Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Dgat2'

721913

Institutional Source

Beutler Lab

Gene Symbol

Dgat2

Ensembl Gene

ENSMUSG00000030747

Gene Name

diacylglycerol O-acyltransferase 2

Synonyms

0610010B06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98802870-98831920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98818926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 77 (V77I)

Ref Sequence

ENSEMBL: ENSMUSP00000033001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033001] [ENSMUST00000207491] [ENSMUST00000207611] [ENSMUST00000208591]

AlphaFold

Q9DCV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033001
AA Change: V77I

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: V77I

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: ENSMUST00000207611
AA Change: V47I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208591
AA Change: V77I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Col8a1	T	A	16: 57,448,539 (GRCm39)	I324F	unknown	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,512,812 (GRCm39)	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Nrbp1	T	A	5: 31,401,272 (GRCm39)	S49R	probably damaging	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Pramel12	A	T	4: 143,144,514 (GRCm39)	M287L	probably benign	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	probably benign	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
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
R9613:Dgat2	UTSW	7	98,831,692 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGCTGCCAAATGAAGAAGCC -3'
(R):5'- TTCTGTGGCCCACATTCAGC -3'

Sequencing Primer
(F):5'- GCCATACTACATCTATGGACTAAGG -3'
(R):5'- CTGTCTAGCCAGGCATCTGTG -3'

Posted On

2022-08-09