Mutagenetix > Incidental Mutation

Incidental Mutation 'R7264:Plch2'

564804

Institutional Source

Beutler Lab

Gene Symbol

Plch2

Ensembl Gene

ENSMUSG00000029055

Gene Name

phospholipase C, eta 2

Synonyms

PLCeta2, Plcl4, A930027K05Rik

MMRRC Submission

045354-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155067572-155141241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155083424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 505 (M505L)

Ref Sequence

ENSEMBL: ENSMUSP00000122704 (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: M505L

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

SMART Domains

Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: M505L

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 damaging
Transcript: ENSMUST00000135665
AA Change: M400L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: M400L

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: M505L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: M505L

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

possibly damaging
Transcript: ENSMUST00000145662
AA Change: M429L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: M429L

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 damaging
Transcript: ENSMUST00000176194
AA Change: M404L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: M404L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	C	A	3: 105,812,141 (GRCm39)	T9K	probably benign	Het
Ankib1	T	A	5: 3,805,739 (GRCm39)	N176I	probably damaging	Het
Ankle2	G	A	5: 110,385,689 (GRCm39)	G346D	probably damaging	Het
Anks1b	T	A	10: 90,348,732 (GRCm39)	M800K	probably benign	Het
Arhgef16	C	T	4: 154,365,387 (GRCm39)	G576D	probably damaging	Het
C2cd2	C	A	16: 97,677,419 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,579,156 (GRCm39)	N1847S		Het
Camta1	A	G	4: 151,537,856 (GRCm39)	I108T	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Cep192	A	G	18: 67,953,426 (GRCm39)	Y481C	probably damaging	Het
Cep250	A	G	2: 155,821,071 (GRCm39)	E887G	probably damaging	Het
Clcn1	C	A	6: 42,275,772 (GRCm39)	A298D	probably damaging	Het
Col11a1	A	G	3: 113,979,248 (GRCm39)	N1305S	unknown	Het
Depdc5	T	C	5: 33,125,089 (GRCm39)	V1155A	probably benign	Het
Dnah1	A	T	14: 30,991,851 (GRCm39)	D3050E	probably benign	Het
Dnah7a	T	C	1: 53,557,973 (GRCm39)	D2147G	probably benign	Het
Fbxl4	T	C	4: 22,386,145 (GRCm39)	Y251H	possibly damaging	Het
Gm19410	A	G	8: 36,252,920 (GRCm39)	M622V	probably benign	Het
Gm3402	T	A	5: 146,451,472 (GRCm39)	M110K	probably damaging	Het
Gm8257	T	A	14: 44,893,817 (GRCm39)	E82D	probably damaging	Het
Gne	T	A	4: 44,042,175 (GRCm39)	I498F	probably damaging	Het
Grep1	A	G	17: 23,931,308 (GRCm39)	S200P	not run	Het
Gstcd	C	T	3: 132,790,540 (GRCm39)	V76I	probably benign	Het
Hgs	G	T	11: 120,365,139 (GRCm39)	V176L	probably benign	Het
Hrob	T	A	11: 102,146,422 (GRCm39)	C233S	probably benign	Het
Igbp1b	T	C	6: 138,635,108 (GRCm39)	N112S	possibly damaging	Het
Itga11	A	T	9: 62,653,190 (GRCm39)	T355S	probably benign	Het
Lama1	A	T	17: 68,050,292 (GRCm39)	H301L		Het
Lhx9	T	C	1: 138,760,489 (GRCm39)	D296G	probably damaging	Het
Lrp1	C	T	10: 127,427,962 (GRCm39)	G537D	probably damaging	Het
Mroh2b	A	G	15: 4,950,844 (GRCm39)	I581V	possibly damaging	Het
Mrps36	A	G	13: 100,875,707 (GRCm39)	S36P	probably benign	Het
Or52z13	T	A	7: 103,246,955 (GRCm39)	I144N	probably damaging	Het
Plcb4	A	T	2: 135,807,000 (GRCm39)	N547I	probably benign	Het
Prg4	T	A	1: 150,329,818 (GRCm39)	N154Y	not run	Het
Rev1	A	T	1: 38,124,682 (GRCm39)	V420D	probably damaging	Het
Rin3	A	G	12: 102,356,374 (GRCm39)	I972V	probably benign	Het
Rtel1	T	C	2: 180,993,654 (GRCm39)	L775P	not run	Het
Scarf2	G	T	16: 17,621,154 (GRCm39)	C274F	possibly damaging	Het
Serinc2	C	T	4: 130,152,052 (GRCm39)	V271I	probably benign	Het
Slpi	C	A	2: 164,198,322 (GRCm39)		probably benign	Het
Spopfm1	C	T	3: 94,173,045 (GRCm39)	H14Y	possibly damaging	Het
Stxbp6	T	C	12: 44,948,782 (GRCm39)	D109G	probably damaging	Het
Tmem74	G	A	15: 43,730,864 (GRCm39)	L60F	probably benign	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trrap	T	C	5: 144,751,333 (GRCm39)	S1610P	probably benign	Het
Ttc33	C	T	15: 5,246,718 (GRCm39)	Q175*	probably null	Het
Usp34	A	G	11: 23,283,566 (GRCm39)	T106A	probably benign	Het
Vmn1r204	A	G	13: 22,741,167 (GRCm39)	D266G	probably benign	Het
Wdfy3	C	A	5: 102,003,389 (GRCm39)	A2905S	probably benign	Het
Wfs1	A	G	5: 37,125,190 (GRCm39)	L567P	probably damaging	Het
Zfp42	T	C	8: 43,749,312 (GRCm39)	E63G	probably damaging	Het
Zfp957	A	G	14: 79,451,080 (GRCm39)	F240L	probably damaging	Het
Zgrf1	A	T	3: 127,357,218 (GRCm39)	M815L	probably benign	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
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
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'- AGATACTGTAATTCTCCAGCTTGGC -3'
(R):5'- TGGTGGATCGCCTCTTAGAG -3'

Sequencing Primer
(F):5'- AATTCTCCAGCTTGGCCCCAG -3'
(R):5'- GCAGACGGCAGATCTTTTACC -3'

Posted On

2019-06-26