Mutagenetix > Incidental Mutation

Incidental Mutation 'R7362:Dgat2'

571419

Institutional Source

Beutler Lab

Gene Symbol

Dgat2

Ensembl Gene

ENSMUSG00000030747

Gene Name

diacylglycerol O-acyltransferase 2

Synonyms

0610010B06Rik

MMRRC Submission

045375-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98802870-98831920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98803843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 359 (H359Q)

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: H359Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: H359Q

Domain	Start	End	E-Value	Type
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: 100.0%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,295,534 (GRCm39)	R193K	probably damaging	Het
Aoc1	G	T	6: 48,882,345 (GRCm39)	V74L	probably benign	Het
Bfsp1	G	C	2: 143,668,795 (GRCm39)	P601A	probably benign	Het
Bicd1	A	C	6: 149,385,591 (GRCm39)	K108T	probably benign	Het
Btbd18	C	T	2: 84,491,887 (GRCm39)	Q23*	probably null	Het
Ccser1	A	G	6: 61,787,864 (GRCm39)	I227M	unknown	Het
Cd151	G	A	7: 141,049,502 (GRCm39)	V70I	probably benign	Het
Cdh10	A	G	15: 18,899,780 (GRCm39)	T36A	probably benign	Het
Crb2	A	G	2: 37,680,211 (GRCm39)	T380A	probably benign	Het
Csmd3	A	C	15: 47,619,388 (GRCm39)	S1829A	possibly damaging	Het
Dhdds	T	C	4: 133,698,441 (GRCm39)	T298A	probably benign	Het
Egfem1	A	G	3: 29,206,069 (GRCm39)	Q102R	probably benign	Het
Eps15	T	A	4: 109,223,439 (GRCm39)		probably null	Het
Ern1	T	A	11: 106,327,949 (GRCm39)	D61V	probably damaging	Het
Fcamr	G	A	1: 130,741,760 (GRCm39)	R511Q	possibly damaging	Het
Grhpr	T	C	4: 44,987,255 (GRCm39)	V213A	probably benign	Het
Gsx2	A	G	5: 75,236,765 (GRCm39)	D115G	possibly damaging	Het
Hoxd3	A	G	2: 74,574,563 (GRCm39)	I70V	possibly damaging	Het
Inpp5a	A	G	7: 139,158,296 (GRCm39)	I408V	probably benign	Het
Kansl3	A	T	1: 36,383,208 (GRCm39)	D759E	possibly damaging	Het
Lrrc37a	T	G	11: 103,348,335 (GRCm39)	T2787P	unknown	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mkln1	T	C	6: 31,445,103 (GRCm39)	I333T	probably benign	Het
Myt1	T	A	2: 181,439,033 (GRCm39)	V227D	probably benign	Het
Or1a1	T	C	11: 74,086,412 (GRCm39)	F28L	probably benign	Het
Or52s1	T	A	7: 102,861,861 (GRCm39)	Y265N	probably damaging	Het
Or7e171-ps1	C	T	9: 19,853,527 (GRCm39)	D70N	probably damaging	Het
Pcf11	A	G	7: 92,302,453 (GRCm39)	L1219P	possibly damaging	Het
Pde6g	T	C	11: 120,338,950 (GRCm39)	E80G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp3cb	T	A	14: 20,573,719 (GRCm39)	Q304L	probably benign	Het
Prr19	T	C	7: 25,003,343 (GRCm39)	L319P	probably damaging	Het
Prss23	C	T	7: 89,158,972 (GRCm39)	A366T	probably damaging	Het
Rock2	T	C	12: 17,008,422 (GRCm39)	L560P	probably damaging	Het
Simc1	A	T	13: 54,687,517 (GRCm39)	R95S	probably damaging	Het
Slc10a6	A	T	5: 103,776,992 (GRCm39)	V36E	probably damaging	Het
Slco1c1	A	T	6: 141,515,189 (GRCm39)	T695S	probably benign	Het
Spata31h1	T	A	10: 82,128,831 (GRCm39)	Q1393L	possibly damaging	Het
Ssh2	T	C	11: 77,340,476 (GRCm39)	F543L	probably benign	Het
Tecpr2	T	A	12: 110,907,910 (GRCm39)	V999D	possibly damaging	Het
Tnfsf10	A	T	3: 27,389,497 (GRCm39)	Y186F	probably damaging	Het
Tnk2	A	T	16: 32,494,338 (GRCm39)		probably null	Het
Tram1	T	C	1: 13,659,832 (GRCm39)	M39V	probably benign	Het
Uck2	C	T	1: 167,065,211 (GRCm39)	V36I	possibly damaging	Het
Ugcg	T	A	4: 59,217,109 (GRCm39)	M211K	probably damaging	Het
Vash2	A	T	1: 190,692,496 (GRCm39)	S226R	probably damaging	Het
Vmn1r172	T	A	7: 23,359,841 (GRCm39)	M242K	probably damaging	Het
Vmn2r82	A	T	10: 79,232,451 (GRCm39)	M817L	probably benign	Het
Vwa5b1	T	C	4: 138,321,623 (GRCm39)	N390S	probably damaging	Het
Wdr73	T	A	7: 80,550,451 (GRCm39)	D17V	probably damaging	Het
Wdr91	A	T	6: 34,866,050 (GRCm39)	S501T	possibly damaging	Het
Zfp454	A	G	11: 50,777,194 (GRCm39)		probably null	Het

Other mutations in Dgat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCATGGCAGAGTGTGGAGCTAG -3'

Sequencing Primer
(F):5'- TGACGCTTCCAAATTTACAGAAC -3'
(R):5'- TCAGAGGCCACACTCTCG -3'

Posted On

2019-09-13