Incidental Mutation 'R6825:Or4c104'
ID 534087
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 044937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6825 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88586085-88590829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88586255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 255 (I255V)
Ref Sequence ENSEMBL: ENSMUSP00000149809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099813] [ENSMUST00000124021] [ENSMUST00000131038] [ENSMUST00000213138] [ENSMUST00000215179] [ENSMUST00000215529]
AlphaFold Q8VF94
Predicted Effect possibly damaging
Transcript: ENSMUST00000099813
AA Change: I255V

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: I255V

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: I255V

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000131038
AA Change: I255V

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213138
AA Change: I255V

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215179
Predicted Effect probably benign
Transcript: ENSMUST00000215529
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G probably damaging 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
R8205:Or4c104 UTSW 2 88,587,016 (GRCm39) start codon destroyed probably null 0.94
R8302:Or4c104 UTSW 2 88,586,987 (GRCm39) missense possibly damaging 0.70
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'- ATAGTCCCCATTCCCTAAGAAACTG -3'
(R):5'- TTCTGGTGTCCAACAGTGG -3'

Sequencing Primer
(F):5'- ATCGGAGACCTCATTTACTTTTTATC -3'
(R):5'- ACAGTGGAGCCATTTGCAC -3'
Posted On 2018-09-12