Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Agpat2'

251914

Institutional Source

Beutler Lab

Gene Symbol

Agpat2

Ensembl Gene

ENSMUSG00000026922

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 2

Synonyms

2510002J07Rik, BSCL1, LPAAT-beta

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R2849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26483069-26494429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26487251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 109 (I109T)

Ref Sequence

ENSEMBL: ENSMUSP00000115059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028286] [ENSMUST00000100290] [ENSMUST00000102907] [ENSMUST00000139801] [ENSMUST00000154753] [ENSMUST00000152988] [ENSMUST00000174211] [ENSMUST00000174066] [ENSMUST00000149789] [ENSMUST00000150404] [ENSMUST00000166920]

AlphaFold

Q8K3K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028286
AA Change: I94T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922
AA Change: I94T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
PlsC	92	207	5.17e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100290

SMART Domains

Protein: ENSMUSP00000097863
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	2.5e-19	PFAM
EGF	110	139	2.6e-4	SMART
EGF_like	144	181	4.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102907

SMART Domains

Protein: ENSMUSP00000099971
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	32	98	5.6e-21	PFAM
EGF	110	139	2.6e-4	SMART
EGF_like	144	181	4.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131940

Predicted Effect

probably benign
Transcript: ENSMUST00000139801

SMART Domains

Protein: ENSMUSP00000123465
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	6.9e-20	PFAM
low complexity region	101	125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140386

Predicted Effect

probably damaging
Transcript: ENSMUST00000154753
AA Change: I109T

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

SMART Domains

Protein: ENSMUSP00000115059
Gene: ENSMUSG00000026922
AA Change: I109T

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Acyltransferase	92	129	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173777

Predicted Effect

probably benign
Transcript: ENSMUST00000152988

Predicted Effect

probably benign
Transcript: ENSMUST00000174211

SMART Domains

Protein: ENSMUSP00000134034
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	2.7e-19	PFAM
EGF	110	139	2.6e-4	SMART
EGF_like	144	181	4.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174656

Predicted Effect

probably benign
Transcript: ENSMUST00000174066

SMART Domains

Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	64	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149789

Predicted Effect

probably benign
Transcript: ENSMUST00000150404

SMART Domains

Protein: ENSMUSP00000115482
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	2.7e-19	PFAM
EGF	110	139	2.6e-4	SMART
EGF_like	144	181	4.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166920

SMART Domains

Protein: ENSMUSP00000128741
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	2.7e-19	PFAM
EGF	110	139	2.6e-4	SMART
EGF_like	144	181	4.2e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of white and brown adipose tissue, insulin resistance, and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adcy7	A	G	8: 89,054,021 (GRCm39)	I1017V	probably benign	Het
Aldh9a1	G	A	1: 167,180,197 (GRCm39)	R97H	probably damaging	Het
Als2	G	A	1: 59,245,697 (GRCm39)	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,577,742 (GRCm39)	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Begain	T	A	12: 108,999,044 (GRCm39)	M576L	probably benign	Het
Bod1l	T	C	5: 41,995,419 (GRCm39)	N109S	probably damaging	Het
Boll	A	G	1: 55,385,532 (GRCm39)	M131T	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cers2	T	C	3: 95,229,770 (GRCm39)	F330L	probably benign	Het
Chst13	T	C	6: 90,286,140 (GRCm39)	D274G	probably benign	Het
Cimap1a	A	G	7: 140,429,182 (GRCm39)	T156A	probably benign	Het
Cstdc5	T	A	16: 36,187,814 (GRCm39)	Q17L	probably damaging	Het
Dclk2	A	G	3: 86,700,530 (GRCm39)	V649A	probably damaging	Het
Deaf1	T	C	7: 140,894,367 (GRCm39)	*54W	probably null	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fbxo32	C	T	15: 58,071,368 (GRCm39)	S71N	probably benign	Het
Fbxo42	T	A	4: 140,927,821 (GRCm39)	N700K	probably damaging	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,663,891 (GRCm39)	L121*	probably null	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,387,861 (GRCm39)	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Josd2	A	G	7: 44,118,397 (GRCm39)		probably null	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Lrp1	C	T	10: 127,378,165 (GRCm39)	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 63,924,810 (GRCm39)	N119S	probably damaging	Het
Lypd6	C	T	2: 50,055,664 (GRCm39)	P38L	probably damaging	Het
Msl3l2	T	C	10: 55,991,538 (GRCm39)	C88R	probably benign	Het
Nsd1	A	G	13: 55,361,505 (GRCm39)	T158A	probably damaging	Het
Nudt22	A	T	19: 6,970,852 (GRCm39)	S239R	probably benign	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Or52r1c	A	T	7: 102,735,319 (GRCm39)	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pcnx2	A	G	8: 126,487,666 (GRCm39)	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,162,467 (GRCm39)	K1349E	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,240,552 (GRCm39)	H392N	probably benign	Het
Slco6d1	C	T	1: 98,394,441 (GRCm39)	T375I	probably benign	Het
Smpd4	A	G	16: 17,460,076 (GRCm39)	D436G	probably damaging	Het
Spata22	G	A	11: 73,244,571 (GRCm39)	W311*	probably null	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tle6	T	A	10: 81,430,235 (GRCm39)	I306F	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trim24	T	A	6: 37,933,388 (GRCm39)	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,049,045 (GRCm39)	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,039,333 (GRCm39)	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,401,819 (GRCm39)	V92I	probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zw10	A	G	9: 48,968,941 (GRCm39)		probably null	Het

Other mutations in Agpat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03412:Agpat2	APN	2	26,483,673 (GRCm39)	missense	probably benign	0.02
R2302:Agpat2	UTSW	2	26,494,207 (GRCm39)	missense	possibly damaging	0.90
R5151:Agpat2	UTSW	2	26,487,218 (GRCm39)	missense	probably damaging	1.00
R6378:Agpat2	UTSW	2	26,486,147 (GRCm39)	missense	probably benign	0.05
R8078:Agpat2	UTSW	2	26,494,113 (GRCm39)	missense	possibly damaging	0.95
R8425:Agpat2	UTSW	2	26,483,666 (GRCm39)	missense	probably benign	0.04
R9170:Agpat2	UTSW	2	26,487,230 (GRCm39)	missense	possibly damaging	0.50
R9248:Agpat2	UTSW	2	26,483,601 (GRCm39)	makesense	probably null
R9331:Agpat2	UTSW	2	26,487,318 (GRCm39)	missense	probably benign	0.43
R9790:Agpat2	UTSW	2	26,486,395 (GRCm39)	missense	probably damaging	1.00
R9791:Agpat2	UTSW	2	26,486,395 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTGGGAAATAGCCAAAGTGG -3'
(R):5'- TTCTGTGTGCCCAAGTGTCC -3'

Sequencing Primer
(F):5'- TAGCCAAAGTGGTGCAGTCCTG -3'
(R):5'- AAGTGTCCTGTCCTGTGCCTG -3'

Posted On

2014-12-04