5 A G 9: 53,287,776 (GRCm39) E1619G possibly damaging Het
Frmd5 T A 2: 121,378,060 (GRCm39) T435S unknown Het
Gm3371 T C 14: 44,641,181 (GRCm39) R128G Het
Gper1 A G 5: 139,412,030 (GRCm39) D125G probably benign Het
Il17re C A 6: 113,443,280 (GRCm39) S340* probably null Het
Kazald1 T A 19: 45,065,278 (GRCm39) L53Q probably damaging Het
Kdm3b A T 18: 34,967,388 (GRCm39) H1731L probably damaging Het
Kif20a T C 18: 34,765,030 (GRCm39) S755P probably damaging Het
Lrch1 T C 14: 75,032,772 (GRCm39) N526S probably benign Het
Map3k8 T C 18: 4,334,064 (GRCm39) I343V probably damaging Het
Nabp1 A T 1: 51,511,498 (GRCm39) F140L probably benign Het
Ncor1 A G 11: 62,224,681 (GRCm39) S860P probably benign Het
Ndufaf5 T A 2: 140,030,698 (GRCm39) Y195N possibly damaging Het
Nsfl1c T C 2: 151,346,056 (GRCm39) L157P probably damaging Het
Or2aj5 T A 16: 19,425,116 (GRCm39) I100L probably benign Het
Or5ak24 T A 2: 85,260,430 (GRCm39) T248S possibly damaging Het
Pcdh10 A G 3: 45,335,933 (GRCm39) Y749C probably damaging Het
Plcz1 T A 6: 139,974,163 (GRCm39) K93I probably damaging Het
Plpbp T C 8: 27,539,216 (GRCm39) S109P Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Psma6 A T 12: 55,456,966 (GRCm39) Y103F probably benign Het
Ptpn3 A G 4: 57,218,514 (GRCm39) F650L probably benign Het
Pxk T C 14: 8,164,094 (GRCm38) F562S probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rgs17 C T 10: 5,812,525 (GRCm39) C58Y possibly damaging Het
Rnf6 A T 5: 146,148,334 (GRCm39) V228E probably benign Het
Sardh T C 2: 27,105,122 (GRCm39) D667G probably benign Het
Slc12a1 T A 2: 125,032,209 (GRCm39) V620D probably damaging Het
Slc39a7 A G 17: 34,249,686 (GRCm39) I153T probably damaging Het
Slc5a11 T C 7: 122,847,162 (GRCm39) V125A probably damaging Het
Slc9c1 T C 16: 45,368,058 (GRCm39) F216L probably benign Het
Strip1 A T 3: 107,533,024 (GRCm39) I208N probably damaging Het
Top1 T C 2: 160,545,496 (GRCm39) M288T probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trmt2a T C 16: 18,067,813 (GRCm39) V162A probably damaging Het
Wdr35 T C 12: 9,078,110 (GRCm39) I1167T probably benign Het
Wdr76 C A 2: 121,341,044 (GRCm39) H30N probably benign Het
Zan A G 5: 137,407,923 (GRCm39) S3624P unknown Het
Zc3h7a T C 16: 10,955,249 (GRCm39) K942E probably damaging Het
Zfp292 A G 4: 34,810,893 (GRCm39) V722A possibly damaging Het
Zfp943 A G 17: 22,211,091 (GRCm39) H59R probably benign Het
Other mutations in Or4c104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Or4c104 APN 2 88,586,500 (GRCm39) missense possibly damaging 0.83
IGL03197:Or4c104 APN 2 88,586,545 (GRCm39) missense probably damaging 0.99
R0282:Or4c104 UTSW 2 88,586,800 (GRCm39) missense probably damaging 1.00
R1564:Or4c104 UTSW 2 88,587,000 (GRCm39) missense possibly damaging 0.81
R1750:Or4c104 UTSW 2 88,586,117 (GRCm39) missense probably benign
R2139:Or4c104 UTSW 2 88,586,437 (GRCm39) missense probably damaging 1.00
R4059:Or4c104 UTSW 2 88,586,795 (GRCm39) missense probably benign
R4722:Or4c104 UTSW 2 88,586,356 (GRCm39) missense possibly damaging 0.47
R4787:Or4c104 UTSW 2 88,586,219 (GRCm39) nonsense probably null
R5595:Or4c104 UTSW 2 88,586,749 (GRCm39) missense probably damaging 0.97
R6522:Or4c104 UTSW 2 88,586,452 (GRCm39) missense probably damaging 0.99
R6825:Or4c104 UTSW 2 88,586,255 (GRCm39) missense possibly damaging 0.78
R8205:Or4c104 UTSW 2 88,587,016 (GRCm39) start codon destroyed probably null 0.94
R8413:Or4c104 UTSW 2 88,587,024 (GRCm39) start gained probably benign
R9400:Or4c104 UTSW 2 88,586,293 (GRCm39) missense possibly damaging 0.50
R9560:Or4c104 UTSW 2 88,586,290 (GRCm39) missense possibly damaging 0.56
Z1176:Or4c104 UTSW 2 88,586,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACAGTTGTAGAGAAGCAGGTGTC -3'
(R):5'- TGGGTTTCTTGAAACTGCAGAC -3'

Sequencing Primer
(F):5'- TTGTAGAGAAGCAGGTGTCAGACAAG -3'
(R):5'- TTCCATTTCAAATGCTATCCCCAAAG -3'
Posted On 2020-09-02