Incidental Mutation 'R6868:Dgat2'
ID 536021
Institutional Source Beutler Lab
Gene Symbol Dgat2
Ensembl Gene ENSMUSG00000030747
Gene Name diacylglycerol O-acyltransferase 2
Synonyms 0610010B06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 98802870-98831920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98807513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000033001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033001] [ENSMUST00000207491] [ENSMUST00000208591]
AlphaFold Q9DCV3
Predicted Effect probably benign
Transcript: ENSMUST00000033001
AA Change: D219G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: D219G

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 probably benign
Transcript: ENSMUST00000208591
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A T 16: 14,436,559 (GRCm39) N204I probably damaging Het
Aasdh C T 5: 77,039,527 (GRCm39) V261M probably damaging Het
Adgrg7 A G 16: 56,593,839 (GRCm39) F126L probably benign Het
Agxt2 T C 15: 10,373,855 (GRCm39) L87P probably damaging Het
Alcam G A 16: 52,088,748 (GRCm39) S554F probably damaging Het
Ambra1 T C 2: 91,747,878 (GRCm39) S1205P possibly damaging Het
Bst2 A C 8: 71,987,404 (GRCm39) V150G unknown Het
C3 T C 17: 57,511,029 (GRCm39) Y1659C possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cdk4 T C 10: 126,900,870 (GRCm39) V174A probably benign Het
Ces2h T A 8: 105,745,055 (GRCm39) N396K probably benign Het
Cfap144 C T 11: 58,683,732 (GRCm39) D113N probably damaging Het
Chd7 T C 4: 8,811,501 (GRCm39) probably null Het
Cnih4 A G 1: 180,993,762 (GRCm39) I76V probably null Het
Csmd2 G A 4: 128,336,633 (GRCm39) V1404I probably benign Het
Ctrb1 T C 8: 112,416,035 (GRCm39) D53G probably benign Het
Cul9 C A 17: 46,833,109 (GRCm39) R1323L possibly damaging Het
Dchs1 A G 7: 105,412,710 (GRCm39) V1230A possibly damaging Het
Dgkh T C 14: 78,862,293 (GRCm39) T225A probably damaging Het
Dock9 G T 14: 121,823,676 (GRCm39) A1412E probably benign Het
Dscam C T 16: 96,631,140 (GRCm39) V292M probably damaging Het
Fras1 T A 5: 96,830,237 (GRCm39) V1509E probably benign Het
Fryl T C 5: 73,226,146 (GRCm39) Q1839R probably damaging Het
Gcat A G 15: 78,919,566 (GRCm39) D177G probably damaging Het
Gss T C 2: 155,409,732 (GRCm39) T235A possibly damaging Het
Ints10 T A 8: 69,250,450 (GRCm39) M114K probably damaging Het
Ints5 T G 19: 8,874,750 (GRCm39) L903R probably damaging Het
Lipo2 G T 19: 33,725,862 (GRCm39) P130Q possibly damaging Het
Megf11 G A 9: 64,587,591 (GRCm39) C494Y probably damaging Het
Milr1 T C 11: 106,654,747 (GRCm39) Y162H probably damaging Het
Mrc2 T A 11: 105,219,244 (GRCm39) I278N probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Myh15 G A 16: 48,889,766 (GRCm39) C119Y probably damaging Het
Nap1l1 G A 10: 111,330,669 (GRCm39) G358D probably damaging Het
Nav3 T C 10: 109,529,027 (GRCm39) I2178V possibly damaging Het
Nkx2-5 T C 17: 27,060,268 (GRCm39) E21G probably damaging Het
Nos2 C T 11: 78,848,332 (GRCm39) R967C probably benign Het
Or6c215 T C 10: 129,638,037 (GRCm39) D119G probably damaging Het
Parp10 T C 15: 76,127,306 (GRCm39) R44G probably damaging Het
Pced1b A G 15: 97,282,222 (GRCm39) H87R probably damaging Het
Ppfia3 T A 7: 45,003,036 (GRCm39) L524F probably damaging Het
Ppp1r12b T C 1: 134,814,176 (GRCm39) T376A probably benign Het
Ppp4r4 T C 12: 103,557,111 (GRCm39) L449P probably damaging Het
Prkd1 T C 12: 50,472,320 (GRCm39) R198G probably damaging Het
Pth2r C A 1: 65,427,638 (GRCm39) A437E probably benign Het
Ptprh A T 7: 4,604,864 (GRCm39) I60N probably benign Het
Pxmp2 C T 5: 110,433,846 (GRCm39) R9Q probably damaging Het
Scarb2 T C 5: 92,633,168 (GRCm39) K55E probably benign Het
Slc18b1 T C 10: 23,680,132 (GRCm39) V109A possibly damaging Het
Slx4ip T A 2: 136,842,130 (GRCm39) D18E probably damaging Het
Stk40 A G 4: 126,017,607 (GRCm39) R45G probably damaging Het
Tbxas1 A T 6: 39,061,240 (GRCm39) Q513L probably damaging Het
Tcf4 A T 18: 69,790,721 (GRCm39) probably null Het
Tmc6 T A 11: 117,665,143 (GRCm39) I377F probably benign Het
Tmem131l T C 3: 83,868,938 (GRCm39) I146V probably damaging Het
Trac T A 14: 54,458,049 (GRCm39) probably benign Het
Trpm7 T C 2: 126,679,334 (GRCm39) D409G probably damaging Het
Usp39 A T 6: 72,314,734 (GRCm39) V224E possibly damaging Het
Vmn1r184 A C 7: 25,966,727 (GRCm39) M158L probably benign Het
Vmn2r120 T A 17: 57,852,218 (GRCm39) I33L probably benign 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
R4280:Dgat2 UTSW 7 98,808,204 (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
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'- TGGACTTGTGTGAAGGCAC -3'
(R):5'- GCTAGGGCTTCATAGATCTTGC -3'

Sequencing Primer
(F):5'- ACTTACCCATGGCGCAGG -3'
(R):5'- GCTGAATTTTCTCAAAACCACTCTG -3'
Posted On 2018-10-18