Incidental Mutation 'R1726:Dgat2'
ID 198143
Institutional Source Beutler Lab
Gene Symbol Dgat2
Ensembl Gene ENSMUSG00000030747
Gene Name diacylglycerol O-acyltransferase 2
Synonyms 0610010B06Rik
MMRRC Submission 039758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1726 (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 98831623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000147074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033001] [ENSMUST00000207491] [ENSMUST00000207611] [ENSMUST00000208591]
AlphaFold Q9DCV3
Predicted Effect probably benign
Transcript: ENSMUST00000033001
AA Change: S33P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: S33P

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Pfam:DAGAT 92 388 5.3e-151 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000207491
AA Change: S33P
Predicted Effect probably benign
Transcript: ENSMUST00000207611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207893
Predicted Effect possibly damaging
Transcript: ENSMUST00000208591
AA Change: S33P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1092 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 97% (63/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G C 12: 118,838,536 (GRCm39) probably null Het
Abcb5 A T 12: 118,871,267 (GRCm39) S711T possibly damaging Het
Acoxl G A 2: 127,722,366 (GRCm39) G216R probably damaging Het
Arhgef18 A T 8: 3,504,228 (GRCm39) N949I possibly damaging Het
Bltp3a C A 17: 28,105,225 (GRCm39) probably null Het
Brip1 A T 11: 85,955,740 (GRCm39) S924R probably benign Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc141 A G 2: 76,938,700 (GRCm39) probably benign Het
Ccdc80 A T 16: 44,916,368 (GRCm39) T375S probably benign Het
Ccl11 A G 11: 81,952,546 (GRCm39) K40E possibly damaging Het
Chrnb2 A T 3: 89,668,509 (GRCm39) C269S probably damaging Het
Dip2c A G 13: 9,625,464 (GRCm39) D608G probably damaging Het
Dnah2 A T 11: 69,388,715 (GRCm39) D889E probably damaging Het
Dvl2 A T 11: 69,900,287 (GRCm39) T694S probably benign Het
Elapor1 A G 3: 108,375,184 (GRCm39) I561T possibly damaging Het
Fbf1 A G 11: 116,036,280 (GRCm39) V1100A probably benign Het
Galt G A 4: 41,756,001 (GRCm39) W22* probably null Het
Garem1 C A 18: 21,281,319 (GRCm39) V346L probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm10762 A T 2: 128,809,135 (GRCm39) probably benign Het
Gm21900 A G Y: 10,616,358 (GRCm39) probably null Het
Gm2663 T C 6: 40,974,960 (GRCm39) Y37C probably damaging Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Gm5134 C A 10: 75,828,361 (GRCm39) P314T possibly damaging Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
H2-T24 T A 17: 36,326,513 (GRCm39) M129L probably benign Het
Ikzf2 C A 1: 69,587,847 (GRCm39) R214L probably damaging Het
Insyn2a T C 7: 134,500,867 (GRCm39) probably benign Het
Itpr3 T A 17: 27,330,664 (GRCm39) L1691Q probably damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrp10 T C 14: 54,707,113 (GRCm39) L650P probably damaging Het
Mcm9 G A 10: 53,413,977 (GRCm39) P368S possibly damaging Het
Mob3b A G 4: 34,954,028 (GRCm39) M214T probably benign Het
Mrpl1 T C 5: 96,371,686 (GRCm39) V71A probably benign Het
Mrpl57 A G 14: 58,064,092 (GRCm39) E40G probably damaging Het
Mtmr9 A G 14: 63,774,547 (GRCm39) V162A possibly damaging Het
Nalcn A T 14: 123,545,816 (GRCm39) V1065E probably damaging Het
Nemp2 A G 1: 52,676,554 (GRCm39) D42G probably damaging Het
Npepps A G 11: 97,115,495 (GRCm39) L623P probably damaging Het
Olig3 A G 10: 19,232,482 (GRCm39) S36G probably benign Het
Or10j5 A G 1: 172,784,658 (GRCm39) T99A probably benign Het
Or11g26 T A 14: 50,753,636 (GRCm39) probably null Het
Or5e1 T C 7: 108,354,215 (GRCm39) S51P probably benign Het
Pcdhb14 T A 18: 37,582,647 (GRCm39) Y584* probably null Het
Pcyox1l T C 18: 61,830,849 (GRCm39) Y341C probably benign Het
Pdxdc1 A C 16: 13,656,164 (GRCm39) probably null Het
Pias4 A C 10: 80,991,689 (GRCm39) V313G probably damaging Het
Pkd1 C T 17: 24,783,150 (GRCm39) T81M probably damaging Het
Ptprm T C 17: 67,349,322 (GRCm39) I40M probably damaging Het
Reep6 T C 10: 80,170,954 (GRCm39) S277P probably benign Het
Shank3 A G 15: 89,442,189 (GRCm39) E1694G probably damaging Het
Shq1 T C 6: 100,613,996 (GRCm39) Y274C probably benign Het
Slc12a6 T A 2: 112,177,771 (GRCm39) I630N probably damaging Het
Slc14a1 T A 18: 78,159,681 (GRCm39) N15Y probably benign Het
Slc17a4 A T 13: 24,089,574 (GRCm39) Y114* probably null Het
Slc26a1 C T 5: 108,821,541 (GRCm39) G116D probably damaging Het
Smg8 G T 11: 86,971,439 (GRCm39) Y777* probably null Het
Tlr11 A T 14: 50,598,998 (GRCm39) H328L probably benign Het
Ube2c G T 2: 164,613,237 (GRCm39) A52S probably damaging Het
Unc5c A G 3: 141,523,864 (GRCm39) S806G probably damaging Het
Zfp874b A T 13: 67,622,839 (GRCm39) I153K probably damaging Het
Zkscan2 T A 7: 123,089,046 (GRCm39) E408D 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
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
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'- ATTGTCTGGGACTCCGACCTGAAC -3'
(R):5'- CCGCCCCGTTGTGAGGTTATAAAG -3'

Sequencing Primer
(F):5'- TTTGGCCAAAGTCCCTTCCT -3'
(R):5'- AGCGGCTACCTACCTCAG -3'
Posted On 2014-05-23