Incidental Mutation 'R4280:Dgat2'
ID 322843
Institutional Source Beutler Lab
Gene Symbol Dgat2
Ensembl Gene ENSMUSG00000030747
Gene Name diacylglycerol O-acyltransferase 2
Synonyms 0610010B06Rik
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4280 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98802870-98831920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98808204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 157 (I157T)
Ref Sequence ENSEMBL: ENSMUSP00000033001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033001] [ENSMUST00000207491] [ENSMUST00000208591]
AlphaFold Q9DCV3
Predicted Effect probably damaging
Transcript: ENSMUST00000033001
AA Change: I157T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: I157T

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Pfam:DAGAT 92 388 5.3e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207894
Predicted Effect probably benign
Transcript: ENSMUST00000208591
Meta Mutation Damage Score 0.9563 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutant mice die shortly after birth due to inadequate substrates for energy and impaired skin barrier function leading to dehydration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Dgat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4377001:Dgat2 UTSW 7 98,806,342 (GRCm39) missense probably damaging 1.00
R0532:Dgat2 UTSW 7 98,818,988 (GRCm39) missense possibly damaging 0.46
R1726:Dgat2 UTSW 7 98,831,623 (GRCm39) missense possibly damaging 0.83
R2386:Dgat2 UTSW 7 98,806,300 (GRCm39) missense possibly damaging 0.79
R3429:Dgat2 UTSW 7 98,806,300 (GRCm39) missense probably benign 0.05
R3430:Dgat2 UTSW 7 98,806,300 (GRCm39) missense probably benign 0.05
R3881:Dgat2 UTSW 7 98,818,950 (GRCm39) nonsense probably null
R4279:Dgat2 UTSW 7 98,813,912 (GRCm39) missense probably damaging 1.00
R4719:Dgat2 UTSW 7 98,807,504 (GRCm39) missense probably benign 0.01
R6019:Dgat2 UTSW 7 98,803,838 (GRCm39) missense probably benign 0.13
R6152:Dgat2 UTSW 7 98,813,885 (GRCm39) missense probably benign 0.20
R6868:Dgat2 UTSW 7 98,807,513 (GRCm39) missense probably benign 0.00
R7143:Dgat2 UTSW 7 98,806,331 (GRCm39) missense probably benign 0.00
R7362:Dgat2 UTSW 7 98,803,843 (GRCm39) missense probably damaging 1.00
R8147:Dgat2 UTSW 7 98,806,187 (GRCm39) missense possibly damaging 0.50
R8438:Dgat2 UTSW 7 98,806,207 (GRCm39) missense probably damaging 1.00
R8927:Dgat2 UTSW 7 98,818,710 (GRCm39) missense probably benign 0.09
R9570:Dgat2 UTSW 7 98,818,926 (GRCm39) missense possibly damaging 0.50
R9613:Dgat2 UTSW 7 98,831,692 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- ATCATCGGGGAGGCTCAAAC -3'
(R):5'- CTGAGGACAGGTTTTGGAAAGTCTC -3'

Sequencing Primer
(F):5'- GCTCAAACCTTGACAGTGGAGC -3'
(R):5'- ACAGGTTTTGGAAAGTCTCTGCTG -3'
Posted On 2015-06-20