Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01393:Gpat2'

79301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpat2

Ensembl Gene

ENSMUSG00000046338

Gene Name

glycerol-3-phosphate acyltransferase 2, mitochondrial

Synonyms

Gpat2, A530057A03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

127425199-127436092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127432651 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 386 (E386G)

Ref Sequence

ENSEMBL: ENSMUSP00000049619 (fasta)

Gene Model

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

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: E386G

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

SMART Domains

Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: E386G

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: ENSMUST00000146757

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 36,096,422	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,626,614	Q60K	unknown	Het
Alpk2	A	G	18: 65,307,708	S205P	possibly damaging	Het
Ang4	T	A	14: 51,764,213	I93L	probably benign	Het
Arpin	A	G	7: 79,931,840	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,933,047	C263*	probably null	Het
C530008M17Rik	T	C	5: 76,858,971	S1060P	unknown	Het
Cd209f	T	C	8: 4,103,154	N260S	probably damaging	Het
Cdh20	A	G	1: 104,934,244	R50G	probably benign	Het
Csmd3	C	T	15: 48,457,599	V272I	possibly damaging	Het
Dst	A	T	1: 34,167,625	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,807,271	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,577,360		probably benign	Het
Fat2	T	C	11: 55,269,309	D3326G	probably benign	Het
Filip1l	A	G	16: 57,572,223	N820S	probably damaging	Het
Gm26566	G	A	4: 88,722,344		probably benign	Het
Gm4792	A	G	10: 94,298,442	L22P	unknown	Het
Grm3	T	C	5: 9,589,856	D63G	probably benign	Het
Hdc	A	G	2: 126,594,661	V430A	probably benign	Het
Hnf4a	T	C	2: 163,551,572		probably benign	Het
Il2ra	A	G	2: 11,683,054	D215G	probably damaging	Het
Kctd3	T	C	1: 189,000,290	I74V	probably benign	Het
Kctd5	A	T	17: 24,059,318		probably null	Het
Lrsam1	A	T	2: 32,955,173		probably benign	Het
Mblac1	A	G	5: 138,194,774	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,960,708		probably benign	Het
Mpp3	A	T	11: 102,025,478	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,448,006	A53S	possibly damaging	Het
Nbea	C	A	3: 56,005,308	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,404,174	K22R	probably null	Het
Olfr1298	A	G	2: 111,645,256	V247A	probably damaging	Het
Olfr350	G	A	2: 36,850,541	R165Q	probably benign	Het
Olfr700	C	T	7: 106,806,435	G9E	probably benign	Het
Pard6b	T	A	2: 168,087,378	S35T	probably benign	Het
Peli1	T	C	11: 21,147,400	V215A	probably benign	Het
Pkp4	A	T	2: 59,347,925	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,631	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,694,544	S483P	probably benign	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,967,517	V210A	probably benign	Het
Rev1	A	G	1: 38,092,063	V168A	probably damaging	Het
Sez6l	G	T	5: 112,438,395		probably benign	Het
Spag17	A	G	3: 100,027,610	T711A	possibly damaging	Het
Spice1	A	G	16: 44,366,630	I163M	probably benign	Het
Tex13c1	C	T	X: 43,591,356	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,784,638	S806R	probably benign	Het
Tnc	A	G	4: 64,014,054		probably benign	Het
Tpbg	T	A	9: 85,844,092	V38E	unknown	Het
Unc13c	T	A	9: 73,540,270	I1883F	probably benign	Het
Vmn2r61	A	C	7: 42,266,834	Q290H	probably benign	Het
Vps39	A	G	2: 120,350,238		probably benign	Het
Zfp369	T	C	13: 65,294,474	V294A	possibly damaging	Het
Zfp821	T	A	8: 109,709,478		probably benign	Het
Zfp941	C	T	7: 140,811,928	G506E	probably damaging	Het

Other mutations in Gpat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Gpat2	APN	2	127432396	missense	probably benign	0.01
IGL00479:Gpat2	APN	2	127434461	missense	probably damaging	0.99
IGL01759:Gpat2	APN	2	127430896	missense	possibly damaging	0.94
IGL01764:Gpat2	APN	2	127427536	missense	probably benign	0.18
IGL02631:Gpat2	APN	2	127434232	splice site	probably benign
IGL02657:Gpat2	APN	2	127427331	missense	probably benign	0.04
IGL02813:Gpat2	APN	2	127434455	missense	possibly damaging	0.90
IGL02873:Gpat2	APN	2	127431755	missense	probably benign	0.00
IGL02993:Gpat2	APN	2	127427566	missense	probably damaging	1.00
R6669_gpat2_048	UTSW	2	127431918	missense	possibly damaging	0.90
PIT4494001:Gpat2	UTSW	2	127433880	missense	probably benign	0.00
R0078:Gpat2	UTSW	2	127428249	missense	probably damaging	1.00
R0230:Gpat2	UTSW	2	127435845	missense	possibly damaging	0.95
R1619:Gpat2	UTSW	2	127428717	missense	probably benign	0.00
R1851:Gpat2	UTSW	2	127434819	missense	possibly damaging	0.77
R1939:Gpat2	UTSW	2	127435959	makesense	probably null
R2143:Gpat2	UTSW	2	127433762	missense	probably damaging	1.00
R2165:Gpat2	UTSW	2	127428291	missense	probably damaging	0.97
R2518:Gpat2	UTSW	2	127428291	missense	probably damaging	0.97
R3410:Gpat2	UTSW	2	127428291	missense	probably damaging	0.97
R3411:Gpat2	UTSW	2	127428291	missense	probably damaging	0.97
R3898:Gpat2	UTSW	2	127435098	missense	probably damaging	1.00
R4080:Gpat2	UTSW	2	127433622	missense	probably damaging	0.99
R4725:Gpat2	UTSW	2	127431982	missense	possibly damaging	0.83
R4841:Gpat2	UTSW	2	127433967	missense	probably benign	0.10
R5354:Gpat2	UTSW	2	127428723	missense	probably damaging	1.00
R5941:Gpat2	UTSW	2	127428275	missense	possibly damaging	0.53
R6362:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6374:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6375:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6377:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6380:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6381:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6382:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6383:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6384:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6393:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6565:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6594:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6595:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6649:Gpat2	UTSW	2	127432435	missense	possibly damaging	0.81
R6665:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6666:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6667:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6668:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R6669:Gpat2	UTSW	2	127431918	missense	possibly damaging	0.90
R7031:Gpat2	UTSW	2	127435475	missense	probably damaging	0.99
R7096:Gpat2	UTSW	2	127428289	missense	probably benign	0.02
R7307:Gpat2	UTSW	2	127434890	missense	probably damaging	1.00
R7313:Gpat2	UTSW	2	127428295	missense	probably damaging	0.99
R7365:Gpat2	UTSW	2	127426981	splice site	probably null
R8111:Gpat2	UTSW	2	127433857	missense	probably damaging	1.00
R8113:Gpat2	UTSW	2	127431347	missense	possibly damaging	0.52
Z1176:Gpat2	UTSW	2	127430882	missense	probably benign
Z1176:Gpat2	UTSW	2	127433808	missense	probably damaging	1.00

Posted On

2013-11-05