Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Plcz1'

23564

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0200 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

139935399-139987183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139936459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 590 (R590H)

Ref Sequence

ENSEMBL: ENSMUSP00000032356 (fasta)

Gene Model

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

AlphaFold

Q8K4D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032356
AA Change: R590H

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

SMART Domains

Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: R590H

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: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,480,463 (GRCm39)	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pam	C	T	1: 97,822,126 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc12a4	T	C	8: 106,678,249 (GRCm39)	R315G	probably benign	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Tgm6	T	A	2: 129,994,865 (GRCm39)		probably null	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	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
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
R9779:Plcz1	UTSW	6	139,947,882 (GRCm39)	missense	possibly damaging	0.80
Z1176:Plcz1	UTSW	6	139,959,402 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GTTTCCCTTAGCAGCCCAGCATAC -3'
(R):5'- AGTTTCCTGGCTTGTGAACCCTG -3'

Sequencing Primer
(F):5'- CAGAAAGAACATGTCTCTGCTG -3'
(R):5'- TATAACATCTTCCACTCACTGACTAC -3'

Posted On

2013-04-16