Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Agpat2'

734585

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

Accession Numbers

Essential gene?

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

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26483069-26494429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26486395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 134 (Y134H)

Ref Sequence

ENSEMBL: ENSMUSP00000028286 (fasta)

Gene Model

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

AlphaFold

Q8K3K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028286
AA Change: Y134H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922
AA Change: Y134H

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

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

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: 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: 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: 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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGTGTAACCACCCCAAG -3'
(R):5'- CCAAACTGGGCTCTGAAGATCTTC -3'

Sequencing Primer
(F):5'- CAAGAAAGCTGTGCGGCTC -3'
(R):5'- GTGTCTCTCAATCTCCATCTCTGG -3'

Posted On

2022-11-14