Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02024:Plch2'

184104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plch2

Ensembl Gene

ENSMUSG00000029055

Gene Name

phospholipase C, eta 2

Synonyms

PLCeta2, Plcl4, A930027K05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02024

Quality Score

Status

Chromosome

Chromosomal Location

155067572-155141241 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 155127595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131173] [ENSMUST00000135665] [ENSMUST00000186598]

AlphaFold

A2AP18

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097750

SMART Domains

Protein: ENSMUSP00000095357
Gene: ENSMUSG00000073686

Domain	Start	End	E-Value	Type
low complexity region	22	42	N/A	INTRINSIC
low complexity region	108	147	N/A	INTRINSIC
low complexity region	188	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131173

SMART Domains

Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
Blast:PH	31	111	6e-49	BLAST
SCOP:d1mai__	34	111	4e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135665

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
PH	17	126	1.8e-6	SMART
EFh	142	170	7.29e-4	SMART
EFh	178	207	4.67e-2	SMART
Pfam:EF-hand_like	212	294	2.8e-25	PFAM
PLCXc	295	440	6.76e-76	SMART
low complexity region	454	467	N/A	INTRINSIC
low complexity region	554	571	N/A	INTRINSIC
PLCYc	602	716	1.25e-56	SMART
C2	735	843	1.66e-21	SMART
low complexity region	983	1002	N/A	INTRINSIC
low complexity region	1122	1131	N/A	INTRINSIC
low complexity region	1251	1264	N/A	INTRINSIC
low complexity region	1316	1346	N/A	INTRINSIC
low complexity region	1349	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186598

SMART Domains

Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
C2	79	189	5.8e-18	SMART
low complexity region	328	341	N/A	INTRINSIC
low complexity region	407	435	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,113,705 (GRCm39)	H246Y	probably damaging	Het
Abat	G	A	16: 8,429,000 (GRCm39)	A322T	probably damaging	Het
Bcat1	A	G	6: 144,978,564 (GRCm39)	V152A	probably damaging	Het
Btaf1	A	G	19: 36,969,826 (GRCm39)		probably benign	Het
Elavl2	T	C	4: 91,141,776 (GRCm39)	T291A	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Fcgbp	G	A	7: 27,805,799 (GRCm39)	C2026Y	probably damaging	Het
Fcgrt	T	A	7: 44,744,682 (GRCm39)	H258L	probably damaging	Het
Galnt6	C	T	15: 100,601,374 (GRCm39)	D302N	probably benign	Het
Gldc	T	A	19: 30,078,227 (GRCm39)	R923S	probably damaging	Het
Hspg2	G	T	4: 137,267,384 (GRCm39)	A2033S	probably damaging	Het
Htr2c	T	A	X: 145,858,921 (GRCm39)	M77K	probably damaging	Het
Ifi208	A	G	1: 173,510,856 (GRCm39)	Y337C	probably damaging	Het
Ints11	G	T	4: 155,972,972 (GRCm39)	W554L	probably damaging	Het
Itgbl1	T	A	14: 124,094,904 (GRCm39)	C186S	probably damaging	Het
Lipf	A	G	19: 33,953,995 (GRCm39)	Y362C	probably damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Mroh9	T	G	1: 162,890,071 (GRCm39)	N222T	possibly damaging	Het
Msl3	C	A	X: 167,453,247 (GRCm39)	R89L	probably benign	Het
Nrip1	T	A	16: 76,088,563 (GRCm39)	D998V	probably benign	Het
Nrk	T	A	X: 137,896,678 (GRCm39)	I1265N	probably damaging	Het
Ntn5	A	G	7: 45,340,830 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,771,307 (GRCm39)	N146S	probably benign	Het
Or5w20	A	T	2: 87,727,243 (GRCm39)	R233S	possibly damaging	Het
Or6s1	T	G	14: 51,308,766 (GRCm39)	E28A	probably benign	Het
Porcn	C	T	X: 8,067,901 (GRCm39)	V233I	probably benign	Het
Ppp2r2a	T	C	14: 67,276,361 (GRCm39)	K48R	probably benign	Het
Ppp4r3c1	G	A	X: 88,975,129 (GRCm39)	T356I	probably benign	Het
Rccd1	A	T	7: 79,968,755 (GRCm39)	D268E	probably benign	Het
Sacs	C	A	14: 61,427,127 (GRCm39)	S178R	probably damaging	Het
Samd12	T	A	15: 53,521,862 (GRCm39)	D116V	probably damaging	Het
Slc12a8	A	G	16: 33,428,568 (GRCm39)	E46G	probably damaging	Het
Slc30a10	A	T	1: 185,187,438 (GRCm39)	I60F	possibly damaging	Het
Slc6a8	C	T	X: 72,722,583 (GRCm39)		probably benign	Het
Sos2	A	G	12: 69,664,822 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,783,338 (GRCm39)	V79A	probably benign	Het
Tmem184c	A	T	8: 78,331,443 (GRCm39)	V102E	probably benign	Het
Ttc19	G	T	11: 62,203,939 (GRCm39)	R300I	probably damaging	Het
Unc5d	T	A	8: 29,142,855 (GRCm39)	I866F	probably benign	Het
Vmn1r7	A	T	6: 57,001,874 (GRCm39)	C129S	probably benign	Het
Vps41	T	A	13: 18,975,827 (GRCm39)		probably benign	Het
Vwa8	C	T	14: 79,331,724 (GRCm39)	A1275V	possibly damaging	Het

Other mutations in Plch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Plch2	APN	4	155,091,099 (GRCm39)	missense	probably damaging	1.00
IGL02580:Plch2	APN	4	155,069,221 (GRCm39)	missense	probably benign	0.03
IGL03370:Plch2	APN	4	155,071,371 (GRCm39)	missense	probably benign	0.18
IGL03407:Plch2	APN	4	155,074,255 (GRCm39)	missense	probably damaging	1.00
tolerant	UTSW	4	155,069,092 (GRCm39)	missense	probably benign	0.01
PIT4418001:Plch2	UTSW	4	155,073,960 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Plch2	UTSW	4	155,093,483 (GRCm39)	missense	probably damaging	1.00
R0117:Plch2	UTSW	4	155,069,815 (GRCm39)	unclassified	probably benign
R0347:Plch2	UTSW	4	155,071,178 (GRCm39)	missense	possibly damaging	0.91
R0361:Plch2	UTSW	4	155,091,168 (GRCm39)	missense	possibly damaging	0.95
R0413:Plch2	UTSW	4	155,091,373 (GRCm39)	critical splice donor site	probably null
R0487:Plch2	UTSW	4	155,093,469 (GRCm39)	missense	probably damaging	1.00
R0514:Plch2	UTSW	4	155,083,343 (GRCm39)	missense	probably damaging	1.00
R0734:Plch2	UTSW	4	155,080,740 (GRCm39)	missense	probably damaging	1.00
R0766:Plch2	UTSW	4	155,074,256 (GRCm39)	missense	probably damaging	1.00
R1306:Plch2	UTSW	4	155,091,597 (GRCm39)	missense	probably damaging	1.00
R1312:Plch2	UTSW	4	155,074,256 (GRCm39)	missense	probably damaging	1.00
R1467:Plch2	UTSW	4	155,068,189 (GRCm39)	missense	probably benign	0.02
R1467:Plch2	UTSW	4	155,068,189 (GRCm39)	missense	probably benign	0.02
R1602:Plch2	UTSW	4	155,068,907 (GRCm39)	missense	probably damaging	0.99
R1717:Plch2	UTSW	4	155,082,729 (GRCm39)	missense	probably benign
R1731:Plch2	UTSW	4	155,091,451 (GRCm39)	missense	possibly damaging	0.83
R1769:Plch2	UTSW	4	155,084,540 (GRCm39)	missense	probably damaging	1.00
R1875:Plch2	UTSW	4	155,082,965 (GRCm39)	missense	probably damaging	1.00
R1974:Plch2	UTSW	4	155,069,410 (GRCm39)	missense	possibly damaging	0.77
R2031:Plch2	UTSW	4	155,127,484 (GRCm39)	intron	probably benign
R2050:Plch2	UTSW	4	155,085,275 (GRCm39)	missense	probably benign	0.00
R2061:Plch2	UTSW	4	155,127,298 (GRCm39)	intron	probably benign
R2073:Plch2	UTSW	4	155,074,366 (GRCm39)	missense	probably damaging	1.00
R2075:Plch2	UTSW	4	155,074,366 (GRCm39)	missense	probably damaging	1.00
R2109:Plch2	UTSW	4	155,069,054 (GRCm39)	missense	possibly damaging	0.92
R2126:Plch2	UTSW	4	155,083,456 (GRCm39)	missense	probably damaging	1.00
R2265:Plch2	UTSW	4	155,077,461 (GRCm39)	missense	probably benign	0.06
R2266:Plch2	UTSW	4	155,077,461 (GRCm39)	missense	probably benign	0.06
R2269:Plch2	UTSW	4	155,077,461 (GRCm39)	missense	probably benign	0.06
R2280:Plch2	UTSW	4	155,068,766 (GRCm39)	missense	probably damaging	1.00
R2281:Plch2	UTSW	4	155,068,766 (GRCm39)	missense	probably damaging	1.00
R2432:Plch2	UTSW	4	155,070,621 (GRCm39)	makesense	probably null
R2971:Plch2	UTSW	4	155,075,224 (GRCm39)	missense	probably benign	0.29
R3437:Plch2	UTSW	4	155,075,470 (GRCm39)	critical splice donor site	probably null
R3980:Plch2	UTSW	4	155,069,255 (GRCm39)	missense	probably benign	0.00
R4757:Plch2	UTSW	4	155,080,690 (GRCm39)	missense	possibly damaging	0.88
R4827:Plch2	UTSW	4	155,075,570 (GRCm39)	missense	probably damaging	1.00
R4828:Plch2	UTSW	4	155,069,092 (GRCm39)	missense	probably benign	0.01
R4869:Plch2	UTSW	4	155,073,885 (GRCm39)	missense	probably benign	0.28
R5020:Plch2	UTSW	4	155,091,540 (GRCm39)	missense	probably damaging	1.00
R5050:Plch2	UTSW	4	155,127,766 (GRCm39)	intron	probably benign
R5126:Plch2	UTSW	4	155,084,976 (GRCm39)	missense	probably damaging	1.00
R5237:Plch2	UTSW	4	155,095,251 (GRCm39)	missense	probably benign
R5274:Plch2	UTSW	4	155,083,411 (GRCm39)	missense	probably damaging	1.00
R5296:Plch2	UTSW	4	155,074,456 (GRCm39)	splice site	probably null
R5324:Plch2	UTSW	4	155,068,991 (GRCm39)	missense	probably benign
R5475:Plch2	UTSW	4	155,084,594 (GRCm39)	missense	probably damaging	1.00
R5494:Plch2	UTSW	4	155,075,579 (GRCm39)	missense	probably damaging	1.00
R5811:Plch2	UTSW	4	155,077,024 (GRCm39)	missense	possibly damaging	0.62
R6083:Plch2	UTSW	4	155,085,275 (GRCm39)	missense	probably benign	0.00
R6092:Plch2	UTSW	4	155,068,829 (GRCm39)	missense	probably benign	0.02
R6253:Plch2	UTSW	4	155,091,558 (GRCm39)	missense	probably damaging	1.00
R6456:Plch2	UTSW	4	155,077,459 (GRCm39)	missense	probably damaging	1.00
R7038:Plch2	UTSW	4	155,074,489 (GRCm39)	splice site	probably null
R7084:Plch2	UTSW	4	155,071,448 (GRCm39)	missense	probably benign	0.31
R7210:Plch2	UTSW	4	155,093,543 (GRCm39)	missense	probably damaging	1.00
R7216:Plch2	UTSW	4	155,068,685 (GRCm39)	missense	probably benign
R7264:Plch2	UTSW	4	155,083,424 (GRCm39)	missense	probably damaging	0.98
R7291:Plch2	UTSW	4	155,082,929 (GRCm39)	missense	probably damaging	1.00
R7423:Plch2	UTSW	4	155,068,194 (GRCm39)	missense	probably damaging	1.00
R7436:Plch2	UTSW	4	155,068,553 (GRCm39)	missense	probably benign	0.01
R7438:Plch2	UTSW	4	155,084,917 (GRCm39)	missense	probably damaging	1.00
R7594:Plch2	UTSW	4	155,091,484 (GRCm39)	missense	probably damaging	1.00
R7663:Plch2	UTSW	4	155,075,619 (GRCm39)	missense	probably damaging	0.96
R7698:Plch2	UTSW	4	155,087,244 (GRCm39)	missense	possibly damaging	0.95
R7844:Plch2	UTSW	4	155,073,922 (GRCm39)	missense	probably damaging	1.00
R7939:Plch2	UTSW	4	155,087,235 (GRCm39)	missense	possibly damaging	0.91
R8003:Plch2	UTSW	4	155,138,980 (GRCm39)	missense	unknown
R8007:Plch2	UTSW	4	155,087,288 (GRCm39)	missense	probably damaging	1.00
R8281:Plch2	UTSW	4	155,091,430 (GRCm39)	missense	probably benign	0.07
R8434:Plch2	UTSW	4	155,074,192 (GRCm39)	missense	probably damaging	1.00
R8504:Plch2	UTSW	4	155,068,852 (GRCm39)	missense	probably benign	0.31
R8516:Plch2	UTSW	4	155,070,764 (GRCm39)	missense	probably benign
R8558:Plch2	UTSW	4	155,083,391 (GRCm39)	missense	probably damaging	1.00
R8722:Plch2	UTSW	4	155,069,860 (GRCm39)	unclassified	probably benign
R8768:Plch2	UTSW	4	155,083,324 (GRCm39)	missense	probably damaging	1.00
R8787:Plch2	UTSW	4	155,070,875 (GRCm39)	missense	probably benign	0.00
R8826:Plch2	UTSW	4	155,071,140 (GRCm39)	missense	probably benign	0.00
R8955:Plch2	UTSW	4	155,077,023 (GRCm39)	missense	probably benign	0.00
R9032:Plch2	UTSW	4	155,084,976 (GRCm39)	missense	probably damaging	1.00
R9085:Plch2	UTSW	4	155,084,976 (GRCm39)	missense	probably damaging	1.00
R9423:Plch2	UTSW	4	155,071,049 (GRCm39)	missense
R9649:Plch2	UTSW	4	155,068,516 (GRCm39)	missense	probably benign
R9652:Plch2	UTSW	4	155,082,942 (GRCm39)	missense	probably benign
R9725:Plch2	UTSW	4	155,084,992 (GRCm39)	missense	probably damaging	1.00
R9742:Plch2	UTSW	4	155,082,912 (GRCm39)	missense	probably damaging	0.99
R9789:Plch2	UTSW	4	155,095,322 (GRCm39)	critical splice donor site	probably null
RF014:Plch2	UTSW	4	155,091,577 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07