Mutagenetix > Incidental Mutation

Incidental Mutation 'R9779:Plcz1'

733905

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9779 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139935399-139987183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139947882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 500 (I500N)

Ref Sequence

ENSEMBL: ENSMUSP00000032356 (fasta)

Gene Model

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

AlphaFold

Q8K4D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032356
AA Change: I500N

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: I500N

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	G	11: 53,263,734 (GRCm39)	Y251*	probably null	Het
Amdhd1	G	T	10: 93,370,474 (GRCm39)	F121L	possibly damaging	Het
Apon	A	T	10: 128,091,065 (GRCm39)	T248S	probably benign	Het
Arhgap28	A	T	17: 68,152,764 (GRCm39)	I719K	probably benign	Het
Atf7ip2	A	T	16: 10,055,044 (GRCm39)	K270N	possibly damaging	Het
Atp2c1	A	G	9: 105,291,919 (GRCm39)	V881A	probably damaging	Het
Atp6v0a1	C	T	11: 100,924,938 (GRCm39)	T341M	probably damaging	Het
Cep192	T	C	18: 67,968,348 (GRCm39)	V944A	probably damaging	Het
Cplane1	C	A	15: 8,230,786 (GRCm39)	T1021K	possibly damaging	Het
Cyp26b1	T	C	6: 84,552,113 (GRCm39)	T342A	probably benign	Het
Cyp2c37	A	G	19: 39,998,323 (GRCm39)	E405G	probably benign	Het
Dab2	T	C	15: 6,460,525 (GRCm39)	S478P	probably benign	Het
Diablo	A	G	5: 123,662,132 (GRCm39)		probably null	Het
Dnajc8	A	G	4: 132,277,737 (GRCm39)	E174G	possibly damaging	Het
Eif4g1	T	C	16: 20,498,251 (GRCm39)	V336A	probably damaging	Het
Eif5a	C	T	11: 69,810,021 (GRCm39)	V41I	probably benign	Het
Epb41l5	C	T	1: 119,545,093 (GRCm39)		probably null	Het
F12	A	C	13: 55,566,012 (GRCm39)	V565G	probably damaging	Het
Fras1	C	A	5: 96,717,353 (GRCm39)	T389N	probably damaging	Het
Galnt13	T	A	2: 54,623,062 (GRCm39)	D69E	probably benign	Het
Golph3l	C	T	3: 95,499,041 (GRCm39)	T61I	probably damaging	Het
Grm3	A	T	5: 9,561,656 (GRCm39)	N731K	possibly damaging	Het
Hmgxb4	C	T	8: 75,750,629 (GRCm39)	S484F	possibly damaging	Het
Hsd17b11	C	A	5: 104,157,771 (GRCm39)	V114F	probably damaging	Het
Hspa1a	C	T	17: 35,190,778 (GRCm39)	V42M	probably damaging	Het
Igf1r	A	G	7: 67,654,065 (GRCm39)	Y201C	probably damaging	Het
Inf2	C	A	12: 112,574,786 (GRCm39)	P786T	unknown	Het
Ints12	T	G	3: 132,812,752 (GRCm39)	V236G	probably benign	Het
Itga2b	T	C	11: 102,348,147 (GRCm39)	N818S	probably damaging	Het
Itgb4	T	C	11: 115,882,485 (GRCm39)	L853P	probably damaging	Het
Kap	A	G	6: 133,829,006 (GRCm39)	V42A	probably benign	Het
Kcnk1	T	C	8: 126,751,807 (GRCm39)	S138P	probably damaging	Het
Klra2	G	A	6: 131,198,801 (GRCm39)	P247S	unknown	Het
Lrba	T	C	3: 86,233,078 (GRCm39)	I813T	probably damaging	Het
Lrrc27	A	T	7: 138,816,886 (GRCm39)	Q428L	possibly damaging	Het
Macf1	G	A	4: 123,348,789 (GRCm39)	T4046I	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Meox1	T	C	11: 101,769,470 (GRCm39)	E242G	probably benign	Het
Neo1	A	T	9: 58,886,009 (GRCm39)	L316*	probably null	Het
Notch3	A	G	17: 32,372,757 (GRCm39)	Y605H	probably damaging	Het
Nsf	T	C	11: 103,719,352 (GRCm39)	D650G	probably damaging	Het
Obscn	C	A	11: 59,026,441 (GRCm39)	R254L	probably benign	Het
Odam	G	A	5: 88,037,327 (GRCm39)		probably null	Het
Or5v1b	A	T	17: 37,841,048 (GRCm39)	Y60F	probably damaging	Het
Or7g12	A	T	9: 18,900,135 (GRCm39)	M284L	probably benign	Het
Pcdhb9	A	T	18: 37,535,253 (GRCm39)	M416L	probably benign	Het
Prkn	T	C	17: 11,854,318 (GRCm39)	S285P	possibly damaging	Het
Rab14	G	A	2: 35,080,047 (GRCm39)	T50I		Het
Rag1	A	T	2: 101,474,153 (GRCm39)	Y330N	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rasgrf1	G	T	9: 89,873,551 (GRCm39)	C620F	probably damaging	Het
Rhbdl3	A	G	11: 80,214,317 (GRCm39)	T143A	probably damaging	Het
Robo2	A	C	16: 73,767,965 (GRCm39)	M609R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc49a4	T	C	16: 35,543,186 (GRCm39)	D316G	probably benign	Het
Sod3	G	A	5: 52,525,435 (GRCm39)	V45I	probably benign	Het
Ticrr	A	G	7: 79,328,802 (GRCm39)	D647G	probably benign	Het
Tmem119	G	A	5: 113,933,204 (GRCm39)	S199L	possibly damaging	Het
Tmem63c	T	A	12: 87,104,419 (GRCm39)	I80N	probably damaging	Het
Trp53bp1	A	T	2: 121,066,469 (GRCm39)	D752E	probably damaging	Het
Ttn	A	G	2: 76,550,570 (GRCm39)	S31571P	probably damaging	Het
Ttn	A	T	2: 76,667,146 (GRCm39)	S11487T	unknown	Het
Vmn1r123	T	C	7: 20,896,111 (GRCm39)	M1T	probably null	Het
Vmn1r85	A	T	7: 12,818,308 (GRCm39)	S279T	probably benign	Het
Vps13d	A	G	4: 144,798,972 (GRCm39)	V3635A		Het
Wdr95	A	G	5: 149,505,293 (GRCm39)	D358G	probably benign	Het
Zfp1005	A	G	2: 150,108,064 (GRCm39)	D8G	possibly damaging	Het
Zfp764l1	A	T	7: 126,991,469 (GRCm39)	C173S	probably damaging	Het

Other mutations in Plcz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Plcz1	APN	6	139,947,982 (GRCm39)	splice site	probably benign
IGL01825:Plcz1	APN	6	139,949,642 (GRCm39)	missense	probably benign	0.03
IGL01885:Plcz1	APN	6	139,947,837 (GRCm39)	missense	probably benign	0.14
IGL02539:Plcz1	APN	6	139,938,690 (GRCm39)	missense	probably benign	0.06
IGL02754:Plcz1	APN	6	139,956,307 (GRCm39)	missense	probably benign	0.00
IGL03379:Plcz1	APN	6	139,936,490 (GRCm39)	missense	possibly damaging	0.69
IGL03412:Plcz1	APN	6	139,961,823 (GRCm39)	missense	probably damaging	0.99
helium	UTSW	6	139,961,853 (GRCm39)	missense	probably damaging	1.00
R0005:Plcz1	UTSW	6	139,986,290 (GRCm39)	splice site	probably benign
R0034:Plcz1	UTSW	6	139,966,174 (GRCm39)	utr 3 prime	probably benign
R0078:Plcz1	UTSW	6	139,935,510 (GRCm39)	missense	probably damaging	1.00
R0142:Plcz1	UTSW	6	139,953,423 (GRCm39)	missense	probably damaging	1.00
R0200:Plcz1	UTSW	6	139,936,459 (GRCm39)	missense	probably damaging	1.00
R0399:Plcz1	UTSW	6	139,968,956 (GRCm39)	missense	possibly damaging	0.95
R0599:Plcz1	UTSW	6	139,974,268 (GRCm39)	missense	probably benign
R0608:Plcz1	UTSW	6	139,936,459 (GRCm39)	missense	probably damaging	1.00
R1854:Plcz1	UTSW	6	139,938,775 (GRCm39)	missense	probably benign	0.36
R2212:Plcz1	UTSW	6	139,947,807 (GRCm39)	missense	probably damaging	0.98
R2895:Plcz1	UTSW	6	139,968,877 (GRCm39)	missense	possibly damaging	0.79
R3413:Plcz1	UTSW	6	139,947,807 (GRCm39)	missense	probably damaging	0.98
R4239:Plcz1	UTSW	6	139,986,344 (GRCm39)	splice site	probably null
R4441:Plcz1	UTSW	6	139,936,413 (GRCm39)	missense	probably benign	0.00
R4889:Plcz1	UTSW	6	139,953,474 (GRCm39)	missense	probably benign	0.00
R4953:Plcz1	UTSW	6	139,974,277 (GRCm39)	missense	possibly damaging	0.89
R5175:Plcz1	UTSW	6	139,985,389 (GRCm39)	missense	possibly damaging	0.94
R5359:Plcz1	UTSW	6	139,974,178 (GRCm39)	missense	probably damaging	1.00
R5401:Plcz1	UTSW	6	139,938,778 (GRCm39)	splice site	probably null
R5505:Plcz1	UTSW	6	139,961,942 (GRCm39)	missense	probably damaging	0.99
R5558:Plcz1	UTSW	6	139,985,481 (GRCm39)	missense	probably damaging	1.00
R5581:Plcz1	UTSW	6	139,968,851 (GRCm39)	missense	probably damaging	1.00
R6252:Plcz1	UTSW	6	139,953,329 (GRCm39)	critical splice donor site	probably null
R6569:Plcz1	UTSW	6	139,953,433 (GRCm39)	missense	possibly damaging	0.62
R6750:Plcz1	UTSW	6	139,974,164 (GRCm39)	missense	possibly damaging	0.74
R7073:Plcz1	UTSW	6	139,968,849 (GRCm39)	nonsense	probably null
R7204:Plcz1	UTSW	6	139,956,150 (GRCm39)	missense	probably benign	0.05
R7309:Plcz1	UTSW	6	139,968,882 (GRCm39)	missense	probably damaging	1.00
R7446:Plcz1	UTSW	6	139,959,312 (GRCm39)	missense	possibly damaging	0.63
R7503:Plcz1	UTSW	6	139,936,474 (GRCm39)	missense	probably damaging	1.00
R7634:Plcz1	UTSW	6	139,961,853 (GRCm39)	missense	probably damaging	1.00
R8192:Plcz1	UTSW	6	139,968,986 (GRCm39)	missense	probably damaging	1.00
R8302:Plcz1	UTSW	6	139,974,163 (GRCm39)	missense	probably damaging	1.00
R8679:Plcz1	UTSW	6	139,949,612 (GRCm39)	missense	probably damaging	1.00
R8985:Plcz1	UTSW	6	139,961,903 (GRCm39)	missense	possibly damaging	0.79
R9052:Plcz1	UTSW	6	139,968,905 (GRCm39)	missense	probably damaging	1.00
R9203:Plcz1	UTSW	6	139,953,481 (GRCm39)	nonsense	probably null
R9336:Plcz1	UTSW	6	139,985,446 (GRCm39)	missense	possibly damaging	0.86
R9598:Plcz1	UTSW	6	139,985,484 (GRCm39)	missense	possibly damaging	0.87
Z1176:Plcz1	UTSW	6	139,959,402 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- AAAGGGCATTAGGGCTGATCG -3'
(R):5'- CAGACACACAGTAACATGAGTAAG -3'

Sequencing Primer
(F):5'- CATTAGGGCTGATCGGTAGTATTG -3'
(R):5'- GGCCTAGCCTTGAGTATTTGAAACC -3'

Posted On

2022-11-14