Mutagenetix > Incidental Mutation

Incidental Mutation 'R1306:Plch2'

157797

Institutional Source

Beutler Lab

Gene Symbol

Plch2

Ensembl Gene

ENSMUSG00000029055

Gene Name

phospholipase C, eta 2

Synonyms

PLCeta2, Plcl4, A930027K05Rik

MMRRC Submission

039372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1306 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155067572-155141241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155091597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 71 (E71G)

Ref Sequence

ENSEMBL: ENSMUSP00000134750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105631] [ENSMUST00000126098] [ENSMUST00000131173] [ENSMUST00000135665] [ENSMUST00000139976] [ENSMUST00000145662] [ENSMUST00000176194] [ENSMUST00000186598]

AlphaFold

A2AP18

Predicted Effect

probably damaging
Transcript: ENSMUST00000105631
AA Change: E172G

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

SMART Domains

Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: E172G

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: ENSMUST00000126098

SMART Domains

Protein: ENSMUSP00000115440
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
SCOP:d1mai__	39	58	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131173
AA Change: E89G

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

SMART Domains

Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055
AA Change: E89G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135665
AA Change: E67G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: E67G

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: E172G

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

SMART Domains

Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: E172G

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

probably damaging
Transcript: ENSMUST00000145662
AA Change: E96G

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

SMART Domains

Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: E96G

Domain	Start	End	E-Value	Type
PH	46	155	1.8e-6	SMART
EFh	171	199	7.29e-4	SMART
EFh	207	236	4.67e-2	SMART
Pfam:EF-hand_like	241	323	5.2e-27	PFAM
PLCXc	324	469	6.76e-76	SMART
low complexity region	483	496	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175982

Predicted Effect

probably damaging
Transcript: ENSMUST00000176194
AA Change: E71G

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

SMART Domains

Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: E71G

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

probably damaging
Transcript: ENSMUST00000186598
AA Change: E89G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: E89G

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

1x: 98.8%
3x: 97.9%
10x: 95.1%
20x: 89.8%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	A	7: 80,743,621 (GRCm39)	L1146H	probably damaging	Het
Atad2b	A	G	12: 5,024,239 (GRCm39)	I121M	probably benign	Het
Atg2a	A	T	19: 6,303,051 (GRCm39)	T1053S	probably benign	Het
Bend5	C	T	4: 111,316,970 (GRCm39)	Q127*	probably null	Het
Ccser1	G	A	6: 62,357,090 (GRCm39)	D843N	probably damaging	Het
Dennd4b	A	G	3: 90,178,472 (GRCm39)	T512A	probably benign	Het
Dnmbp	A	T	19: 43,890,218 (GRCm39)	D516E	probably benign	Het
Dok3	C	A	13: 55,675,261 (GRCm39)	E86*	probably null	Het
Fat3	A	G	9: 16,287,975 (GRCm39)	I516T	probably damaging	Het
Gabbr1	T	A	17: 37,366,882 (GRCm39)		probably null	Het
Gjd2	T	C	2: 113,842,346 (GRCm39)	T44A	probably damaging	Het
Mcm7	C	A	5: 138,165,465 (GRCm39)	A480S	probably damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pdzph1	T	C	17: 59,239,427 (GRCm39)	H967R	possibly damaging	Het
Pik3c2g	A	G	6: 139,718,154 (GRCm39)	N227S	probably benign	Het
Pkd1	T	C	17: 24,792,146 (GRCm39)	S1278P	probably damaging	Het
Pnma8a	A	G	7: 16,695,950 (GRCm39)	R428G	probably benign	Het
Sertad2	T	C	11: 20,598,388 (GRCm39)	S195P	probably benign	Het
Slc19a3	A	G	1: 83,000,483 (GRCm39)	L178S	probably damaging	Het
Smarca2	A	G	19: 26,748,388 (GRCm39)	D139G	possibly damaging	Het
Tm4sf19	G	A	16: 32,226,720 (GRCm39)	V170M	probably damaging	Het
Vwa3a	C	G	7: 120,399,613 (GRCm39)	S1031R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGCCTAAGGATATTGGTCCCTG -3'
(R):5'- ACTTGTTACTGAAGCAGCCGCAG -3'

Sequencing Primer
(F):5'- CTAAGGATATTGGTCCCTGGTACG -3'
(R):5'- GGTGCCTAGACTGCCAAAG -3'

Posted On

2014-02-18