Mutagenetix > Incidental Mutation

Incidental Mutation 'R0760:Plcl2'

70066

Institutional Source

Beutler Lab

Gene Symbol

Plcl2

Ensembl Gene

ENSMUSG00000038910

Gene Name

phospholipase C-like 2

Synonyms

Plce2, PRIP-2

MMRRC Submission

038940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R0760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50816431-50995512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50915802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 937 (N937S)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043938]

AlphaFold

Q8K394

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043938
AA Change: N937S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: N937S

Domain	Start	End	E-Value	Type
low complexity region	20	49	N/A	INTRINSIC
PH	143	254	2.88e-5	SMART
Pfam:EF-hand_like	344	426	3.7e-29	PFAM
PLCXc	427	571	2.19e-84	SMART
PLCYc	619	735	4.37e-61	SMART
C2	756	862	3.45e-19	SMART

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.8%

Validation Efficiency

95% (39/41)

MGI Phenotype

PHENOTYPE: Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,324,661 (GRCm39)	V120A	possibly damaging	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Alcam	C	T	16: 52,116,035 (GRCm39)	V180M	probably benign	Het
Catip	A	G	1: 74,402,118 (GRCm39)		probably benign	Het
Ccm2l	A	C	2: 152,914,104 (GRCm39)	N298T	probably damaging	Het
Ccni	A	G	5: 93,331,188 (GRCm39)	V261A	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5d1	A	G	11: 69,285,999 (GRCm39)	F41L	probably benign	Het
Fbxw8	A	G	5: 118,203,966 (GRCm39)		probably null	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gpaa1	T	C	15: 76,216,119 (GRCm39)	I33T	probably benign	Het
Grip1	T	A	10: 119,853,983 (GRCm39)	S512T	probably damaging	Het
Gtpbp1	G	A	15: 79,603,356 (GRCm39)	G140E	probably damaging	Het
Hspa4l	T	A	3: 40,739,155 (GRCm39)	L681*	probably null	Het
Hspg2	A	G	4: 137,239,660 (GRCm39)	T456A	probably damaging	Het
Igkv3-1	A	T	6: 70,681,119 (GRCm39)	D106V	probably damaging	Het
Inhbc	C	T	10: 127,193,237 (GRCm39)	G260S	probably damaging	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Kif5c	T	C	2: 49,578,765 (GRCm39)	I131T	probably damaging	Het
Kmt2c	A	G	5: 25,558,315 (GRCm39)	Y1133H	possibly damaging	Het
Lama2	A	G	10: 26,920,429 (GRCm39)		probably null	Het
N4bp1	A	G	8: 87,573,540 (GRCm39)	Y744H	probably damaging	Het
Or14j7	C	T	17: 38,235,005 (GRCm39)	Q183*	probably null	Het
Or1n2	A	G	2: 36,797,233 (GRCm39)	S92G	probably benign	Het
Ovol2	A	G	2: 144,173,679 (GRCm39)		probably null	Het
Pappa2	C	A	1: 158,544,531 (GRCm39)		probably null	Het
Pcdh10	G	A	3: 45,335,005 (GRCm39)	E440K	probably benign	Het
Pcsk4	A	G	10: 80,161,775 (GRCm39)		probably benign	Het
Ppp6r1	A	G	7: 4,642,722 (GRCm39)	F541L	probably benign	Het
Rad54l2	A	G	9: 106,596,805 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,312,613 (GRCm39)	P1111L	possibly damaging	Het
Rasal3	A	G	17: 32,611,146 (GRCm39)	F929S	probably benign	Het
Rnf111	A	G	9: 70,336,960 (GRCm39)	V909A	probably damaging	Het
Rnf168	A	G	16: 32,117,204 (GRCm39)		probably null	Het
Slc2a5	T	C	4: 150,224,124 (GRCm39)	L244P	probably benign	Het
Snta1	T	A	2: 154,222,860 (GRCm39)	I288F	probably damaging	Het
Sv2a	G	A	3: 96,095,498 (GRCm39)	C297Y	probably damaging	Het
Trim44	C	T	2: 102,230,905 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,200,805 (GRCm39)	I1164N	possibly damaging	Het

Other mutations in Plcl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Plcl2	APN	17	50,913,948 (GRCm39)	missense	probably benign	0.01
IGL01746:Plcl2	APN	17	50,914,724 (GRCm39)	missense	probably benign	0.00
IGL02227:Plcl2	APN	17	50,913,425 (GRCm39)	missense	probably damaging	0.97
IGL02232:Plcl2	APN	17	50,913,669 (GRCm39)	missense	possibly damaging	0.66
IGL02878:Plcl2	APN	17	50,914,383 (GRCm39)	missense	probably damaging	1.00
IGL02985:Plcl2	APN	17	50,994,842 (GRCm39)	nonsense	probably null
acerbic	UTSW	17	50,915,141 (GRCm39)	missense	probably damaging	1.00
Balsamic	UTSW	17	50,914,689 (GRCm39)	missense	probably damaging	1.00
Bastante	UTSW	17	50,913,389 (GRCm39)	nonsense	probably null
italietta	UTSW	17	50,915,790 (GRCm39)	missense	probably damaging	1.00
Oxalic	UTSW	17	50,915,127 (GRCm39)	missense	probably damaging	1.00
Parece	UTSW	17	50,914,874 (GRCm39)	missense	probably damaging	0.99
picolinic	UTSW	17	50,975,188 (GRCm39)	splice site	probably null
ranch	UTSW	17	50,816,957 (GRCm39)	missense	probably benign	0.00
verdad	UTSW	17	50,915,109 (GRCm39)	missense	probably damaging	1.00
vinagrette	UTSW	17	50,913,884 (GRCm39)	nonsense	probably null
BB007:Plcl2	UTSW	17	50,913,831 (GRCm39)	missense	probably benign
BB017:Plcl2	UTSW	17	50,913,831 (GRCm39)	missense	probably benign
IGL03014:Plcl2	UTSW	17	50,918,029 (GRCm39)	missense	possibly damaging	0.65
R0110:Plcl2	UTSW	17	50,915,010 (GRCm39)	missense	probably damaging	1.00
R0190:Plcl2	UTSW	17	50,914,671 (GRCm39)	missense	probably benign
R0280:Plcl2	UTSW	17	50,914,062 (GRCm39)	missense	probably damaging	1.00
R0414:Plcl2	UTSW	17	50,914,983 (GRCm39)	missense	possibly damaging	0.90
R0450:Plcl2	UTSW	17	50,915,010 (GRCm39)	missense	probably damaging	1.00
R1134:Plcl2	UTSW	17	50,915,138 (GRCm39)	missense	probably benign
R1168:Plcl2	UTSW	17	50,914,100 (GRCm39)	missense	possibly damaging	0.49
R1381:Plcl2	UTSW	17	50,914,757 (GRCm39)	missense	probably damaging	0.99
R1748:Plcl2	UTSW	17	50,913,826 (GRCm39)	missense	probably benign
R1856:Plcl2	UTSW	17	50,914,878 (GRCm39)	missense	probably benign	0.13
R1958:Plcl2	UTSW	17	50,915,109 (GRCm39)	missense	probably damaging	1.00
R2016:Plcl2	UTSW	17	50,913,722 (GRCm39)	missense	probably damaging	1.00
R2057:Plcl2	UTSW	17	50,975,139 (GRCm39)	splice site	probably null
R2077:Plcl2	UTSW	17	50,913,857 (GRCm39)	missense	probably benign
R2247:Plcl2	UTSW	17	50,913,873 (GRCm39)	missense	probably damaging	0.96
R3083:Plcl2	UTSW	17	50,994,772 (GRCm39)	missense	probably benign	0.06
R4153:Plcl2	UTSW	17	50,913,389 (GRCm39)	nonsense	probably null
R4574:Plcl2	UTSW	17	50,914,874 (GRCm39)	missense	probably damaging	0.99
R4870:Plcl2	UTSW	17	50,914,254 (GRCm39)	missense	possibly damaging	0.46
R5030:Plcl2	UTSW	17	50,914,347 (GRCm39)	missense	possibly damaging	0.92
R5330:Plcl2	UTSW	17	50,816,876 (GRCm39)	missense	probably benign	0.01
R5331:Plcl2	UTSW	17	50,816,876 (GRCm39)	missense	probably benign	0.01
R5503:Plcl2	UTSW	17	50,816,957 (GRCm39)	missense	probably benign	0.00
R5920:Plcl2	UTSW	17	50,915,703 (GRCm39)	missense	probably damaging	0.99
R6238:Plcl2	UTSW	17	50,913,873 (GRCm39)	missense	probably damaging	0.96
R6378:Plcl2	UTSW	17	50,975,188 (GRCm39)	splice site	probably null
R6603:Plcl2	UTSW	17	50,914,145 (GRCm39)	missense	probably benign	0.03
R6633:Plcl2	UTSW	17	50,947,168 (GRCm39)	missense	probably benign	0.00
R7113:Plcl2	UTSW	17	50,913,492 (GRCm39)	missense	probably damaging	1.00
R7466:Plcl2	UTSW	17	50,915,496 (GRCm39)	missense	probably damaging	1.00
R7665:Plcl2	UTSW	17	50,914,185 (GRCm39)	missense	probably benign	0.00
R7930:Plcl2	UTSW	17	50,913,831 (GRCm39)	missense	probably benign
R8114:Plcl2	UTSW	17	50,994,815 (GRCm39)	missense	probably damaging	0.97
R8152:Plcl2	UTSW	17	50,914,689 (GRCm39)	missense	probably damaging	1.00
R8208:Plcl2	UTSW	17	50,915,343 (GRCm39)	missense	probably damaging	1.00
R8853:Plcl2	UTSW	17	50,913,884 (GRCm39)	nonsense	probably null
R8911:Plcl2	UTSW	17	50,915,141 (GRCm39)	missense	probably damaging	1.00
R8940:Plcl2	UTSW	17	50,915,790 (GRCm39)	missense	probably damaging	1.00
R8979:Plcl2	UTSW	17	50,947,145 (GRCm39)	missense	possibly damaging	0.64
R9127:Plcl2	UTSW	17	50,918,032 (GRCm39)	missense	probably benign	0.05
R9253:Plcl2	UTSW	17	50,915,127 (GRCm39)	missense	probably damaging	1.00
R9453:Plcl2	UTSW	17	50,915,391 (GRCm39)	missense	probably damaging	1.00
R9469:Plcl2	UTSW	17	50,913,953 (GRCm39)	missense	probably benign	0.05
R9630:Plcl2	UTSW	17	50,947,147 (GRCm39)	missense	probably benign
X0026:Plcl2	UTSW	17	50,914,588 (GRCm39)	missense	probably benign	0.03
Z1088:Plcl2	UTSW	17	50,914,020 (GRCm39)	missense	probably damaging	1.00
Z1176:Plcl2	UTSW	17	50,915,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGAGTGTTTACAGACGGGCTACC -3'
(R):5'- GCTTACGAGTCAGCAACAAGACCAG -3'

Sequencing Primer
(F):5'- TGCAGTCCCTGACTGGAGAG -3'
(R):5'- CAAGACCAGTTTATTCTAGTGCG -3'

Posted On

2013-09-30