Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00927:Plcl2'

29274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcl2

Ensembl Gene

ENSMUSG00000038910

Gene Name

phospholipase C-like 2

Synonyms

Plce2, PRIP-2

Accession Numbers

Essential gene?

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

Stock #

IGL00927

Quality Score

Status

Chromosome

Chromosomal Location

50816431-50995512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50913948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 319 (S319L)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

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

AlphaFold

Q8K394

Predicted Effect

probably benign
Transcript: ENSMUST00000043938
AA Change: S319L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: S319L

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,674 (GRCm39)	T92A	probably damaging	Het
Ankhd1	A	G	18: 36,765,125 (GRCm39)	S1007G	probably benign	Het
Cabp4	A	T	19: 4,189,406 (GRCm39)	S50R	possibly damaging	Het
Camp	A	T	9: 109,678,336 (GRCm39)	L56Q	probably damaging	Het
Cblb	A	G	16: 51,986,461 (GRCm39)	N568S	probably benign	Het
Ccr6	C	A	17: 8,474,825 (GRCm39)	T10K	probably benign	Het
Chit1	T	C	1: 134,072,992 (GRCm39)	F106S	probably damaging	Het
Cyb561d1	A	G	3: 108,106,943 (GRCm39)	L34P	probably damaging	Het
Dcun1d1	A	T	3: 35,975,114 (GRCm39)		probably benign	Het
Deup1	A	G	9: 15,521,967 (GRCm39)		probably benign	Het
Erich1	A	G	8: 14,083,518 (GRCm39)	F184S	probably damaging	Het
Fmnl3	A	G	15: 99,235,509 (GRCm39)		probably null	Het
Grk2	T	C	19: 4,337,982 (GRCm39)	N508S	probably benign	Het
Herc4	A	G	10: 63,109,316 (GRCm39)	I184V	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ift56	T	C	6: 38,359,155 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,381 (GRCm39)	A61T	possibly damaging	Het
Kmt2d	G	A	15: 98,742,890 (GRCm39)		probably benign	Het
Lrrc7	C	A	3: 157,866,727 (GRCm39)	V1005L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,046 (GRCm39)	M168L	probably benign	Het
Ndc1	C	T	4: 107,241,977 (GRCm39)		probably benign	Het
Nphs1	A	G	7: 30,160,164 (GRCm39)		probably benign	Het
Or52w1	A	T	7: 105,018,454 (GRCm39)	Y298F	probably damaging	Het
Pbld2	T	C	10: 62,907,734 (GRCm39)	V200A	probably benign	Het
Pcdhb21	A	G	18: 37,647,606 (GRCm39)	Y245C	probably damaging	Het
Pcm1	A	G	8: 41,740,918 (GRCm39)	T1055A	probably damaging	Het
Plekha8	C	A	6: 54,606,822 (GRCm39)	Y372*	probably null	Het
Ralb	T	A	1: 119,399,506 (GRCm39)	N184I	probably benign	Het
Robo3	C	T	9: 37,339,050 (GRCm39)		probably null	Het
Slc41a1	T	A	1: 131,766,914 (GRCm39)	L144H	probably damaging	Het
Smg1	C	T	7: 117,739,855 (GRCm39)	G3364D	probably damaging	Het
Spmap2	A	G	10: 79,412,433 (GRCm39)	S329P	probably damaging	Het
Vmn1r123	T	A	7: 20,896,216 (GRCm39)	V36D	possibly damaging	Het
Zbtb7c	T	C	18: 76,278,921 (GRCm39)	S460P	possibly damaging	Het
Zscan30	T	C	18: 24,104,834 (GRCm39)		noncoding transcript	Het

Other mutations in Plcl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17