Mutagenetix > Incidental Mutation

Incidental Mutation 'R3083:Plcl2'

264082

Institutional Source

Beutler Lab

Gene Symbol

Plcl2

Ensembl Gene

ENSMUSG00000038910

Gene Name

phospholipase C-like 2

Synonyms

Plce2, PRIP-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R3083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50816431-50995512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50994772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1080 (N1080K)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

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

AlphaFold

Q8K394

Predicted Effect

probably benign
Transcript: ENSMUST00000043938
AA Change: N1080K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: N1080K

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,859,576 (GRCm39)	V341A	possibly damaging	Het
Armc2	T	C	10: 41,842,726 (GRCm39)	D359G	probably damaging	Het
Cdh6	T	C	15: 13,044,838 (GRCm39)	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,813,363 (GRCm39)	N1441D	probably benign	Het
Fbln1	T	G	15: 85,149,454 (GRCm39)	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm15446	A	G	5: 110,091,158 (GRCm39)	N470S	possibly damaging	Het
Grin3a	G	A	4: 49,665,243 (GRCm39)	R1131W	probably benign	Het
H2bc27	A	G	11: 58,839,802 (GRCm39)	K13E	probably benign	Het
Incenp	T	A	19: 9,861,143 (GRCm39)	M480L	unknown	Het
Lrp1b	A	T	2: 40,490,336 (GRCm39)	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,511,337 (GRCm39)	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,129,588 (GRCm39)	F885S	probably benign	Het
Or12d2	T	C	17: 37,625,086 (GRCm39)	N63S	probably damaging	Het
Or4c122	A	C	2: 89,079,345 (GRCm39)	V231G	probably damaging	Het
Or8b52	A	G	9: 38,576,912 (GRCm39)	V76A	probably damaging	Het
Rab3gap2	T	A	1: 184,936,466 (GRCm39)	S10T	probably benign	Het
Rtca	G	A	3: 116,301,674 (GRCm39)		probably benign	Het
Scn1a	A	G	2: 66,129,981 (GRCm39)	F1278S	probably damaging	Het
Slitrk3	T	C	3: 72,955,928 (GRCm39)	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567 (GRCm39)	D251G	probably damaging	Het
Ssh3	C	T	19: 4,312,587 (GRCm39)	R586H	probably benign	Het
Tomm40l	A	T	1: 171,048,780 (GRCm39)	L78H	probably damaging	Het
Vmn2r4	A	G	3: 64,296,788 (GRCm39)	S666P	probably 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
R2247:Plcl2	UTSW	17	50,913,873 (GRCm39)	missense	probably damaging	0.96
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'- AAATCGACCTCCTCGGATGTG -3'
(R):5'- CTCATCCTGATCAGTGAGCC -3'

Sequencing Primer
(F):5'- ACCTCCTCGGATGTGGTAAC -3'
(R):5'- ATCCTGATCAGTGAGCCAGTGC -3'

Posted On

2015-02-05