Incidental Mutation 'R5401:Plcz1'
ID 429987
Institutional Source Beutler Lab
Gene Symbol Plcz1
Ensembl Gene ENSMUSG00000030230
Gene Name phospholipase C, zeta 1
Synonyms 1700041H07Rik
MMRRC Submission 042972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5401 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139935399-139987183 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 139938778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000032356] [ENSMUST00000129986] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000137148]
AlphaFold Q8K4D7
Predicted Effect probably null
Transcript: ENSMUST00000032356
SMART Domains Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000032356
SMART Domains Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230

DomainStartEndE-ValueType
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: ENSMUST00000129986
Predicted Effect probably benign
Transcript: ENSMUST00000137148
Predicted Effect probably benign
Transcript: ENSMUST00000137148
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (66/68)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A G 9: 39,962,338 (GRCm39) noncoding transcript Het
1700025H01Rik G T 16: 30,018,801 (GRCm39) noncoding transcript Het
9330159F19Rik T C 10: 29,101,136 (GRCm39) V503A probably benign Het
Acacb A G 5: 114,347,914 (GRCm39) N995S possibly damaging Het
Anapc4 A G 5: 53,020,991 (GRCm39) K630R probably benign Het
Ankrd13a A C 5: 114,930,234 (GRCm39) Q206H probably damaging Het
Ano10 A T 9: 122,090,356 (GRCm39) L319Q probably damaging Het
Camkk2 T A 5: 122,884,398 (GRCm39) D341V probably damaging Het
Ccdc88a A G 11: 29,413,279 (GRCm39) I606V probably benign Het
Cdv3 G T 9: 103,242,316 (GRCm39) probably benign Het
Cep97 A G 16: 55,745,315 (GRCm39) V155A probably benign Het
Cmya5 T C 13: 93,228,476 (GRCm39) E2204G probably damaging Het
Cracr2b A G 7: 141,046,136 (GRCm39) *395W probably null Het
Defa27 A G 8: 21,805,710 (GRCm39) E50G possibly damaging Het
Dnah7a A G 1: 53,670,812 (GRCm39) I480T probably benign Het
Ep400 C A 5: 110,831,037 (GRCm39) D2210Y unknown Het
Fam170a T A 18: 50,413,618 (GRCm39) S28T probably benign Het
Fancc C A 13: 63,550,767 (GRCm39) K18N probably damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fndc8 T G 11: 82,788,676 (GRCm39) S169A possibly damaging Het
Get3 A T 8: 85,745,173 (GRCm39) I298N possibly damaging Het
Herc1 T C 9: 66,409,338 (GRCm39) Y4688H probably damaging Het
Ighv11-2 A T 12: 114,011,959 (GRCm39) D85E possibly damaging Het
Kat14 T C 2: 144,231,180 (GRCm39) F196L possibly damaging Het
Kctd19 C T 8: 106,109,617 (GRCm39) V942I probably benign Het
Llgl1 A G 11: 60,597,297 (GRCm39) S249G probably benign Het
Map1a T C 2: 121,130,153 (GRCm39) V323A probably damaging Het
Or4m1 C A 14: 50,557,566 (GRCm39) C242F probably damaging Het
Phf21a C A 2: 92,182,097 (GRCm39) T342K possibly damaging Het
Piezo2 T A 18: 63,217,811 (GRCm39) D1122V possibly damaging Het
Pklr A G 3: 89,049,173 (GRCm39) Y173C probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prom1 A T 5: 44,158,147 (GRCm39) Y845N probably damaging Het
Qng1 C A 13: 58,530,405 (GRCm39) A202S probably benign Het
Ret A T 6: 118,158,936 (GRCm39) S159T probably benign Het
Rfx1 C A 8: 84,793,005 (GRCm39) probably null Het
Scp2 A T 4: 108,001,976 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Smarcc2 C A 10: 128,301,373 (GRCm39) D210E probably damaging Het
Sptlc3 T C 2: 139,478,643 (GRCm39) L534P possibly damaging Het
Srrm1 A G 4: 135,051,380 (GRCm39) probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sugct T A 13: 17,032,455 (GRCm39) Q432H probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tsc1 C A 2: 28,576,920 (GRCm39) S1073* probably null Het
Vmn1r72 T C 7: 11,403,843 (GRCm39) S202G probably damaging Het
Vmn2r55 A G 7: 12,385,871 (GRCm39) V703A probably benign Het
Vmn2r67 A T 7: 84,785,765 (GRCm39) Y747N probably damaging Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G probably benign Het
Zswim2 C T 2: 83,755,589 (GRCm39) G104E possibly damaging Het
Other mutations in Plcz1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAATTTCCTCAGAGACATTCACAC -3'
(R):5'- CAGTGCTTTAGACAGATTCTTGTTC -3'

Sequencing Primer
(F):5'- TTTCCTCAGAGACATTCACACAAAAC -3'
(R):5'- CTGGTTTGCCAGCTTCA -3'
Posted On 2016-09-06