Mutagenetix > Incidental Mutation

Incidental Mutation 'R9399:Lpcat3'

710994

Institutional Source

Beutler Lab

Gene Symbol

Lpcat3

Ensembl Gene

ENSMUSG00000004270

Gene Name

lysophosphatidylcholine acyltransferase 3

Synonyms

Oact5, Mboat5, Grcc3f

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R9399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124639887-124681142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124640283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 38 (S38P)

Ref Sequence

ENSEMBL: ENSMUSP00000004381 (fasta)

Gene Model

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

AlphaFold

Q91V01

Predicted Effect

probably benign
Transcript: ENSMUST00000004381
AA Change: S38P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270
AA Change: S38P

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

probably damaging
Transcript: ENSMUST00000128721
AA Change: S38P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144738
Gene: ENSMUSG00000004270
AA Change: S38P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,384,615 (GRCm39)	L450R	probably damaging	Het
4933427I04Rik	T	A	4: 123,754,413 (GRCm39)	L109*	probably null	Het
Amotl2	T	C	9: 102,606,531 (GRCm39)	L576P	probably damaging	Het
Ankrd11	T	C	8: 123,618,179 (GRCm39)	N1891S	probably benign	Het
Arap2	T	A	5: 62,763,455 (GRCm39)	H1563L	possibly damaging	Het
Astn2	T	C	4: 65,664,588 (GRCm39)	T732A	possibly damaging	Het
Atp2b2	A	G	6: 113,780,713 (GRCm39)	I312T	probably benign	Het
Bcl9	C	T	3: 97,113,289 (GRCm39)	M1055I	probably benign	Het
Carm1	A	G	9: 21,486,791 (GRCm39)	N180D	possibly damaging	Het
Cd180	A	T	13: 102,842,021 (GRCm39)	T356S	probably benign	Het
Cdh18	A	C	15: 23,173,899 (GRCm39)	T38P	probably damaging	Het
Cdk7	G	T	13: 100,840,988 (GRCm39)	P308Q	probably damaging	Het
Chd5	C	T	4: 152,468,592 (GRCm39)	A1715V	probably benign	Het
Clptm1	A	T	7: 19,367,842 (GRCm39)	V590D	probably damaging	Het
Col18a1	C	T	10: 76,916,584 (GRCm39)	G364R	unknown	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Fgfr4	C	T	13: 55,304,293 (GRCm39)	T111M	probably damaging	Het
Fndc8	A	T	11: 82,788,739 (GRCm39)	T190S	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Glra3	T	A	8: 56,542,079 (GRCm39)	I274N	probably damaging	Het
Gpsm2	G	A	3: 108,590,090 (GRCm39)	R499*	probably null	Het
Gzme	T	A	14: 56,355,796 (GRCm39)	D172V	probably damaging	Het
Ift88	T	A	14: 57,717,385 (GRCm39)	D536E	probably benign	Het
Itih3	T	C	14: 30,643,335 (GRCm39)	T151A	probably benign	Het
Kctd7	T	C	5: 130,177,033 (GRCm39)	Y95H	probably damaging	Het
Lipe	A	T	7: 25,097,227 (GRCm39)	C239S	probably benign	Het
Mical2	C	T	7: 111,946,082 (GRCm39)	R1015C	probably damaging	Het
Midn	C	T	10: 79,992,210 (GRCm39)	R421*	probably null	Het
Mmp17	A	T	5: 129,671,686 (GRCm39)	K79*	probably null	Het
Or8b39	A	G	9: 37,997,020 (GRCm39)	H296R	probably benign	Het
Or8k16	G	C	2: 85,520,395 (GRCm39)	L207F	probably damaging	Het
Pla2r1	A	G	2: 60,282,744 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,755,010 (GRCm39)	V79A	probably damaging	Het
Prkd3	G	T	17: 79,264,719 (GRCm39)	P633H	probably damaging	Het
Prss40	T	A	1: 34,591,794 (GRCm39)	S294C	probably damaging	Het
Raph1	T	A	1: 60,565,154 (GRCm39)	Q111L	probably benign	Het
Rufy3	A	T	5: 88,797,725 (GRCm39)	N634I	possibly damaging	Het
Sel1l3	A	C	5: 53,265,486 (GRCm39)	V1102G	probably benign	Het
Sh2b1	AGCTCAGCC	AGCTCAGCCCCGGGGACCCGCTCAGCC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GG	GGCACCAGCTCAGCCCCGCG	7: 126,066,762 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc25a23	C	A	17: 57,360,930 (GRCm39)	G165C	probably damaging	Het
Spata31e1	T	A	13: 49,940,175 (GRCm39)	T512S	possibly damaging	Het
Sytl2	T	A	7: 90,041,658 (GRCm39)	D585E	probably benign	Het
Ttc14	A	G	3: 33,858,856 (GRCm39)	T372A	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r82	T	A	10: 79,214,768 (GRCm39)	Y250*	probably null	Het
Vmn2r92	T	A	17: 18,389,137 (GRCm39)	S484T	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAATAATCGGGTGGGTCTAGAG -3'
(R):5'- TTCCCTTCGATAGCTGGCTG -3'

Sequencing Primer
(F):5'- TGAAGCCACCGCGTTCTG -3'
(R):5'- CTGGTGTGCTTGATGACCC -3'

Posted On

2022-04-18