Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03407:Plch2'

421647

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 #

IGL03407

Quality Score

Status

Chromosome

Chromosomal Location

155067572-155141241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155074255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 870 (V870E)

Ref Sequence

ENSEMBL: ENSMUSP00000122704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105631] [ENSMUST00000135665] [ENSMUST00000139976] [ENSMUST00000176194] [ENSMUST00000186598]

AlphaFold

A2AP18

Predicted Effect

probably damaging
Transcript: ENSMUST00000105631
AA Change: V870E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: V870E

Domain	Start	End	E-Value	Type
low complexity region	28	45	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
PH	122	231	1.8e-6	SMART
EFh	247	275	7.29e-4	SMART
EFh	283	312	4.67e-2	SMART
Pfam:EF-hand_like	317	399	1.7e-26	PFAM
PLCXc	400	545	6.76e-76	SMART
low complexity region	559	572	N/A	INTRINSIC
low complexity region	659	676	N/A	INTRINSIC
PLCYc	707	821	1.25e-56	SMART
C2	840	948	1.66e-21	SMART
low complexity region	1088	1107	N/A	INTRINSIC
low complexity region	1227	1236	N/A	INTRINSIC
low complexity region	1356	1369	N/A	INTRINSIC
low complexity region	1421	1451	N/A	INTRINSIC
low complexity region	1454	1466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124517

SMART Domains

Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
C2	1	77	1.58e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127661

Predicted Effect

probably damaging
Transcript: ENSMUST00000135665
AA Change: V765E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: V765E

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 damaging
Transcript: ENSMUST00000139976
AA Change: V870E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: V870E

Domain	Start	End	E-Value	Type
low complexity region	28	45	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
PH	122	231	1.8e-6	SMART
EFh	247	275	7.29e-4	SMART
EFh	283	312	4.67e-2	SMART
Pfam:EF-hand_like	317	399	3.2e-27	PFAM
PLCXc	400	545	6.76e-76	SMART
low complexity region	559	572	N/A	INTRINSIC
low complexity region	659	676	N/A	INTRINSIC
PLCYc	707	821	1.25e-56	SMART
C2	840	948	1.66e-21	SMART
low complexity region	1087	1100	N/A	INTRINSIC
low complexity region	1166	1194	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000175982
AA Change: V618E

Predicted Effect

probably damaging
Transcript: ENSMUST00000176194
AA Change: V769E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: V769E

Domain	Start	End	E-Value	Type
PH	21	130	1.8e-6	SMART
EFh	146	174	7.29e-4	SMART
EFh	182	211	4.67e-2	SMART
Pfam:EF-hand_like	216	298	1.6e-25	PFAM
PLCXc	299	444	6.76e-76	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
PLCYc	606	720	1.25e-56	SMART
C2	739	847	1.66e-21	SMART
low complexity region	986	999	N/A	INTRINSIC
low complexity region	1065	1093	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186598
AA Change: V111E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: V111E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176620

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,904,111 (GRCm39)	V198A	probably benign	Het
Acot3	A	T	12: 84,105,415 (GRCm39)	D294V	probably damaging	Het
Dnajc10	T	C	2: 80,176,985 (GRCm39)	Y647H	probably damaging	Het
Eml6	G	A	11: 29,856,330 (GRCm39)	L67F	probably damaging	Het
Fbxw8	A	G	5: 118,280,741 (GRCm39)	C139R	probably damaging	Het
Fscb	G	T	12: 64,520,269 (GRCm39)	A399D	probably damaging	Het
Gm21726	T	C	13: 90,731,760 (GRCm39)		noncoding transcript	Het
Lama2	A	T	10: 27,223,017 (GRCm39)	V423D	probably damaging	Het
Mctp2	A	T	7: 71,861,400 (GRCm39)	I415N	probably benign	Het
Myh13	A	G	11: 67,242,978 (GRCm39)	T964A	probably damaging	Het
Ncf4	A	G	15: 78,138,981 (GRCm39)		probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Or3a1d	G	T	11: 74,238,371 (GRCm39)	T13K	possibly damaging	Het
Or51m1	A	T	7: 103,578,158 (GRCm39)	N43Y	probably damaging	Het
Prss55	A	T	14: 64,314,539 (GRCm39)	D210E	probably damaging	Het
Rad51ap2	A	G	12: 11,507,198 (GRCm39)	I373M	possibly damaging	Het
Rbm12	C	A	2: 155,939,484 (GRCm39)	G263*	probably null	Het
Rnf167	G	T	11: 70,541,879 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,477,237 (GRCm39)	I715T	probably damaging	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
St8sia1	T	C	6: 142,859,775 (GRCm39)	N118S	possibly damaging	Het
Tas1r3	A	G	4: 155,946,439 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,893,535 (GRCm39)	S882P	probably benign	Het
Tmem25	A	G	9: 44,707,636 (GRCm39)	S220P	probably damaging	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trex1	C	T	9: 108,887,395 (GRCm39)	G199S	probably damaging	Het
Ttn	T	C	2: 76,544,545 (GRCm39)	I32814V	probably damaging	Het
Vmn2r15	T	A	5: 109,434,185 (GRCm39)	R840*	probably null	Het
Vps13b	A	T	15: 35,640,012 (GRCm39)	Q1294L	possibly damaging	Het
Zdhhc7	T	C	8: 120,812,131 (GRCm39)	N164D	probably 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
IGL02024:Plch2	APN	4	155,127,595 (GRCm39)	intron	probably benign
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
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

2016-08-02