Incidental Mutation 'IGL03354:Or4c3d'
ID 419834
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: 0.104) question?
Stock # IGL03354
Quality Score
Status
Chromosome 2
Chromosomal Location 89881758-89882666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89881911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 252 (C252W)
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: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: C252W

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: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: C252W

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: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,041 (GRCm39) A309T possibly damaging Het
Abca15 C A 7: 119,993,711 (GRCm39) Y1310* probably null Het
Adad1 G T 3: 37,160,322 (GRCm39) C552F probably damaging Het
Adam22 A G 5: 8,208,890 (GRCm39) S180P possibly damaging Het
Anxa10 A T 8: 62,549,778 (GRCm39) D22E probably damaging Het
Astn1 T C 1: 158,516,174 (GRCm39) S1255P probably damaging Het
Bhlhe41 T C 6: 145,809,929 (GRCm39) T92A probably damaging Het
Bicc1 G A 10: 70,782,432 (GRCm39) P603S probably benign Het
Camk2d T C 3: 126,590,615 (GRCm39) probably null Het
Ccdc136 T A 6: 29,419,102 (GRCm39) I808N probably damaging Het
Cd200r3 C T 16: 44,773,960 (GRCm39) A124V possibly damaging Het
Cfap70 T C 14: 20,482,050 (GRCm39) E310G probably damaging Het
Cyp2d12 A T 15: 82,443,162 (GRCm39) D357V probably damaging Het
Dnah7b G A 1: 46,124,849 (GRCm39) V173I probably damaging Het
Dnajb4 T A 3: 151,892,115 (GRCm39) E239D probably benign Het
Dzip1 G A 14: 119,149,981 (GRCm39) probably benign Het
Emp2 A G 16: 10,103,429 (GRCm39) I74T probably damaging Het
Ermn T G 2: 57,942,634 (GRCm39) E32A probably benign Het
F10 C A 8: 13,095,089 (GRCm39) T82N probably benign Het
Fam227a T C 15: 79,520,951 (GRCm39) D295G possibly damaging Het
Gm527 T A 12: 64,969,154 (GRCm39) F194I probably damaging Het
Gmcl1 G A 6: 86,703,140 (GRCm39) T98M probably damaging Het
Gucy2g T C 19: 55,221,512 (GRCm39) R330G possibly damaging Het
H1f4 C T 13: 23,806,060 (GRCm39) probably benign Het
Kif1a T C 1: 92,987,957 (GRCm39) H549R probably damaging Het
Klhl14 T A 18: 21,784,785 (GRCm39) D214V probably damaging Het
Lipo2 A G 19: 33,708,270 (GRCm39) F248S probably benign Het
Mctp2 C T 7: 71,810,992 (GRCm39) V661I probably benign Het
Myh15 A T 16: 48,992,373 (GRCm39) M1616L probably benign Het
Nlrp4b A T 7: 10,448,465 (GRCm39) I223F probably damaging Het
Or1j18 A T 2: 36,624,524 (GRCm39) S64C possibly damaging Het
Or1j18 G T 2: 36,624,525 (GRCm39) S64I possibly damaging Het
Or2ad1 T C 13: 21,326,654 (GRCm39) Y191C probably damaging Het
Or2ag2 A G 7: 106,485,307 (GRCm39) V239A probably benign Het
Or2b28 T C 13: 21,531,686 (GRCm39) V196A possibly damaging Het
Or5p80 T A 7: 108,229,735 (GRCm39) C179S possibly damaging Het
Or5w1b T C 2: 87,475,939 (GRCm39) N176S probably damaging Het
Pcsk4 T C 10: 80,161,893 (GRCm39) D116G probably damaging Het
Pibf1 A G 14: 99,388,174 (GRCm39) D440G probably benign Het
Plekho2 T C 9: 65,466,703 (GRCm39) E129G probably null Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rars1 A G 11: 35,715,302 (GRCm39) L248P probably damaging Het
Ruvbl1 C A 6: 88,456,197 (GRCm39) Y90* probably null Het
Schip1 A G 3: 68,402,298 (GRCm39) D125G possibly damaging Het
Skic3 T C 13: 76,330,941 (GRCm39) V1457A possibly damaging Het
Smarca2 T C 19: 26,597,303 (GRCm39) S62P probably benign Het
Sort1 T C 3: 108,256,022 (GRCm39) V656A probably benign Het
Tlr12 A G 4: 128,509,730 (GRCm39) L840P probably damaging Het
Trpm3 T A 19: 22,834,082 (GRCm39) I438N probably damaging Het
Wdr11 C A 7: 129,227,026 (GRCm39) F829L probably benign Het
Zdhhc11 A T 13: 74,127,264 (GRCm39) I214F possibly damaging Het
Other mutations in Or4c3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Or4c3d APN 2 89,882,038 (GRCm39) missense probably damaging 1.00
IGL02631:Or4c3d APN 2 89,881,786 (GRCm39) missense probably damaging 0.97
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 2016-08-02