Mutagenetix > Incidental Mutation

Incidental Mutation 'R0967:Lpcat2b'

83901

Institutional Source

Beutler Lab

Gene Symbol

Lpcat2b

Ensembl Gene

ENSMUSG00000033794

Gene Name

lysophosphatidylcholine acyltransferase 2B

Synonyms

4921521K07Rik, Aytl1b

MMRRC Submission

039096-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107579415-107582905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107582084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 471 (M471K)

Ref Sequence

ENSEMBL: ENSMUSP00000127318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000094541] [ENSMUST00000162298] [ENSMUST00000166599] [ENSMUST00000211896]

AlphaFold

Q9D5U0

Predicted Effect

probably benign
Transcript: ENSMUST00000049146

SMART Domains

Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Hydrolase_4	88	203	2.4e-11	PFAM
Pfam:Abhydrolase_1	92	341	6.6e-27	PFAM
Pfam:Abhydrolase_5	93	335	5.7e-15	PFAM
Pfam:Abhydrolase_6	94	346	2.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094541

SMART Domains

Protein: ENSMUSP00000092119
Gene: ENSMUSG00000111375

Domain	Start	End	E-Value	Type
BTB	58	158	2.15e0	SMART
BTB	205	303	1.55e-21	SMART
Blast:BTB	341	372	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166599
AA Change: M471K

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
AA Change: M471K

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
PlsC	136	247	5.65e-14	SMART
Blast:PlsC	280	322	3e-10	BLAST
EFh	391	419	9.48e-3	SMART
EFh	428	456	6.6e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171723

Predicted Effect

probably benign
Transcript: ENSMUST00000211896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212858

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.1%
20x: 90.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 59,105,812 (GRCm39)	E736*	probably null	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Camk1g	T	C	1: 193,032,604 (GRCm39)	E269G	probably damaging	Het
Ccrl2	G	A	9: 110,884,754 (GRCm39)	T248M	probably benign	Het
Chd9	T	C	8: 91,716,107 (GRCm39)	S421P	probably damaging	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Cplane2	T	C	4: 140,947,162 (GRCm39)	M181T	probably benign	Het
Csmd3	T	C	15: 47,721,227 (GRCm39)	E1468G	probably null	Het
Cyc1	T	C	15: 76,229,848 (GRCm39)		probably benign	Het
Fli1	T	A	9: 32,372,745 (GRCm39)	T98S	probably benign	Het
Gk2	T	C	5: 97,604,155 (GRCm39)	S228G	probably benign	Het
Gse1	T	A	8: 121,297,594 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,798,839 (GRCm39)		probably benign	Het
Hif1a	G	A	12: 73,984,444 (GRCm39)	V300I	possibly damaging	Het
Hsd17b4	C	A	18: 50,316,328 (GRCm39)	H652N	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kif5c	T	A	2: 49,588,128 (GRCm39)		probably benign	Het
Lgr6	T	C	1: 134,921,750 (GRCm39)	Y198C	probably damaging	Het
Med21	A	G	6: 146,551,697 (GRCm39)	E116G	probably benign	Het
Mos	A	G	4: 3,870,932 (GRCm39)	S295P	probably benign	Het
Ms4a15	A	T	19: 10,956,685 (GRCm39)	V209E	probably damaging	Het
Mttp	A	G	3: 137,798,484 (GRCm39)	V804A	probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,594 (GRCm39)	M121T	probably damaging	Het
Or52n4b	T	C	7: 108,143,996 (GRCm39)	I86T	probably damaging	Het
Or5ac23	T	A	16: 59,149,546 (GRCm39)	T109S	possibly damaging	Het
Plagl1	T	C	10: 13,003,986 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,385,256 (GRCm39)	V797E	probably damaging	Het
Rars2	A	G	4: 34,646,587 (GRCm39)	D284G	probably benign	Het
Rassf8	T	C	6: 145,765,676 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,783,751 (GRCm39)		probably benign	Het
Ripk4	A	T	16: 97,545,372 (GRCm39)	M362K	probably damaging	Het
Rubcn	C	A	16: 32,646,087 (GRCm39)	E815D	probably benign	Het
Scn8a	A	G	15: 100,933,527 (GRCm39)	Y1577C	probably damaging	Het
Sec24b	C	T	3: 129,790,431 (GRCm39)	R698Q	probably damaging	Het
Ssc5d	T	A	7: 4,947,342 (GRCm39)	L1232*	probably null	Het
Usp7	A	T	16: 8,514,518 (GRCm39)		probably benign	Het
Vmn2r51	T	G	7: 9,834,012 (GRCm39)	H342P	probably damaging	Het
Vmn2r70	A	G	7: 85,208,827 (GRCm39)	M550T	probably damaging	Het
Vmn2r81	T	C	10: 79,083,857 (GRCm39)		probably benign	Het
Zc3h13	T	C	14: 75,581,179 (GRCm39)	I1722T	possibly damaging	Het

Other mutations in Lpcat2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Lpcat2b	APN	5	107,581,670 (GRCm39)	missense	probably damaging	1.00
IGL01620:Lpcat2b	APN	5	107,581,759 (GRCm39)	missense	probably damaging	1.00
IGL02268:Lpcat2b	APN	5	107,581,982 (GRCm39)	missense	probably damaging	1.00
IGL03103:Lpcat2b	APN	5	107,581,414 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Lpcat2b	UTSW	5	107,581,997 (GRCm39)	missense	probably damaging	1.00
R1259:Lpcat2b	UTSW	5	107,581,763 (GRCm39)	missense	probably damaging	1.00
R1508:Lpcat2b	UTSW	5	107,581,330 (GRCm39)	missense	probably damaging	0.99
R1976:Lpcat2b	UTSW	5	107,581,716 (GRCm39)	missense	possibly damaging	0.65
R2352:Lpcat2b	UTSW	5	107,581,307 (GRCm39)	missense	probably damaging	1.00
R4617:Lpcat2b	UTSW	5	107,581,865 (GRCm39)	missense	possibly damaging	0.69
R5187:Lpcat2b	UTSW	5	107,582,001 (GRCm39)	nonsense	probably null
R5696:Lpcat2b	UTSW	5	107,580,773 (GRCm39)	missense	probably damaging	1.00
R6170:Lpcat2b	UTSW	5	107,581,760 (GRCm39)	missense	probably benign	0.10
R6199:Lpcat2b	UTSW	5	107,581,171 (GRCm39)	missense	probably benign	0.03
R7316:Lpcat2b	UTSW	5	107,580,979 (GRCm39)	missense	not run
R8850:Lpcat2b	UTSW	5	107,580,692 (GRCm39)	missense	probably benign
R8928:Lpcat2b	UTSW	5	107,580,913 (GRCm39)	missense	probably benign
R9764:Lpcat2b	UTSW	5	107,581,438 (GRCm39)	missense	possibly damaging	0.83
Z1088:Lpcat2b	UTSW	5	107,581,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGCCTGTAACCGATCAC -3'
(R):5'- TCCTGTTTCCAAGGATGCCTTGAAC -3'

Sequencing Primer
(F):5'- TTTCAGAGCCCTTGAGACAG -3'
(R):5'- TAGGCTGCCTGGAGATCTAT -3'

Posted On

2013-11-08