Mutagenetix > Incidental Mutation

Incidental Mutation 'R5151:Agpat2'

475454

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

042733-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R5151 (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 26487218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 120 (M120T)

Ref Sequence

ENSEMBL: ENSMUSP00000115059 (fasta)

Gene Model

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

AlphaFold

Q8K3K7

Predicted Effect

probably benign
Transcript: ENSMUST00000028286
AA Change: M105T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922
AA Change: M105T

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: M120T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115059
Gene: ENSMUSG00000026922
AA Change: M120T

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: ENSMUST00000174465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173777

Predicted Effect

probably benign
Transcript: ENSMUST00000149789

Predicted Effect

probably benign
Transcript: ENSMUST00000174656

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: ENSMUST00000152988

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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	A	15: 101,108,651 (GRCm39)	C476S	probably damaging	Het
Ahnak	A	G	19: 8,994,933 (GRCm39)	T5406A	probably benign	Het
Ano4	A	G	10: 88,948,775 (GRCm39)	F112L	probably damaging	Het
Arhgef11	T	A	3: 87,642,667 (GRCm39)	V1371D	probably damaging	Het
Ascc3	A	G	10: 50,514,059 (GRCm39)	N286S	probably damaging	Het
Ate1	T	C	7: 130,109,394 (GRCm39)	K202E	possibly damaging	Het
Cacna1d	T	C	14: 29,845,280 (GRCm39)	T630A	probably damaging	Het
Ccdc187	G	T	2: 26,183,451 (GRCm39)	T183N	probably damaging	Het
Cdk12	C	T	11: 98,140,749 (GRCm39)		probably benign	Het
Ciita	A	G	16: 10,341,594 (GRCm39)	N978S	probably damaging	Het
Cit	A	T	5: 116,117,894 (GRCm39)	Q1268L	probably damaging	Het
Csf2rb	C	T	15: 78,224,781 (GRCm39)	R180W	probably damaging	Het
Dnah17	T	C	11: 117,918,293 (GRCm39)	I4079V	probably damaging	Het
Dnah7a	A	G	1: 53,659,929 (GRCm39)	V693A	probably benign	Het
Dnah8	T	A	17: 30,931,269 (GRCm39)	V1428E	probably benign	Het
Dnhd1	C	A	7: 105,362,647 (GRCm39)	Q3777K	probably benign	Het
Dock9	A	G	14: 121,815,582 (GRCm39)	Y1666H	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Eftud2	A	G	11: 102,758,670 (GRCm39)		probably null	Het
Erich4	T	C	7: 25,315,292 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,250,259 (GRCm39)	D99V	possibly damaging	Het
Fat1	T	C	8: 45,404,851 (GRCm39)	V534A	possibly damaging	Het
Fgf21	G	C	7: 45,263,456 (GRCm39)	S207R	probably damaging	Het
Fras1	C	T	5: 96,792,969 (GRCm39)	P967S	probably damaging	Het
H2-T23	T	C	17: 36,343,230 (GRCm39)	D49G	probably damaging	Het
Hmcn2	A	G	2: 31,279,455 (GRCm39)	N1819S	probably null	Het
Hoxc12	A	G	15: 102,846,881 (GRCm39)	I258V	probably damaging	Het
Ighv1-22	T	A	12: 114,709,928 (GRCm39)	T106S	probably damaging	Het
Inpp5j	T	C	11: 3,452,270 (GRCm39)	T327A	probably damaging	Het
Iqgap3	G	T	3: 88,025,067 (GRCm39)	M689I	possibly damaging	Het
Itga7	G	A	10: 128,780,380 (GRCm39)	G559S	possibly damaging	Het
Kcnq1	G	T	7: 142,979,749 (GRCm39)	V632L	probably benign	Het
Lsamp	T	C	16: 41,954,792 (GRCm39)	V230A	probably damaging	Het
Mfn2	A	T	4: 147,970,785 (GRCm39)	S305T	probably benign	Het
Myom3	A	G	4: 135,516,883 (GRCm39)	T818A	probably benign	Het
Nacc2	G	A	2: 25,980,365 (GRCm39)	R24C	probably damaging	Het
Ntrk3	A	C	7: 77,897,048 (GRCm39)	I663R	probably damaging	Het
Nyap1	A	G	5: 137,734,376 (GRCm39)	V219A	probably damaging	Het
Obox3	A	T	7: 15,360,173 (GRCm39)	N165K	probably damaging	Het
Or13a1	T	A	6: 116,470,765 (GRCm39)	L65*	probably null	Het
Or13j1	A	T	4: 43,706,518 (GRCm39)	F17I	probably damaging	Het
Or2y12	A	G	11: 49,426,242 (GRCm39)	T77A	possibly damaging	Het
Or52e2	C	A	7: 102,804,593 (GRCm39)	M120I	probably damaging	Het
Or55b4	G	A	7: 102,134,192 (GRCm39)	T45I	probably benign	Het
Pask	A	T	1: 93,262,350 (GRCm39)	L170H	probably damaging	Het
Piezo2	A	T	18: 63,163,480 (GRCm39)	I2146N	possibly damaging	Het
Pitpnm2	A	T	5: 124,274,449 (GRCm39)	M220K	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Pla2g3	C	T	11: 3,440,827 (GRCm39)	T264M	probably benign	Het
Plcb1	A	T	2: 135,104,165 (GRCm39)	Y278F	probably benign	Het
Prkdc	T	C	16: 15,533,899 (GRCm39)	L1579P	probably damaging	Het
Rad51ap2	T	A	12: 11,507,516 (GRCm39)	N479K	probably benign	Het
Rasgrf2	T	C	13: 92,044,155 (GRCm39)	H966R	probably damaging	Het
Rbm27	A	G	18: 42,471,509 (GRCm39)	D996G	probably damaging	Het
Rif1	A	C	2: 52,010,321 (GRCm39)	K2337T	probably damaging	Het
Rpl13a	G	T	7: 44,775,385 (GRCm39)	N442K	probably benign	Het
Serpini2	T	A	3: 75,153,820 (GRCm39)	T380S	possibly damaging	Het
Setbp1	A	T	18: 78,901,214 (GRCm39)	W818R	probably damaging	Het
Siae	T	A	9: 37,542,869 (GRCm39)	C185S	probably benign	Het
Slc15a2	A	G	16: 36,572,659 (GRCm39)	V674A	probably damaging	Het
Slc40a1	A	T	1: 45,950,516 (GRCm39)	M312K	possibly damaging	Het
Slc46a3	A	G	5: 147,823,566 (GRCm39)	L92S	probably damaging	Het
Son	T	C	16: 91,452,587 (GRCm39)	S445P	probably damaging	Het
Syne2	T	C	12: 76,090,484 (GRCm39)	F351L	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tmem248	T	A	5: 130,269,238 (GRCm39)	L277H	probably damaging	Het
Unc13c	T	A	9: 73,838,757 (GRCm39)	H698L	probably benign	Het
Ushbp1	A	G	8: 71,847,799 (GRCm39)	V24A	possibly damaging	Het
Usp24	G	T	4: 106,256,309 (GRCm39)		probably null	Het
Vmn2r50	T	G	7: 9,786,970 (GRCm39)	I46L	probably benign	Het
Zfp106	T	C	2: 120,365,208 (GRCm39)	T423A	probably benign	Het
Zfp663	T	A	2: 165,195,113 (GRCm39)	T369S	probably benign	Het
Zmynd11	T	C	13: 9,740,953 (GRCm39)	T382A	probably damaging	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
R2849:Agpat2	UTSW	2	26,487,251 (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'- CCTGGTCTTGTCTCTTGGGAAATAG -3'
(R):5'- CAGGATTCTGTGTGCCCAAG -3'

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

Posted On

2017-04-24