Incidental Mutation 'IGL02990:Or4c115'
ID 406900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c115
Ensembl Gene ENSMUSG00000101480
Gene Name olfactory receptor family 4 subfamily C member 115
Synonyms Olfr1220, GA_x6K02T2Q125-50579531-50578596, MOR233-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02990
Quality Score
Status
Chromosome 2
Chromosomal Location 88927282-88928307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88927473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 266 (Y266C)
Ref Sequence ENSEMBL: ENSMUSP00000150812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000099806] [ENSMUST00000213288]
AlphaFold F7BL62
Predicted Effect possibly damaging
Transcript: ENSMUST00000099789
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: Y266C

DomainStartEndE-ValueType
Pfam:7tm_4 41 315 4.2e-48 PFAM
Pfam:7tm_1 51 298 4.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099806
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: Y266C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7tm_1 39 286 3.2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213288
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,054,032 (GRCm39) V205F probably benign Het
Ampd3 T C 7: 110,407,170 (GRCm39) probably benign Het
Arhgef18 G A 8: 3,494,904 (GRCm39) V388I probably benign Het
Atp6v1c2 C T 12: 17,344,741 (GRCm39) V169I probably damaging Het
Ccdc88b G T 19: 6,824,777 (GRCm39) L1328I probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cluh G A 11: 74,558,591 (GRCm39) probably null Het
Cpsf7 C A 19: 10,509,159 (GRCm39) N23K probably benign Het
Cyp4x1 A T 4: 114,978,946 (GRCm39) F191L probably benign Het
Dcn A G 10: 97,345,835 (GRCm39) T216A probably benign Het
Drosha C T 15: 12,827,353 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,050 (GRCm39) S24P probably damaging Het
Gm11733 A T 11: 117,377,809 (GRCm39) probably null Het
Hapln1 A C 13: 89,749,725 (GRCm39) Y90S probably benign Het
Igf2r C A 17: 12,929,633 (GRCm39) probably benign Het
Jade2 A G 11: 51,722,074 (GRCm39) probably benign Het
Kcnh7 A T 2: 62,536,330 (GRCm39) L1084H probably benign Het
Kif1a T C 1: 92,966,985 (GRCm39) D1155G probably damaging Het
Llgl2 A G 11: 115,745,159 (GRCm39) M958V probably benign Het
Lrp2 A G 2: 69,271,740 (GRCm39) V4064A possibly damaging Het
Mau2 A G 8: 70,474,905 (GRCm39) probably benign Het
Mllt10 T C 2: 18,128,522 (GRCm39) probably benign Het
Myo15a A G 11: 60,370,266 (GRCm39) T1009A probably benign Het
Myo6 T C 9: 80,183,685 (GRCm39) probably null Het
Neil2 G T 14: 63,429,258 (GRCm39) H12N possibly damaging Het
Nrde2 T C 12: 100,108,355 (GRCm39) E412G probably damaging Het
Or14j3 C T 17: 37,900,559 (GRCm39) M228I probably benign Het
Patl2 T G 2: 121,954,978 (GRCm39) probably null Het
Pkhd1 T C 1: 20,593,187 (GRCm39) H1642R possibly damaging Het
Ppp6r1 A G 7: 4,646,022 (GRCm39) I199T possibly damaging Het
Prom2 T A 2: 127,370,734 (GRCm39) T817S probably benign Het
Slc49a4 C A 16: 35,555,861 (GRCm39) V200F possibly damaging Het
Slc9b1 A G 3: 135,100,744 (GRCm39) probably null Het
Sv2c A T 13: 96,224,886 (GRCm39) I141K probably damaging Het
Tas2r139 A T 6: 42,118,038 (GRCm39) I57F probably damaging Het
Tep1 A G 14: 51,105,703 (GRCm39) S106P possibly damaging Het
Tnni3k T C 3: 154,663,395 (GRCm39) D319G probably benign Het
Tom1l2 C T 11: 60,121,062 (GRCm39) D461N probably damaging Het
Ugt1a10 T C 1: 87,983,601 (GRCm39) L133S probably damaging Het
Usf2 T G 7: 30,654,732 (GRCm39) Q161P probably benign Het
Vmn1r15 A G 6: 57,235,593 (GRCm39) T154A probably benign Het
Vmn2r95 C A 17: 18,672,298 (GRCm39) Y678* probably null Het
Other mutations in Or4c115
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Or4c115 APN 2 88,927,888 (GRCm39) missense probably damaging 1.00
IGL02861:Or4c115 APN 2 88,927,801 (GRCm39) missense probably benign 0.38
PIT4403001:Or4c115 UTSW 2 88,927,420 (GRCm39) missense probably benign 0.00
R0589:Or4c115 UTSW 2 88,927,606 (GRCm39) missense probably benign 0.01
R1518:Or4c115 UTSW 2 88,927,944 (GRCm39) missense probably benign 0.00
R1573:Or4c115 UTSW 2 88,928,064 (GRCm39) missense probably damaging 1.00
R1800:Or4c115 UTSW 2 88,928,050 (GRCm39) missense probably benign 0.00
R1908:Or4c115 UTSW 2 88,927,888 (GRCm39) missense probably damaging 1.00
R3409:Or4c115 UTSW 2 88,927,668 (GRCm39) missense possibly damaging 0.74
R4678:Or4c115 UTSW 2 88,927,860 (GRCm39) missense probably benign 0.00
R5856:Or4c115 UTSW 2 88,928,254 (GRCm39) missense probably benign
R5888:Or4c115 UTSW 2 88,928,269 (GRCm39) start codon destroyed probably damaging 1.00
R6961:Or4c115 UTSW 2 88,928,149 (GRCm39) missense probably benign
R7197:Or4c115 UTSW 2 88,927,626 (GRCm39) missense probably benign 0.03
R7455:Or4c115 UTSW 2 88,927,434 (GRCm39) missense probably damaging 1.00
R7894:Or4c115 UTSW 2 88,927,932 (GRCm39) missense possibly damaging 0.90
R8008:Or4c115 UTSW 2 88,928,059 (GRCm39) missense probably benign 0.35
R8139:Or4c115 UTSW 2 88,928,187 (GRCm39) missense probably benign 0.02
R8971:Or4c115 UTSW 2 88,927,891 (GRCm39) nonsense probably null
R9068:Or4c115 UTSW 2 88,927,369 (GRCm39) missense probably benign 0.00
R9290:Or4c115 UTSW 2 88,928,076 (GRCm39) missense probably damaging 1.00
R9310:Or4c115 UTSW 2 88,928,257 (GRCm39) missense probably damaging 1.00
R9717:Or4c115 UTSW 2 88,927,573 (GRCm39) missense probably benign 0.00
X0019:Or4c115 UTSW 2 88,928,240 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02