Incidental Mutation 'R6019:Dgat2'
ID 478792
Institutional Source Beutler Lab
Gene Symbol Dgat2
Ensembl Gene ENSMUSG00000030747
Gene Name diacylglycerol O-acyltransferase 2
Synonyms 0610010B06Rik
MMRRC Submission 044193-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6019 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98802870-98831920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98803838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 361 (M361T)
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: M361T

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: M361T

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 0.1518 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 96% (81/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,201 (GRCm39) H436Y possibly damaging Het
Acad10 A T 5: 121,772,864 (GRCm39) H472Q possibly damaging Het
Ano8 G A 8: 71,935,024 (GRCm39) R393C probably damaging Het
Arhgap18 T A 10: 26,736,646 (GRCm39) V163E probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacng5 T C 11: 107,775,214 (GRCm39) M52V probably benign Het
Casz1 T C 4: 149,031,495 (GRCm39) C1249R probably damaging Het
Cenpj C T 14: 56,772,272 (GRCm39) S1086N probably benign Het
Chi3l1 T C 1: 134,117,310 (GRCm39) F367S probably benign Het
Copg2 A T 6: 30,787,868 (GRCm39) I610N possibly damaging Het
Cpa6 T C 1: 10,665,868 (GRCm39) K57E possibly damaging Het
D5Ertd579e C T 5: 36,787,036 (GRCm39) A111T possibly damaging Het
Dnm3 G T 1: 161,962,070 (GRCm39) F46L probably damaging Het
Dph7 T A 2: 24,853,552 (GRCm39) C122* probably null Het
Dspp A T 5: 104,325,905 (GRCm39) D756V unknown Het
Efcab3 T C 11: 104,933,728 (GRCm39) probably null Het
Ep300 T A 15: 81,525,583 (GRCm39) M1469K unknown Het
Fsip2 T C 2: 82,818,283 (GRCm39) I4672T possibly damaging Het
Gapdh A T 6: 125,139,996 (GRCm39) L67* probably null Het
Gpr75 A G 11: 30,841,640 (GRCm39) R182G probably benign Het
Gsr G T 8: 34,183,835 (GRCm39) A366S probably damaging Het
Gypc A G 18: 32,663,248 (GRCm39) I33T probably damaging Het
Hapln1 A G 13: 89,756,219 (GRCm39) D341G probably benign Het
Hnrnpd A G 5: 100,115,095 (GRCm39) S148P probably benign Het
Hydin A T 8: 111,293,252 (GRCm39) T3450S probably benign Het
Kif20b T C 19: 34,927,864 (GRCm39) V1002A probably benign Het
Kif5c T C 2: 49,625,521 (GRCm39) V597A probably benign Het
Kntc1 A G 5: 123,900,579 (GRCm39) T226A probably benign Het
Krt75 C A 15: 101,482,158 (GRCm39) V37L probably benign Het
L3mbtl2 A G 15: 81,571,143 (GRCm39) I668V probably benign Het
Lrp1b G A 2: 41,192,982 (GRCm39) A480V probably damaging Het
Lrp1b T A 2: 41,366,821 (GRCm39) D485V probably damaging Het
Lrrc37a T C 11: 103,347,422 (GRCm39) H3091R unknown Het
Msi1 A G 5: 115,589,550 (GRCm39) Y361C probably damaging Het
Mtus1 G T 8: 41,536,077 (GRCm39) N546K probably benign Het
Mup17 T A 4: 61,511,936 (GRCm39) T113S probably benign Het
Myh11 T A 16: 14,023,938 (GRCm39) D1479V probably damaging Het
Ncor1 C T 11: 62,263,987 (GRCm39) E198K probably benign Het
Nrde2 A G 12: 100,098,501 (GRCm39) V722A probably benign Het
Or13a28 T C 7: 140,217,925 (GRCm39) F104L probably benign Het
Or51f23 C T 7: 102,453,491 (GRCm39) R269* probably null Het
Or5ac24 C T 16: 59,165,798 (GRCm39) D89N possibly damaging Het
Otog A G 7: 45,938,374 (GRCm39) M2028V probably benign Het
Paox T A 7: 139,711,655 (GRCm39) V169E probably damaging Het
Pcsk9 T G 4: 106,314,073 (GRCm39) D174A probably benign Het
Pde4b A G 4: 102,427,966 (GRCm39) E41G possibly damaging Het
Pip4k2c A G 10: 127,034,943 (GRCm39) I419T probably damaging Het
Plekhg3 G T 12: 76,624,715 (GRCm39) E1186* probably null Het
Pole C A 5: 110,472,380 (GRCm39) P1548T probably benign Het
Pole C T 5: 110,472,381 (GRCm39) P1548L probably benign Het
Polq A G 16: 36,882,126 (GRCm39) E1430G probably damaging Het
Potefam3c A T 8: 69,881,966 (GRCm39) C337S probably benign Het
Pramel47 G A 5: 95,488,072 (GRCm39) S2N probably damaging Het
Ptgr2 T C 12: 84,344,920 (GRCm39) S98P probably damaging Het
Ralgapa1 A G 12: 55,730,827 (GRCm39) Y1903H possibly damaging Het
Rasgrp1 T C 2: 117,122,376 (GRCm39) D338G probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnase13 C T 14: 52,159,860 (GRCm39) C93Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
S100z T A 13: 95,613,934 (GRCm39) M59L probably benign Het
Ska1 T A 18: 74,332,992 (GRCm39) D142V probably benign Het
Slc16a3 T C 11: 120,847,931 (GRCm39) probably null Het
Snd1 T C 6: 28,880,233 (GRCm39) V669A probably benign Het
Snrpd3 A T 10: 75,368,029 (GRCm39) T49S probably damaging Het
Sort1 T C 3: 108,264,549 (GRCm39) L856P possibly damaging Het
Srek1ip1 T A 13: 104,970,830 (GRCm39) probably null Het
Ssrp1 T C 2: 84,875,796 (GRCm39) S552P probably damaging Het
Stab2 A G 10: 86,838,886 (GRCm39) V60A probably benign Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tll1 A C 8: 64,494,525 (GRCm39) H743Q possibly damaging Het
Tpo G T 12: 30,144,980 (GRCm39) R590S possibly damaging Het
Trbv12-1 A T 6: 41,090,780 (GRCm39) T51S probably benign Het
Trbv30 C T 6: 41,258,708 (GRCm39) A40V probably benign Het
Tulp4 T A 17: 6,283,490 (GRCm39) V1173E possibly damaging Het
Upk1a A T 7: 30,311,810 (GRCm39) probably null Het
Vinac1 T C 2: 128,879,610 (GRCm39) Q772R probably benign Het
Vmn1r199 A G 13: 22,566,769 (GRCm39) D21G possibly damaging Het
Vmn2r7 T C 3: 64,623,643 (GRCm39) T317A probably damaging Het
Wdfy3 A G 5: 101,997,289 (GRCm39) V3112A probably damaging Het
Zbtb8os T C 4: 129,234,542 (GRCm39) V40A possibly damaging Het
Zfp1002 T A 2: 150,097,132 (GRCm39) H99L probably damaging Het
Zwint A G 10: 72,492,685 (GRCm39) K108E possibly 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
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
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'- CCCATGACGCTTCCAAATTTAC -3'
(R):5'- ACTCATGGCAGAGTGTGGAG -3'

Sequencing Primer
(F):5'- TGACGCTTCCAAATTTACAGAAC -3'
(R):5'- TCAGAGGCCACACTCTCG -3'
Posted On 2017-06-26