Incidental Mutation 'IGL02631:Or4c3d'
ID 301318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c3d
Ensembl Gene ENSMUSG00000075068
Gene Name olfactory receptor family 4 subfamily C member 3D
Synonyms Olfr140, MOR235-1, GA_x6K02T2Q125-51484508-51483600, A16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02631
Quality Score
Status
Chromosome 2
Chromosomal Location 89881758-89882666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89881786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 294 (N294I)
Ref Sequence ENSEMBL: ENSMUSP00000150438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099757] [ENSMUST00000111506] [ENSMUST00000216475]
AlphaFold Q60878
Predicted Effect probably damaging
Transcript: ENSMUST00000099757
AA Change: N294I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: N294I

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.3e-30 PFAM
Pfam:7tm_4 137 278 7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111506
AA Change: N294I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: N294I

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 2.9e-48 PFAM
Pfam:7tm_1 39 285 9.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216475
AA Change: N294I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,725,506 (GRCm39) S1242P probably damaging Het
Bglap A T 3: 88,290,987 (GRCm39) Y81* probably null Het
Ccdc83 T C 7: 89,893,277 (GRCm39) D160G possibly damaging Het
Cep97 A T 16: 55,742,541 (GRCm39) C135* probably null Het
Cog1 C T 11: 113,547,304 (GRCm39) Q633* probably null Het
Cyp4f40 A T 17: 32,894,609 (GRCm39) probably benign Het
Dennd2c T A 3: 103,063,387 (GRCm39) M608K possibly damaging Het
Enpp1 A G 10: 24,517,859 (GRCm39) S855P probably damaging Het
Eprs1 T C 1: 185,160,095 (GRCm39) I1457T probably damaging Het
Fam149b G A 14: 20,425,614 (GRCm39) V300M probably damaging Het
Fcgbp T A 7: 27,784,723 (GRCm39) L261Q probably damaging Het
Flt1 G T 5: 147,610,384 (GRCm39) S413* probably null Het
Flt3 T G 5: 147,281,362 (GRCm39) D790A probably damaging Het
Gpat2 A G 2: 127,276,152 (GRCm39) probably benign Het
Gpr151 T C 18: 42,711,835 (GRCm39) K281R probably benign Het
Hoxa5 G A 6: 52,180,790 (GRCm39) R181C probably damaging Het
Irx4 C T 13: 73,416,596 (GRCm39) R331W probably damaging Het
Lmo2 T C 2: 103,811,432 (GRCm39) I155T probably benign Het
Nbeal2 G A 9: 110,459,276 (GRCm39) R1944C probably damaging Het
Obp2b A G 2: 25,629,255 (GRCm39) N141S probably damaging Het
Or4c10b T A 2: 89,711,599 (GRCm39) V143E possibly damaging Het
Papss2 T A 19: 32,611,404 (GRCm39) probably benign Het
Rapgef2 A T 3: 78,990,533 (GRCm39) M915K possibly damaging Het
Raver2 A C 4: 100,953,499 (GRCm39) D89A probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Setd2 A G 9: 110,379,644 (GRCm39) D1153G possibly damaging Het
Slc25a12 C T 2: 71,127,086 (GRCm39) G365E possibly damaging Het
Slc35e4 A C 11: 3,857,729 (GRCm39) V292G probably damaging Het
Slc36a4 T C 9: 15,638,237 (GRCm39) V221A probably damaging Het
Slc7a14 C A 3: 31,292,827 (GRCm39) A153S probably damaging Het
Smc1b T C 15: 84,991,204 (GRCm39) D658G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab3 A G X: 84,658,139 (GRCm39) N222S probably benign Het
Tdrd6 T A 17: 43,937,110 (GRCm39) T1313S probably damaging Het
Tnfrsf1b A T 4: 144,951,398 (GRCm39) C181S probably damaging Het
Trdn A T 10: 33,239,972 (GRCm39) probably null Het
Trip12 A T 1: 84,743,729 (GRCm39) V526E possibly damaging Het
Trps1 T C 15: 50,709,417 (GRCm39) D311G probably damaging Het
Ttf1 A G 2: 28,959,912 (GRCm39) I507V probably damaging Het
Unc80 A C 1: 66,569,222 (GRCm39) D959A probably damaging Het
Unc93b1 T C 19: 3,992,026 (GRCm39) probably benign Het
Utrn A G 10: 12,585,807 (GRCm39) F990S probably benign Het
V1rd19 T C 7: 23,702,825 (GRCm39) L97P probably damaging Het
Other mutations in Or4c3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Or4c3d APN 2 89,882,038 (GRCm39) missense probably damaging 1.00
IGL03354:Or4c3d APN 2 89,881,911 (GRCm39) missense probably damaging 1.00
3-1:Or4c3d UTSW 2 89,882,496 (GRCm39) missense possibly damaging 0.48
R0673:Or4c3d UTSW 2 89,882,596 (GRCm39) missense probably benign 0.04
R1355:Or4c3d UTSW 2 89,881,957 (GRCm39) missense probably benign 0.29
R1452:Or4c3d UTSW 2 89,882,015 (GRCm39) missense possibly damaging 0.68
R1719:Or4c3d UTSW 2 89,882,128 (GRCm39) missense probably damaging 1.00
R2230:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R2231:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R2232:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R4540:Or4c3d UTSW 2 89,882,494 (GRCm39) missense probably damaging 1.00
R4710:Or4c3d UTSW 2 89,882,494 (GRCm39) missense probably damaging 1.00
R5304:Or4c3d UTSW 2 89,882,257 (GRCm39) missense probably benign 0.29
R5599:Or4c3d UTSW 2 89,882,563 (GRCm39) missense probably benign 0.00
R7309:Or4c3d UTSW 2 89,881,801 (GRCm39) missense probably damaging 1.00
R7361:Or4c3d UTSW 2 89,882,089 (GRCm39) missense probably benign 0.01
R8314:Or4c3d UTSW 2 89,882,441 (GRCm39) missense probably benign 0.00
R8922:Or4c3d UTSW 2 89,882,695 (GRCm39) start gained probably benign
Z1176:Or4c3d UTSW 2 89,882,609 (GRCm39) missense probably benign
Posted On 2015-04-16