Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Plcz1'

239446

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139989673-140041457 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140002081 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 525 (R525Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000129986] [ENSMUST00000137148]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032356
AA Change: R525Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: R525Q

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	80	162	9.6e-26	PFAM
PLCXc	163	307	5.17e-72	SMART
low complexity region	374	385	N/A	INTRINSIC
PLCYc	386	502	1.52e-51	SMART
C2	521	625	2.06e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129986

Predicted Effect

probably benign
Transcript: ENSMUST00000137148

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous knockout mice display normal spermatogenesis and sperm motility but are sub-fertile because of a failure to induce Ca2+ oscillations in oocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Plcz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Plcz1	APN	6	140002256	splice site	probably benign
IGL01825:Plcz1	APN	6	140003916	missense	probably benign	0.03
IGL01885:Plcz1	APN	6	140002111	missense	probably benign	0.14
IGL02539:Plcz1	APN	6	139992964	missense	probably benign	0.06
IGL02754:Plcz1	APN	6	140010581	missense	probably benign	0.00
IGL03379:Plcz1	APN	6	139990764	missense	possibly damaging	0.69
IGL03412:Plcz1	APN	6	140016097	missense	probably damaging	0.99
R0005:Plcz1	UTSW	6	140040564	splice site	probably benign
R0034:Plcz1	UTSW	6	140020448	utr 3 prime	probably benign
R0078:Plcz1	UTSW	6	139989784	missense	probably damaging	1.00
R0142:Plcz1	UTSW	6	140007697	missense	probably damaging	1.00
R0200:Plcz1	UTSW	6	139990733	missense	probably damaging	1.00
R0399:Plcz1	UTSW	6	140023230	missense	possibly damaging	0.95
R0599:Plcz1	UTSW	6	140028542	missense	probably benign
R0608:Plcz1	UTSW	6	139990733	missense	probably damaging	1.00
R1854:Plcz1	UTSW	6	139993049	missense	probably benign	0.36
R2895:Plcz1	UTSW	6	140023151	missense	possibly damaging	0.79
R3413:Plcz1	UTSW	6	140002081	missense	probably damaging	0.98
R4239:Plcz1	UTSW	6	140040618	unclassified	probably null
R4441:Plcz1	UTSW	6	139990687	missense	probably benign	0.00
R4889:Plcz1	UTSW	6	140007748	missense	probably benign	0.00
R4953:Plcz1	UTSW	6	140028551	missense	possibly damaging	0.89
R5175:Plcz1	UTSW	6	140039663	missense	possibly damaging	0.94
R5359:Plcz1	UTSW	6	140028452	missense	probably damaging	1.00
R5401:Plcz1	UTSW	6	139993052	splice site	probably null
R5505:Plcz1	UTSW	6	140016216	missense	probably damaging	0.99
R5558:Plcz1	UTSW	6	140039755	missense	probably damaging	1.00
R5581:Plcz1	UTSW	6	140023125	missense	probably damaging	1.00
R6252:Plcz1	UTSW	6	140007603	critical splice donor site	probably null
R6569:Plcz1	UTSW	6	140007707	missense	possibly damaging	0.62
R6750:Plcz1	UTSW	6	140028438	missense	possibly damaging	0.74
R7073:Plcz1	UTSW	6	140023123	nonsense	probably null
R7204:Plcz1	UTSW	6	140010424	missense	probably benign	0.05
R7309:Plcz1	UTSW	6	140023156	missense	probably damaging	1.00
R7446:Plcz1	UTSW	6	140013586	missense	possibly damaging	0.63
R7503:Plcz1	UTSW	6	139990748	missense	probably damaging	1.00
R7634:Plcz1	UTSW	6	140016127	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTGTCATGTCTTCAAGGTCATC -3'
(R):5'- CTTGAACTTTCAAACCCCTGG -3'

Sequencing Primer
(F):5'- TCTTCAAGGTCATCAGCAGG -3'
(R):5'- CTGGACTGCCTATGGATTTGCAAAAC -3'

Posted On

2014-10-15