Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01746:Plcl2'

153029

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?

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

Stock #

IGL01746

Quality Score

Status

Chromosome

Chromosomal Location

50816431-50995512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50914724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 578 (S578T)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

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

AlphaFold

Q8K394

Predicted Effect

probably benign
Transcript: ENSMUST00000043938
AA Change: S578T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: S578T

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,982,276 (GRCm39)	M1187V	possibly damaging	Het
Ctsm	T	C	13: 61,687,630 (GRCm39)	E76G	probably benign	Het
Ctsm	T	C	13: 61,686,717 (GRCm39)		probably benign	Het
Egfl8	T	C	17: 34,833,890 (GRCm39)	T63A	probably damaging	Het
Fat4	T	A	3: 39,045,880 (GRCm39)	C3966*	probably null	Het
Fsd2	T	C	7: 81,202,755 (GRCm39)	T275A	probably benign	Het
Fyb2	A	T	4: 104,802,404 (GRCm39)	H102L	probably benign	Het
Galnt9	T	C	5: 110,736,188 (GRCm39)	I168T	probably damaging	Het
Hc	A	G	2: 34,947,338 (GRCm39)	Y59H	probably damaging	Het
Khnyn	T	C	14: 56,124,439 (GRCm39)	V231A	probably benign	Het
Larp4b	T	A	13: 9,208,160 (GRCm39)	V378E	probably damaging	Het
Lbx1	A	T	19: 45,222,214 (GRCm39)	S270T	possibly damaging	Het
Mcm6	G	A	1: 128,281,261 (GRCm39)	R101*	probably null	Het
Mcph1	T	C	8: 18,721,143 (GRCm39)	L657P	probably damaging	Het
Ndst2	G	T	14: 20,779,482 (GRCm39)	P253T	probably benign	Het
Nek4	G	A	14: 30,699,541 (GRCm39)		probably null	Het
Nsd1	T	A	13: 55,424,328 (GRCm39)		probably null	Het
Oc90	A	G	15: 65,761,250 (GRCm39)		probably benign	Het
Ranbp3l	T	A	15: 9,063,167 (GRCm39)	C325*	probably null	Het
Rps19bp1	T	C	15: 80,145,198 (GRCm39)	Y140C	probably damaging	Het
Sec62	T	A	3: 30,868,395 (GRCm39)	I208K	probably benign	Het
Slc25a48	T	A	13: 56,618,166 (GRCm39)	F268I	probably damaging	Het
Slc35e3	T	C	10: 117,580,807 (GRCm39)	T166A	possibly damaging	Het
Tmem253	G	A	14: 52,254,614 (GRCm39)	W23*	probably null	Het
Tmem97	T	C	11: 78,433,586 (GRCm39)	Y103C	probably damaging	Het
Traf6	A	G	2: 101,527,237 (GRCm39)	E329G	possibly damaging	Het
Ttll12	A	G	15: 83,462,877 (GRCm39)	F530L	probably damaging	Het
Ugt3a1	C	T	15: 9,361,754 (GRCm39)	P177S	probably damaging	Het
Veph1	T	C	3: 66,065,508 (GRCm39)	T520A	probably benign	Het
Vmn2r98	T	A	17: 19,286,713 (GRCm39)	Y404N	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
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

2014-02-04