Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00479:Gpat2'

13511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpat2

Ensembl Gene

ENSMUSG00000046338

Gene Name

glycerol-3-phosphate acyltransferase 2, mitochondrial

Synonyms

A530057A03Rik, Gpat2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00479

Quality Score

Status

Chromosome

Chromosomal Location

127267119-127278012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127276381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 637 (E637G)

Ref Sequence

ENSEMBL: ENSMUSP00000049619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028848] [ENSMUST00000062211]

AlphaFold

Q14DK4

Predicted Effect

probably benign
Transcript: ENSMUST00000028848

SMART Domains

Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371

Domain	Start	End	E-Value	Type
low complexity region	47	53	N/A	INTRINSIC
Pfam:FAA_hydrolase	107	313	3.1e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000062211
AA Change: E637G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: E637G

Domain	Start	End	E-Value	Type
PlsC	199	333	1.45e-11	SMART
Blast:PlsC	347	387	7e-13	BLAST
low complexity region	431	468	N/A	INTRINSIC
low complexity region	515	528	N/A	INTRINSIC
low complexity region	593	613	N/A	INTRINSIC
low complexity region	664	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146757

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	C	4: 156,255,029 (GRCm39)		probably benign	Het
Antkmt	A	G	17: 26,010,418 (GRCm39)	Y104H	probably damaging	Het
Arid4a	A	G	12: 71,119,367 (GRCm39)	K651E	probably damaging	Het
Atpaf2	A	T	11: 60,300,410 (GRCm39)		probably null	Het
Cd177	G	T	7: 24,457,440 (GRCm39)	S200R	probably benign	Het
Cd209g	A	T	8: 4,185,622 (GRCm39)	T19S	probably benign	Het
Cxcr4	A	G	1: 128,516,792 (GRCm39)	W290R	probably damaging	Het
D930020B18Rik	T	C	10: 121,521,489 (GRCm39)	L491P	probably damaging	Het
Dnah7a	T	C	1: 53,458,843 (GRCm39)	D3765G	probably damaging	Het
Dpy19l4	T	G	4: 11,290,411 (GRCm39)	M327L	probably benign	Het
Eya3	G	A	4: 132,431,709 (GRCm39)	G314D	probably damaging	Het
Fmo1	G	A	1: 162,657,632 (GRCm39)	T503I	probably benign	Het
Galnt3	A	G	2: 65,925,628 (GRCm39)	S370P	probably damaging	Het
Gm5431	A	T	11: 48,786,241 (GRCm39)	S45T	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Gpr84	T	C	15: 103,217,834 (GRCm39)	Y81C	probably damaging	Het
Hnmt	A	T	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Homer1	G	T	13: 93,483,156 (GRCm39)	R81L	probably damaging	Het
Hspa4	A	T	11: 53,171,544 (GRCm39)		probably null	Het
Marchf6	A	G	15: 31,475,909 (GRCm39)	I649T	probably benign	Het
Mcm8	A	G	2: 132,659,094 (GRCm39)	N26S	probably benign	Het
Mgat5	T	C	1: 127,315,204 (GRCm39)	L310P	probably damaging	Het
Pah	T	C	10: 87,414,755 (GRCm39)	L369P	probably benign	Het
Parp4	A	C	14: 56,853,917 (GRCm39)	K844N	possibly damaging	Het
Tlr5	A	G	1: 182,801,394 (GRCm39)	T233A	probably benign	Het
Tsnaxip1	A	G	8: 106,568,055 (GRCm39)	T274A	probably benign	Het
Wdr48	A	G	9: 119,734,456 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Gpat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Gpat2	APN	2	127,274,316 (GRCm39)	missense	probably benign	0.01
IGL01393:Gpat2	APN	2	127,274,571 (GRCm39)	missense	probably damaging	1.00
IGL01759:Gpat2	APN	2	127,272,816 (GRCm39)	missense	possibly damaging	0.94
IGL01764:Gpat2	APN	2	127,269,456 (GRCm39)	missense	probably benign	0.18
IGL02631:Gpat2	APN	2	127,276,152 (GRCm39)	splice site	probably benign
IGL02657:Gpat2	APN	2	127,269,251 (GRCm39)	missense	probably benign	0.04
IGL02813:Gpat2	APN	2	127,276,375 (GRCm39)	missense	possibly damaging	0.90
IGL02873:Gpat2	APN	2	127,273,675 (GRCm39)	missense	probably benign	0.00
IGL02993:Gpat2	APN	2	127,269,486 (GRCm39)	missense	probably damaging	1.00
Hygroscopic	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
PIT4494001:Gpat2	UTSW	2	127,275,800 (GRCm39)	missense	probably benign	0.00
R0078:Gpat2	UTSW	2	127,270,169 (GRCm39)	missense	probably damaging	1.00
R0230:Gpat2	UTSW	2	127,277,765 (GRCm39)	missense	possibly damaging	0.95
R1619:Gpat2	UTSW	2	127,270,637 (GRCm39)	missense	probably benign	0.00
R1851:Gpat2	UTSW	2	127,276,739 (GRCm39)	missense	possibly damaging	0.77
R1939:Gpat2	UTSW	2	127,277,879 (GRCm39)	makesense	probably null
R2143:Gpat2	UTSW	2	127,275,682 (GRCm39)	missense	probably damaging	1.00
R2165:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R2518:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3410:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3411:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3898:Gpat2	UTSW	2	127,277,018 (GRCm39)	missense	probably damaging	1.00
R4080:Gpat2	UTSW	2	127,275,542 (GRCm39)	missense	probably damaging	0.99
R4725:Gpat2	UTSW	2	127,273,902 (GRCm39)	missense	possibly damaging	0.83
R4841:Gpat2	UTSW	2	127,275,887 (GRCm39)	missense	probably benign	0.10
R5354:Gpat2	UTSW	2	127,270,643 (GRCm39)	missense	probably damaging	1.00
R5941:Gpat2	UTSW	2	127,270,195 (GRCm39)	missense	possibly damaging	0.53
R6362:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6374:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6375:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6377:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6380:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6381:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6382:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6383:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6384:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6393:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6565:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6594:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6595:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6649:Gpat2	UTSW	2	127,274,355 (GRCm39)	missense	possibly damaging	0.81
R6665:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6666:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6667:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6668:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6669:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R7031:Gpat2	UTSW	2	127,277,395 (GRCm39)	missense	probably damaging	0.99
R7096:Gpat2	UTSW	2	127,270,209 (GRCm39)	missense	probably benign	0.02
R7307:Gpat2	UTSW	2	127,276,810 (GRCm39)	missense	probably damaging	1.00
R7313:Gpat2	UTSW	2	127,270,215 (GRCm39)	missense	probably damaging	0.99
R7365:Gpat2	UTSW	2	127,268,901 (GRCm39)	splice site	probably null
R8111:Gpat2	UTSW	2	127,275,777 (GRCm39)	missense	probably damaging	1.00
R8113:Gpat2	UTSW	2	127,273,267 (GRCm39)	missense	possibly damaging	0.52
R8729:Gpat2	UTSW	2	127,275,739 (GRCm39)	missense	probably damaging	0.99
R9010:Gpat2	UTSW	2	127,277,146 (GRCm39)	missense	probably benign	0.28
R9146:Gpat2	UTSW	2	127,273,206 (GRCm39)	missense	possibly damaging	0.58
Z1176:Gpat2	UTSW	2	127,275,728 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpat2	UTSW	2	127,272,802 (GRCm39)	missense	probably benign

Posted On

2012-12-06