Incidental Mutation 'IGL02220:Or4c3d'
ID 285104
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 # IGL02220
Quality Score
Status
Chromosome 2
Chromosomal Location 89881758-89882666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89882038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 210 (L210P)
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: L210P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: L210P

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: L210P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: L210P

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: L210P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
Acsm4 A G 7: 119,310,395 (GRCm39) D460G probably damaging Het
Ankrd9 T C 12: 110,943,933 (GRCm39) M1V probably null Het
Anks1 T C 17: 28,273,681 (GRCm39) I977T probably damaging Het
Bcar1 T C 8: 112,437,839 (GRCm39) D767G possibly damaging Het
Bcl6 A T 16: 23,793,641 (GRCm39) I102N probably damaging Het
Cacna2d2 G A 9: 107,392,078 (GRCm39) G473D probably damaging Het
Cdh23 G T 10: 60,140,903 (GRCm39) H3148Q probably damaging Het
Col6a4 A G 9: 105,940,141 (GRCm39) V1263A possibly damaging Het
Crtc2 T C 3: 90,166,455 (GRCm39) probably benign Het
D130043K22Rik G A 13: 25,067,738 (GRCm39) G825S possibly damaging Het
Dera T A 6: 137,757,815 (GRCm39) probably null Het
Dnah17 G T 11: 117,963,793 (GRCm39) Y2506* probably null Het
Enam T A 5: 88,652,418 (GRCm39) L1309* probably null Het
Fbxo15 G A 18: 84,982,317 (GRCm39) probably null Het
Fgfbp1 T C 5: 44,136,828 (GRCm39) K155E probably damaging Het
Foxj2 C T 6: 122,815,540 (GRCm39) probably benign Het
Fuca1 A G 4: 135,666,530 (GRCm39) probably benign Het
Gad1-ps T A 10: 99,281,184 (GRCm39) noncoding transcript Het
H2-Eb2 C T 17: 34,544,661 (GRCm39) probably benign Het
Insr A T 8: 3,209,578 (GRCm39) F1168L probably damaging Het
Isx T A 8: 75,619,333 (GRCm39) V175E possibly damaging Het
Kansl3 T C 1: 36,407,070 (GRCm39) probably benign Het
Lin9 T C 1: 180,494,932 (GRCm39) I218T probably damaging Het
Llgl2 C A 11: 115,736,205 (GRCm39) A126D possibly damaging Het
Ltbp2 T C 12: 84,876,083 (GRCm39) E488G possibly damaging Het
Maml3 A G 3: 51,597,639 (GRCm39) V369A possibly damaging Het
Mthfsl A G 9: 88,597,708 (GRCm39) I14T probably damaging Het
Myo3b A G 2: 70,119,923 (GRCm39) probably benign Het
Nfkbil1 T C 17: 35,439,722 (GRCm39) R264G possibly damaging Het
Pde5a G T 3: 122,542,031 (GRCm39) A174S probably benign Het
Plch1 A T 3: 63,606,382 (GRCm39) I1173N probably damaging Het
Ppfia1 C A 7: 144,035,512 (GRCm39) R1171L probably damaging Het
Prom1 T C 5: 44,172,131 (GRCm39) D595G probably damaging Het
Ptprz1 T C 6: 23,042,742 (GRCm39) probably benign Het
Samsn1 A G 16: 75,680,763 (GRCm39) probably null Het
Sbno2 T A 10: 79,908,202 (GRCm39) T66S probably benign Het
Serpina1c T A 12: 103,862,338 (GRCm39) I326F probably damaging Het
Slc12a1 T C 2: 125,030,190 (GRCm39) probably null Het
Slc18a2 A G 19: 59,264,988 (GRCm39) E324G probably benign Het
Slc40a1 A T 1: 45,950,495 (GRCm39) M319K probably damaging Het
Slc44a5 T C 3: 153,956,608 (GRCm39) Y287H possibly damaging Het
Stx4a A G 7: 127,441,672 (GRCm39) E63G possibly damaging Het
Sv2a T C 3: 96,098,032 (GRCm39) F545S probably benign Het
Svop T C 5: 114,203,589 (GRCm39) D65G probably benign Het
Tex30 A T 1: 44,126,182 (GRCm39) S182R probably benign Het
Tmem121b T C 6: 120,469,298 (GRCm39) D473G probably damaging Het
Tnfrsf19 C A 14: 61,210,941 (GRCm39) probably benign Het
Tnrc6a T C 7: 122,769,679 (GRCm39) S490P probably benign Het
Ubr4 A G 4: 139,115,746 (GRCm39) T82A probably benign Het
Vps16 A G 2: 130,283,573 (GRCm39) D589G possibly damaging Het
Zscan29 A C 2: 120,997,170 (GRCm39) S184A probably damaging Het
Other mutations in Or4c3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Or4c3d APN 2 89,881,786 (GRCm39) missense probably damaging 0.97
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