Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Plch2'

393537

Institutional Source

Beutler Lab

Gene Symbol

Plch2

Ensembl Gene

ENSMUSG00000029055

Gene Name

phospholipase C, eta 2

Synonyms

PLCeta2, Plcl4, A930027K05Rik

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5126 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

155067572-155141241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155084976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 321 (D321G)

Ref Sequence

ENSEMBL: ENSMUSP00000134750 (fasta)

Gene Model

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

AlphaFold

A2AP18

Predicted Effect

probably damaging
Transcript: ENSMUST00000105631
AA Change: D422G

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

SMART Domains

Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: D422G

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

noncoding transcript
Transcript: ENSMUST00000127661

Predicted Effect

probably damaging
Transcript: ENSMUST00000135665
AA Change: D317G

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

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: D317G

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: D422G

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

SMART Domains

Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: D422G

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: D346G

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

SMART Domains

Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: D346G

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

possibly damaging
Transcript: ENSMUST00000175982
AA Change: D206G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000176194
AA Change: D321G

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

SMART Domains

Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: D321G

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 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

Meta Mutation Damage Score

0.5154

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,495 (GRCm39)	V781A	probably damaging	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Jph3	T	C	8: 122,479,787 (GRCm39)	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,040,790 (GRCm39)	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Wdcp	C	A	12: 4,900,617 (GRCm39)	R158S	probably damaging	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	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
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
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'- ACTCCCCTGTGGCATTAGTC -3'
(R):5'- CAGCTTGCACAGAGGATTCCAC -3'

Sequencing Primer
(F):5'- TGTGGCATTAGTCCAAGCC -3'
(R):5'- ACAGAGGATTCCACCTGCG -3'

Posted On

2016-06-15