Mutagenetix > Incidental Mutation

Incidental Mutation 'R2247:Plcl2'

240919

Institutional Source

Beutler Lab

Gene Symbol

Plcl2

Ensembl Gene

ENSMUSG00000038910

Gene Name

phospholipase C-like 2

Synonyms

Plce2, PRIP-2

MMRRC Submission

040247-MU

Accession Numbers

Essential gene?

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

Stock #

R2247 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50816431-50995512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50913873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 294 (V294A)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

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

AlphaFold

Q8K394

Predicted Effect

probably damaging
Transcript: ENSMUST00000043938
AA Change: V294A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: V294A

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

0.2289

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,435 (GRCm39)	E70G	possibly damaging	Het
Ash1l	C	A	3: 88,914,674 (GRCm39)	P1768Q	possibly damaging	Het
Bicra	C	A	7: 15,723,159 (GRCm39)	E119D	probably benign	Het
Brd2	A	G	17: 34,333,389 (GRCm39)	F421L	probably damaging	Het
Cspp1	A	T	1: 10,136,685 (GRCm39)	Q182L	possibly damaging	Het
Dnah7b	A	G	1: 46,316,223 (GRCm39)	D3112G	probably damaging	Het
Dsc2	T	A	18: 20,168,369 (GRCm39)	I697F	probably damaging	Het
Ephb1	A	T	9: 101,874,010 (GRCm39)	S555T	probably damaging	Het
Fat4	A	T	3: 38,946,198 (GRCm39)	D1697V	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Impg2	A	G	16: 56,088,627 (GRCm39)	K1160R	probably damaging	Het
Jak2	T	C	19: 29,261,036 (GRCm39)	V344A	probably benign	Het
Kcnab3	A	G	11: 69,221,016 (GRCm39)	T168A	probably damaging	Het
Kctd18	A	T	1: 58,006,801 (GRCm39)	H16Q	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh11	A	G	16: 14,095,423 (GRCm39)	L113P	probably damaging	Het
Myh13	A	T	11: 67,225,384 (GRCm39)	I250F	probably damaging	Het
Nin	T	C	12: 70,101,319 (GRCm39)	Y426C	probably damaging	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Or51ab3	T	A	7: 103,201,097 (GRCm39)		probably null	Het
Pbrm1	A	G	14: 30,796,850 (GRCm39)	H897R	probably damaging	Het
Pgap4	T	C	4: 49,586,209 (GRCm39)	S320G	probably benign	Het
Psapl1	A	G	5: 36,362,410 (GRCm39)	E334G	probably benign	Het
Pwwp3a	A	G	10: 80,076,259 (GRCm39)	Y483C	probably damaging	Het
Raly	A	G	2: 154,705,953 (GRCm39)	H277R	possibly damaging	Het
Ranbp9	T	C	13: 43,565,901 (GRCm39)	K462E	probably damaging	Het
Rptn	A	G	3: 93,304,136 (GRCm39)	T490A	probably benign	Het
Rtl1	T	C	12: 109,561,413 (GRCm39)	H142R	possibly damaging	Het
Scart2	G	A	7: 139,829,042 (GRCm39)	G234S	probably null	Het
Shisa3	G	A	5: 67,768,666 (GRCm39)	V189M	probably benign	Het
Slc25a36	A	T	9: 96,982,191 (GRCm39)	L28Q	probably damaging	Het
Slc38a8	A	G	8: 120,212,389 (GRCm39)	M318T	probably benign	Het
Slc4a11	A	T	2: 130,529,721 (GRCm39)	M328K	probably benign	Het
Sp2	A	C	11: 96,852,844 (GRCm39)		probably null	Het
Sult2b1	A	T	7: 45,384,734 (GRCm39)	I114N	probably damaging	Het
Synrg	T	C	11: 83,900,202 (GRCm39)	S803P	probably damaging	Het
Tenm4	T	A	7: 96,555,216 (GRCm39)	D2603E	probably benign	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably null	Het
Zfp189	T	A	4: 49,530,393 (GRCm39)	C499S	possibly damaging	Het
Zfp236	A	G	18: 82,622,423 (GRCm39)	F1621S	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
R0760:Plcl2	UTSW	17	50,915,802 (GRCm39)	missense	possibly damaging	0.82
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
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'- TGTTGCAAACATCTGGGTGAC -3'
(R):5'- TTCTGCCTCAAGAAACATCATAAGG -3'

Sequencing Primer
(F):5'- TGACAGGACTCCGCTACC -3'
(R):5'- CTCAAGAAACATCATAAGGTCCTTGG -3'

Posted On

2014-10-15