Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Plcl2'

285751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcl2

Ensembl Gene

ENSMUSG00000038910

Gene Name

phospholipase C-like 2

Synonyms

PRIP-2, Plce2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

50509547-50688493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50606641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 226 (N226S)

Ref Sequence

ENSEMBL: ENSMUSP00000046584 (fasta)

Gene Model

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

AlphaFold

Q8K394

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043938
AA Change: N226S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: N226S

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,664,525	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996	M210T	probably damaging	Het
Actr10	G	A	12: 70,943,515	E114K	probably benign	Het
Adam6b	T	C	12: 113,491,144	M527T	probably benign	Het
Ahi1	C	T	10: 20,981,375	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,395,646	W424R	probably damaging	Het
Apeh	A	T	9: 108,091,872	S299T	probably benign	Het
Bbs5	A	C	2: 69,655,551	I147L	probably benign	Het
Bmp2k	T	G	5: 97,031,250		probably benign	Het
C2cd6	A	G	1: 59,062,492	F336S	probably damaging	Het
Ccdc129	A	G	6: 55,967,937	T548A	unknown	Het
Cd274	T	A	19: 29,382,538	L248M	probably damaging	Het
Chsy3	T	A	18: 59,409,311	M507K	possibly damaging	Het
Clip2	T	C	5: 134,503,130	N572S	probably damaging	Het
Commd9	A	G	2: 101,900,979	T170A	probably benign	Het
Cpt1c	G	A	7: 44,960,156	S674L	probably damaging	Het
Dhx33	C	A	11: 70,987,204	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,240	E1583K	probably damaging	Het
Eed	G	T	7: 89,972,285	N51K	probably damaging	Het
Efcab14	A	G	4: 115,760,064		probably benign	Het
Ephb2	A	C	4: 136,657,451	M884R	probably damaging	Het
Foxn2	G	T	17: 88,463,051	A109S	probably benign	Het
Fut1	A	T	7: 45,619,447	D220V	probably damaging	Het
Gm6468	C	T	5: 95,281,207		noncoding transcript	Het
Gm7964	A	T	7: 83,756,307		noncoding transcript	Het
Gm9772	C	T	17: 22,007,050		probably benign	Het
Golph3	G	T	15: 12,349,492	M199I	probably benign	Het
Itpr1	A	G	6: 108,417,923	N1666D	probably damaging	Het
Kif12	C	T	4: 63,166,495	E529K	probably benign	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,466,380	N112I	probably damaging	Het
Msi1	T	A	5: 115,441,447		probably null	Het
Nasp	T	G	4: 116,604,800	E170A	probably damaging	Het
Necab2	T	A	8: 119,462,652	V187E	probably damaging	Het
Obscn	T	C	11: 59,038,978	E5790G	probably damaging	Het
Olfr461	A	G	6: 40,544,046	L311P	probably damaging	Het
Olfr872	A	T	9: 20,260,215	D125V	probably damaging	Het
Pard3b	C	T	1: 62,166,382	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,380,942	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,520,549	L690Q	probably damaging	Het
Pemt	T	A	11: 59,976,854	T115S	probably damaging	Het
Ppp6r1	A	G	7: 4,633,342	S750P	probably damaging	Het
Prtg	T	C	9: 72,851,489	V375A	probably damaging	Het
Psd3	A	C	8: 67,904,145	M673R	probably damaging	Het
Ptprt	T	C	2: 161,530,517	I1392V	probably damaging	Het
Rlf	G	A	4: 121,182,614	T200I	probably benign	Het
Robo1	G	A	16: 72,971,984	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,604,351	D87G	possibly damaging	Het
Sema3g	T	C	14: 31,221,224	V148A	probably damaging	Het
Sgms2	G	A	3: 131,323,184	P341S	probably benign	Het
Skint7	A	T	4: 111,982,028	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,436,670	A150V	probably benign	Het
Slc35c2	A	G	2: 165,282,881	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,196,574	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,886,438	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,564	T601I	probably benign	Het
Spink8	A	T	9: 109,820,597	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,175,254	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,353,116	M1K	probably null	Het
Stxbp5l	A	G	16: 37,329,895	L116P	probably damaging	Het
Tlr9	T	C	9: 106,224,937	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,978,753	V108A	probably damaging	Het
Tra2b	A	G	16: 22,249,040		probably benign	Het
Trio	G	T	15: 27,902,561	H271Q	probably benign	Het
Ttn	A	G	2: 76,892,919		probably benign	Het
Usp51	A	T	X: 153,008,673	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,241,811	W355R	probably damaging	Het
Vpreb1	T	C	16: 16,868,739	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zp3r	C	A	1: 130,596,667	C213F	probably damaging	Het

Other mutations in Plcl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Plcl2	APN	17	50606920	missense	probably benign	0.01
IGL01746:Plcl2	APN	17	50607696	missense	probably benign	0.00
IGL02227:Plcl2	APN	17	50606397	missense	probably damaging	0.97
IGL02878:Plcl2	APN	17	50607355	missense	probably damaging	1.00
IGL02985:Plcl2	APN	17	50687814	nonsense	probably null
acerbic	UTSW	17	50608113	missense	probably damaging	1.00
Balsamic	UTSW	17	50607661	missense	probably damaging	1.00
Bastante	UTSW	17	50606361	nonsense	probably null
italietta	UTSW	17	50608762	missense	probably damaging	1.00
Oxalic	UTSW	17	50608099	missense	probably damaging	1.00
Parece	UTSW	17	50607846	missense	probably damaging	0.99
picolinic	UTSW	17	50668160	splice site	probably null
ranch	UTSW	17	50509929	missense	probably benign	0.00
verdad	UTSW	17	50608081	missense	probably damaging	1.00
vinagrette	UTSW	17	50606856	nonsense	probably null
BB007:Plcl2	UTSW	17	50606803	missense	probably benign
BB017:Plcl2	UTSW	17	50606803	missense	probably benign
IGL03014:Plcl2	UTSW	17	50611001	missense	possibly damaging	0.65
R0110:Plcl2	UTSW	17	50607982	missense	probably damaging	1.00
R0190:Plcl2	UTSW	17	50607643	missense	probably benign
R0280:Plcl2	UTSW	17	50607034	missense	probably damaging	1.00
R0414:Plcl2	UTSW	17	50607955	missense	possibly damaging	0.90
R0450:Plcl2	UTSW	17	50607982	missense	probably damaging	1.00
R0760:Plcl2	UTSW	17	50608774	missense	possibly damaging	0.82
R1134:Plcl2	UTSW	17	50608110	missense	probably benign
R1168:Plcl2	UTSW	17	50607072	missense	possibly damaging	0.49
R1381:Plcl2	UTSW	17	50607729	missense	probably damaging	0.99
R1748:Plcl2	UTSW	17	50606798	missense	probably benign
R1856:Plcl2	UTSW	17	50607850	missense	probably benign	0.13
R1958:Plcl2	UTSW	17	50608081	missense	probably damaging	1.00
R2016:Plcl2	UTSW	17	50606694	missense	probably damaging	1.00
R2057:Plcl2	UTSW	17	50668111	splice site	probably null
R2077:Plcl2	UTSW	17	50606829	missense	probably benign
R2247:Plcl2	UTSW	17	50606845	missense	probably damaging	0.96
R3083:Plcl2	UTSW	17	50687744	missense	probably benign	0.06
R4153:Plcl2	UTSW	17	50606361	nonsense	probably null
R4574:Plcl2	UTSW	17	50607846	missense	probably damaging	0.99
R4870:Plcl2	UTSW	17	50607226	missense	possibly damaging	0.46
R5030:Plcl2	UTSW	17	50607319	missense	possibly damaging	0.92
R5330:Plcl2	UTSW	17	50509848	missense	probably benign	0.01
R5331:Plcl2	UTSW	17	50509848	missense	probably benign	0.01
R5503:Plcl2	UTSW	17	50509929	missense	probably benign	0.00
R5920:Plcl2	UTSW	17	50608675	missense	probably damaging	0.99
R6238:Plcl2	UTSW	17	50606845	missense	probably damaging	0.96
R6378:Plcl2	UTSW	17	50668160	splice site	probably null
R6603:Plcl2	UTSW	17	50607117	missense	probably benign	0.03
R6633:Plcl2	UTSW	17	50640140	missense	probably benign	0.00
R7113:Plcl2	UTSW	17	50606464	missense	probably damaging	1.00
R7466:Plcl2	UTSW	17	50608468	missense	probably damaging	1.00
R7665:Plcl2	UTSW	17	50607157	missense	probably benign	0.00
R7930:Plcl2	UTSW	17	50606803	missense	probably benign
R8114:Plcl2	UTSW	17	50687787	missense	probably damaging	0.97
R8152:Plcl2	UTSW	17	50607661	missense	probably damaging	1.00
R8208:Plcl2	UTSW	17	50608315	missense	probably damaging	1.00
R8853:Plcl2	UTSW	17	50606856	nonsense	probably null
R8911:Plcl2	UTSW	17	50608113	missense	probably damaging	1.00
R8940:Plcl2	UTSW	17	50608762	missense	probably damaging	1.00
R8979:Plcl2	UTSW	17	50640117	missense	possibly damaging	0.64
R9127:Plcl2	UTSW	17	50611004	missense	probably benign	0.05
R9253:Plcl2	UTSW	17	50608099	missense	probably damaging	1.00
R9453:Plcl2	UTSW	17	50608363	missense	probably damaging	1.00
R9469:Plcl2	UTSW	17	50606925	missense	probably benign	0.05
R9630:Plcl2	UTSW	17	50640119	missense	probably benign
X0026:Plcl2	UTSW	17	50607560	missense	probably benign	0.03
Z1088:Plcl2	UTSW	17	50606992	missense	probably damaging	1.00
Z1176:Plcl2	UTSW	17	50608456	missense	probably damaging	1.00

Posted On

2015-04-16