Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Lpcat3'

18545

Institutional Source

Beutler Lab

Gene Symbol

Lpcat3

Ensembl Gene

ENSMUSG00000004270

Gene Name

lysophosphatidylcholine acyltransferase 3

Synonyms

Oact5, Mboat5, Grcc3f

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124639887-124681142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124678437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 228 (I228T)

Ref Sequence

ENSEMBL: ENSMUSP00000004381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004379] [ENSMUST00000004381] [ENSMUST00000128721] [ENSMUST00000203238]

AlphaFold

Q91V01

Predicted Effect

probably benign
Transcript: ENSMUST00000004379

SMART Domains

Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268

Domain	Start	End	E-Value	Type
Pfam:EMG1	45	238	2.9e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000004381
AA Change: I228T

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270
AA Change: I228T

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
Pfam:MBOAT	126	437	1.2e-81	PFAM
transmembrane domain	454	473	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125795

Predicted Effect

probably benign
Transcript: ENSMUST00000128721

SMART Domains

Protein: ENSMUSP00000144738
Gene: ENSMUSG00000004270

Domain	Start	End	E-Value	Type
transmembrane domain	41	63	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135516

SMART Domains

Protein: ENSMUSP00000122436
Gene: ENSMUSG00000004270

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142187

Predicted Effect

probably benign
Transcript: ENSMUST00000203238

SMART Domains

Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

Domain	Start	End	E-Value	Type
Pfam:EMG1	55	122	1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141069

Meta Mutation Damage Score

0.1312

Coding Region Coverage

1x: 81.3%
3x: 72.5%
10x: 50.2%
20x: 29.9%

Validation Efficiency

92% (56/61)

MGI Phenotype

PHENOTYPE: Nullizygous mice show low blood glucose levels and postnatal death. Intestine-specific knockouts fail to thrive and show enterocyte lipid accumulation and low plasma triglycerides (TGs). Liver-specific knockouts show low plasma TGs, fatty liver, and secrete VLDL lacking arachidonoyl phospholipids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het

Other mutations in Lpcat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Lpcat3	APN	6	124,676,301 (GRCm39)	missense	possibly damaging	0.78
IGL02279:Lpcat3	APN	6	124,675,072 (GRCm39)	missense	probably damaging	1.00
IGL02869:Lpcat3	APN	6	124,679,970 (GRCm39)	missense	possibly damaging	0.65
R0045:Lpcat3	UTSW	6	124,678,437 (GRCm39)	missense	probably benign	0.12
R2075:Lpcat3	UTSW	6	124,680,066 (GRCm39)	missense	probably damaging	1.00
R3757:Lpcat3	UTSW	6	124,676,955 (GRCm39)	splice site	probably null
R4181:Lpcat3	UTSW	6	124,680,187 (GRCm39)	unclassified	probably benign
R4583:Lpcat3	UTSW	6	124,680,286 (GRCm39)	missense	possibly damaging	0.92
R5134:Lpcat3	UTSW	6	124,679,493 (GRCm39)	missense	probably benign	0.00
R5159:Lpcat3	UTSW	6	124,676,357 (GRCm39)	intron	probably benign
R6703:Lpcat3	UTSW	6	124,640,185 (GRCm39)	missense	probably benign	0.02
R6833:Lpcat3	UTSW	6	124,676,974 (GRCm39)	missense	probably damaging	1.00
R7261:Lpcat3	UTSW	6	124,675,050 (GRCm39)	missense	probably benign	0.02
R7604:Lpcat3	UTSW	6	124,679,493 (GRCm39)	missense	probably benign	0.00
R9399:Lpcat3	UTSW	6	124,640,283 (GRCm39)	missense	probably benign	0.00
R9620:Lpcat3	UTSW	6	124,680,543 (GRCm39)	missense	probably damaging	0.99
R9756:Lpcat3	UTSW	6	124,679,967 (GRCm39)	critical splice acceptor site	probably null
X0017:Lpcat3	UTSW	6	124,675,081 (GRCm39)	missense	possibly damaging	0.49

Posted On

2013-03-25