Incidental Mutation 'IGL02292:Omt2a'
ID 290091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Omt2a
Ensembl Gene ENSMUSG00000066463
Gene Name oocyte maturation, alpha
Synonyms OM2a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02292
Quality Score
Status
Chromosome 9
Chromosomal Location 78219254-78222078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78220621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 20 (R20C)
Ref Sequence ENSEMBL: ENSMUSP00000082416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085308] [ENSMUST00000113376] [ENSMUST00000166056]
AlphaFold G5E8X8
Predicted Effect possibly damaging
Transcript: ENSMUST00000085308
AA Change: R20C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082416
Gene: ENSMUSG00000066463
AA Change: R20C

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113376
SMART Domains Protein: ENSMUSP00000109003
Gene: ENSMUSG00000066463

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000166056
AA Change: R20C
SMART Domains Protein: ENSMUSP00000126342
Gene: ENSMUSG00000066463
AA Change: R20C

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173608
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,263,982 (GRCm39) M51V probably benign Het
Abcb5 C T 12: 118,881,932 (GRCm39) G599D probably damaging Het
Aim2 T A 1: 173,289,840 (GRCm39) I261N probably benign Het
Alpk3 A G 7: 80,727,653 (GRCm39) H261R possibly damaging Het
Ankrd12 G A 17: 66,349,582 (GRCm39) H84Y probably damaging Het
Ankrd17 T C 5: 90,400,718 (GRCm39) probably benign Het
Apc2 C T 10: 80,138,258 (GRCm39) P139S possibly damaging Het
Cct7 A G 6: 85,438,091 (GRCm39) Y111C probably benign Het
Cd226 G A 18: 89,225,216 (GRCm39) V38I possibly damaging Het
Cdh3 A G 8: 107,271,833 (GRCm39) Y582C probably damaging Het
Csmd1 T C 8: 16,261,884 (GRCm39) D871G probably damaging Het
Cyp4a31 A T 4: 115,423,698 (GRCm39) N133I probably damaging Het
Fem1b T C 9: 62,703,977 (GRCm39) I428V probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Flrt3 G A 2: 140,502,045 (GRCm39) P528S probably damaging Het
Gm9476 A C 10: 100,143,046 (GRCm39) noncoding transcript Het
Itgae T C 11: 73,009,361 (GRCm39) I515T probably damaging Het
Itih1 T A 14: 30,655,312 (GRCm39) probably null Het
Map3k4 A G 17: 12,454,045 (GRCm39) V1419A possibly damaging Het
Mfsd6l A T 11: 68,448,576 (GRCm39) I476L probably benign Het
Mrpl2 T C 17: 46,959,157 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,917,729 (GRCm39) L314P probably damaging Het
Msto1 C A 3: 88,819,131 (GRCm39) R205S probably benign Het
Myh9 A T 15: 77,692,196 (GRCm39) I121N probably damaging Het
Or4c11b G A 2: 88,625,631 (GRCm39) V302I probably benign Het
Pdpr G A 8: 111,852,312 (GRCm39) V560I probably damaging Het
Rimkla A T 4: 119,325,549 (GRCm39) C287S probably damaging Het
Shcbp1l T A 1: 153,311,891 (GRCm39) probably benign Het
Tm7sf2 T A 19: 6,113,598 (GRCm39) K111I probably damaging Het
Tnfrsf21 A G 17: 43,350,802 (GRCm39) E322G probably benign Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Zbtb20 T A 16: 43,431,011 (GRCm39) Y507* probably null Het
Other mutations in Omt2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Omt2a APN 9 78,220,238 (GRCm39) missense probably benign 0.01
R0532:Omt2a UTSW 9 78,220,187 (GRCm39) missense possibly damaging 0.81
R4706:Omt2a UTSW 9 78,220,352 (GRCm39) missense probably benign 0.05
R4960:Omt2a UTSW 9 78,220,305 (GRCm39) missense possibly damaging 0.46
Posted On 2015-04-16