Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Plcz1'

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267805

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3413 (G1)

Quality Score

225

Status

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: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	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
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		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
helium	UTSW	6	140016127	missense	probably damaging	1.00
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
R2212:Plcz1	UTSW	6	140002081	missense	probably damaging	0.98
R2895:Plcz1	UTSW	6	140023151	missense	possibly damaging	0.79
R4239:Plcz1	UTSW	6	140040618	splice site	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
R8192:Plcz1	UTSW	6	140023260	missense	probably damaging	1.00
R8302:Plcz1	UTSW	6	140028437	missense	probably damaging	1.00
Z1176:Plcz1	UTSW	6	140013676	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- AGTGTCATGTCTTCAAGGTCATCAG -3'
(R):5'- GCCTTGAACTTTCAAACCCCTG -3'

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

Posted On

2015-02-18