Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Lpcat2b'

503092

Institutional Source

Beutler Lab

Gene Symbol

Lpcat2b

Ensembl Gene

ENSMUSG00000033794

Gene Name

lysophosphatidylcholine acyltransferase 2B

Synonyms

4921521K07Rik, Aytl1b

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107579415-107582905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107581171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 167 (R167G)

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

probably benign
Transcript: ENSMUST00000166599
AA Change: R167G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
AA Change: R167G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,407,887 (GRCm39)	D206V	possibly damaging	Het
Ank2	T	A	3: 126,797,655 (GRCm39)	D685V	probably damaging	Het
Baz2b	A	G	2: 59,809,019 (GRCm39)	S77P	probably benign	Het
Ccdc194	T	C	8: 71,978,109 (GRCm39)	N83D	probably benign	Het
Ceacam5	A	T	7: 17,448,810 (GRCm39)	T59S	probably benign	Het
Cemip2	G	A	19: 21,822,186 (GRCm39)	G1194S	probably benign	Het
Ces1e	A	C	8: 93,944,163 (GRCm39)	F218L	probably damaging	Het
Cilk1	T	C	9: 78,071,921 (GRCm39)	V531A	probably benign	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,201,774 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eftud2	A	T	11: 102,730,883 (GRCm39)	V843E	probably damaging	Het
Fuca2	G	T	10: 13,381,783 (GRCm39)	W232L	probably damaging	Het
Gdf7	T	C	12: 8,348,832 (GRCm39)	D155G	unknown	Het
Ggcx	G	T	6: 72,407,122 (GRCm39)	V753F	possibly damaging	Het
Ghrhr	A	T	6: 55,356,173 (GRCm39)	T89S	probably benign	Het
Gpr151	T	C	18: 42,711,619 (GRCm39)	K353R	probably benign	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,696,962 (GRCm39)	I403T	probably benign	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Insc	A	T	7: 114,390,401 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,707 (GRCm39)	G53D	probably damaging	Het
Ksr1	G	A	11: 78,911,267 (GRCm39)	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,535,317 (GRCm39)	R27H	probably damaging	Het
Man1a	C	T	10: 53,890,552 (GRCm39)	V288I	possibly damaging	Het
Map2	T	G	1: 66,464,637 (GRCm39)	S1676A	probably damaging	Het
Mbl1	G	T	14: 40,875,572 (GRCm39)	V9F	unknown	Het
Mrgprb8	T	A	7: 48,039,051 (GRCm39)	C241S	probably benign	Het
Mrpl2	T	C	17: 46,960,012 (GRCm39)	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,335,685 (GRCm39)	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,350,454 (GRCm39)	H464R	probably damaging	Het
Mug2	T	A	6: 122,024,398 (GRCm39)	M490K	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Notch1	A	G	2: 26,359,911 (GRCm39)	V1268A	probably damaging	Het
Or6b2b	A	T	1: 92,419,264 (GRCm39)	I71N	possibly damaging	Het
Or8b12c	C	A	9: 37,716,177 (GRCm39)		probably null	Het
Pgm1	A	T	4: 99,836,151 (GRCm39)	I412F	probably damaging	Het
Plaur	A	T	7: 24,164,628 (GRCm39)	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,756,644 (GRCm39)	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prph	A	G	15: 98,954,713 (GRCm39)	T35A	probably benign	Het
Prrc2c	C	T	1: 162,510,085 (GRCm39)	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,721,908 (GRCm39)	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,470 (GRCm39)	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686 (GRCm39)	I192L	probably benign	Het
Slc39a10	T	C	1: 46,874,993 (GRCm39)	D103G	probably damaging	Het
Smndc1	G	A	19: 53,372,063 (GRCm39)	T117M	probably benign	Het
Tesk2	A	G	4: 116,649,367 (GRCm39)	D159G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r108	A	T	17: 20,682,644 (GRCm39)	N853K	probably benign	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	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
R0967:Lpcat2b	UTSW	5	107,582,084 (GRCm39)	missense	possibly damaging	0.66
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
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'- AGTCGGCCCTGGTATTCTTG -3'
(R):5'- AAGTCCAGGTCACTGTGTCCAG -3'

Sequencing Primer
(F):5'- CGGCCCTGGTATTCTTGTTTCG -3'
(R):5'- GGCTCCTAGTTTAAAAGTGACG -3'

Posted On

2018-02-27