Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03412:Agpat2'

421861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agpat2

Ensembl Gene

ENSMUSG00000026922

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 2

Synonyms

2510002J07Rik, BSCL1, LPAAT-beta

Accession Numbers

Essential gene?

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

Stock #

IGL03412

Quality Score

Status

Chromosome

Chromosomal Location

26483069-26494429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26483673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 255 (T255A)

Ref Sequence

ENSEMBL: ENSMUSP00000028286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028286] [ENSMUST00000100290] [ENSMUST00000102907] [ENSMUST00000139801] [ENSMUST00000150404] [ENSMUST00000166920] [ENSMUST00000173920] [ENSMUST00000152713] [ENSMUST00000152988] [ENSMUST00000154753] [ENSMUST00000145575] [ENSMUST00000149789] [ENSMUST00000174066] [ENSMUST00000174211]

AlphaFold

Q8K3K7

Predicted Effect

probably benign
Transcript: ENSMUST00000028286
AA Change: T255A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922
AA Change: T255A

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

noncoding transcript
Transcript: ENSMUST00000083606

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: ENSMUST00000147351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140508

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173920

SMART Domains

Protein: ENSMUSP00000134503
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152713

Predicted Effect

probably benign
Transcript: ENSMUST00000152988

Predicted Effect

probably benign
Transcript: ENSMUST00000154753

SMART Domains

Protein: ENSMUSP00000115059
Gene: ENSMUSG00000026922

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145575

SMART Domains

Protein: ENSMUSP00000118924
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	8e-20	PFAM
EGF	110	139	2.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174572

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: 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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,390 (GRCm39)	R736*	probably null	Het
Akap3	G	A	6: 126,841,688 (GRCm39)	M102I	probably benign	Het
Cd300lb	C	A	11: 114,819,206 (GRCm39)	R5M	probably damaging	Het
Chrna5	A	T	9: 54,911,719 (GRCm39)	D69V	probably damaging	Het
Col9a1	G	A	1: 24,249,508 (GRCm39)		probably null	Het
Dnajb12	A	T	10: 59,725,895 (GRCm39)	H60L	probably benign	Het
Dnal1	T	A	12: 84,182,441 (GRCm39)	M1K	probably null	Het
Exoc7	C	T	11: 116,180,101 (GRCm39)	V655M	possibly damaging	Het
Fastkd3	A	G	13: 68,731,840 (GRCm39)	R54G	probably benign	Het
Fbln2	G	A	6: 91,248,763 (GRCm39)	D1143N	probably damaging	Het
Flii	C	T	11: 60,613,466 (GRCm39)	V174M	probably damaging	Het
Gtf2h4	T	C	17: 35,979,375 (GRCm39)	I388M	probably damaging	Het
Il20rb	A	G	9: 100,357,049 (GRCm39)	V27A	probably benign	Het
Kidins220	T	C	12: 25,049,344 (GRCm39)	S320P	probably damaging	Het
Kif1b	T	C	4: 149,359,396 (GRCm39)	S114G	probably benign	Het
Lama3	T	C	18: 12,552,239 (GRCm39)	V397A	probably damaging	Het
Man2a2	A	T	7: 80,016,746 (GRCm39)	V356D	probably damaging	Het
Mcpt9	T	G	14: 56,265,484 (GRCm39)	T72P	probably damaging	Het
Mmd	T	C	11: 90,148,429 (GRCm39)		probably null	Het
Mroh2b	G	A	15: 4,973,854 (GRCm39)	R1124Q	probably benign	Het
Mvp	T	C	7: 126,592,735 (GRCm39)	D392G	probably damaging	Het
Mycbpap	T	A	11: 94,398,927 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,080,395 (GRCm39)	H1203R	probably benign	Het
Nbeal1	T	A	1: 60,281,726 (GRCm39)	C816*	probably null	Het
Or4a70	T	A	2: 89,324,555 (GRCm39)	I34F	probably benign	Het
Or5an6	A	T	19: 12,371,743 (GRCm39)	T39S	probably damaging	Het
Pcdh12	C	T	18: 38,416,568 (GRCm39)	V186M	probably benign	Het
Pik3c2a	C	T	7: 116,017,074 (GRCm39)	E228K	probably benign	Het
Plcz1	A	C	6: 139,961,823 (GRCm39)	Y243D	probably damaging	Het
Rspo3	T	A	10: 29,411,270 (GRCm39)	I19F	possibly damaging	Het
Slc2a12	T	C	10: 22,540,868 (GRCm39)	L241P	probably damaging	Het
Slc4a10	G	A	2: 62,080,887 (GRCm39)		probably benign	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Sorcs2	T	C	5: 36,203,848 (GRCm39)	D549G	probably damaging	Het
Srsf12	G	A	4: 33,230,929 (GRCm39)	R141Q	probably damaging	Het
Stab1	T	G	14: 30,876,364 (GRCm39)	E908D	probably benign	Het
Stat6	A	T	10: 127,494,074 (GRCm39)	M634L	probably benign	Het
Tex21	A	G	12: 76,291,780 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,816,042 (GRCm39)	R1715L	probably damaging	Het
Ttll4	A	G	1: 74,726,480 (GRCm39)	I693V	probably benign	Het
Vmn1r5	A	T	6: 56,962,918 (GRCm39)	M198L	possibly damaging	Het
Vmn1r50	T	C	6: 90,085,007 (GRCm39)	Y251H	probably damaging	Het
Vmn2r59	A	G	7: 41,661,862 (GRCm39)	I651T	probably benign	Het
Wdr3	G	T	3: 100,059,293 (GRCm39)	T342K	probably benign	Het
Zbtb44	A	G	9: 30,964,763 (GRCm39)	T58A	probably benign	Het
Zeb2	A	G	2: 44,892,720 (GRCm39)		probably benign	Het
Zmym2	C	T	14: 57,197,176 (GRCm39)	Q1315*	probably null	Het
Zmym6	T	C	4: 126,986,731 (GRCm39)	I137T	probably damaging	Het

Other mutations in Agpat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2302:Agpat2	UTSW	2	26,494,207 (GRCm39)	missense	possibly damaging	0.90
R2849:Agpat2	UTSW	2	26,487,251 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02