Incidental Mutation 'R5752:Plcd4'
ID 462614
Institutional Source Beutler Lab
Gene Symbol Plcd4
Ensembl Gene ENSMUSG00000026173
Gene Name phospholipase C, delta 4
Synonyms 4921507K24Rik
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74581175-74605137 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 74587131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000113750] [ENSMUST00000141412] [ENSMUST00000152707] [ENSMUST00000189257]
AlphaFold Q8K3R3
Predicted Effect probably null
Transcript: ENSMUST00000027362
SMART Domains Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 538 654 1.26e-75 SMART
C2 673 779 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000067916
SMART Domains Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000067916
SMART Domains Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113745
SMART Domains Protein: ENSMUSP00000109374
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113747
SMART Domains Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113747
SMART Domains Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113749
SMART Domains Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 538 654 1.26e-75 SMART
C2 673 779 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113749
SMART Domains Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 538 654 1.26e-75 SMART
C2 673 779 5.68e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113750
SMART Domains Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 7.16e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113750
SMART Domains Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 7.16e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141412
SMART Domains Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152707
SMART Domains Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185411
Predicted Effect probably benign
Transcript: ENSMUST00000189257
SMART Domains Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364

DomainStartEndE-ValueType
PDB:3U12|B 4 125 2e-71 PDB
low complexity region 182 200 N/A INTRINSIC
Pfam:UCH_1 341 608 4.3e-19 PFAM
low complexity region 628 646 N/A INTRINSIC
UIM 704 723 1.33e1 SMART
UIM 806 825 1.04e-1 SMART
UIM 828 847 2.11e-2 SMART
low complexity region 893 909 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly damaging Het
Other mutations in Plcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Plcd4 APN 1 74,591,274 (GRCm39) missense probably damaging 1.00
IGL01806:Plcd4 APN 1 74,591,192 (GRCm39) missense probably benign 0.42
IGL02537:Plcd4 APN 1 74,595,209 (GRCm39) missense possibly damaging 0.55
IGL02574:Plcd4 APN 1 74,603,539 (GRCm39) missense probably damaging 1.00
IGL02812:Plcd4 APN 1 74,596,967 (GRCm39) missense probably damaging 1.00
IGL03350:Plcd4 APN 1 74,588,460 (GRCm39) missense probably damaging 1.00
R0415:Plcd4 UTSW 1 74,591,256 (GRCm39) missense probably damaging 0.99
R1699:Plcd4 UTSW 1 74,587,394 (GRCm39) missense probably benign 0.01
R1852:Plcd4 UTSW 1 74,588,520 (GRCm39) missense possibly damaging 0.92
R2120:Plcd4 UTSW 1 74,603,584 (GRCm39) missense probably benign 0.00
R2125:Plcd4 UTSW 1 74,604,311 (GRCm39) missense probably damaging 1.00
R3023:Plcd4 UTSW 1 74,587,351 (GRCm39) missense probably damaging 1.00
R3157:Plcd4 UTSW 1 74,590,313 (GRCm39) splice site probably null
R4535:Plcd4 UTSW 1 74,602,627 (GRCm39) missense probably damaging 1.00
R4581:Plcd4 UTSW 1 74,587,383 (GRCm39) missense probably damaging 1.00
R4863:Plcd4 UTSW 1 74,604,961 (GRCm39) splice site probably null
R4911:Plcd4 UTSW 1 74,603,572 (GRCm39) missense possibly damaging 0.78
R4987:Plcd4 UTSW 1 74,587,118 (GRCm39) unclassified probably benign
R5102:Plcd4 UTSW 1 74,604,313 (GRCm39) missense probably damaging 1.00
R5887:Plcd4 UTSW 1 74,590,249 (GRCm39) missense probably damaging 1.00
R6318:Plcd4 UTSW 1 74,602,753 (GRCm39) missense possibly damaging 0.61
R6648:Plcd4 UTSW 1 74,591,172 (GRCm39) missense probably benign 0.00
R6796:Plcd4 UTSW 1 74,601,229 (GRCm39) missense probably benign 0.03
R6920:Plcd4 UTSW 1 74,604,994 (GRCm39) unclassified probably benign
R7047:Plcd4 UTSW 1 74,591,148 (GRCm39) missense possibly damaging 0.87
R7121:Plcd4 UTSW 1 74,604,524 (GRCm39) missense probably benign
R7134:Plcd4 UTSW 1 74,593,662 (GRCm39) missense probably benign 0.05
R7270:Plcd4 UTSW 1 74,593,838 (GRCm39) missense possibly damaging 0.89
R7344:Plcd4 UTSW 1 74,593,811 (GRCm39) missense probably damaging 1.00
R7363:Plcd4 UTSW 1 74,590,231 (GRCm39) missense probably null 0.99
R7749:Plcd4 UTSW 1 74,604,292 (GRCm39) missense possibly damaging 0.60
R7980:Plcd4 UTSW 1 74,604,464 (GRCm39) missense probably benign 0.00
R8240:Plcd4 UTSW 1 74,593,660 (GRCm39) missense probably benign 0.38
R8762:Plcd4 UTSW 1 74,591,213 (GRCm39) missense possibly damaging 0.71
R9000:Plcd4 UTSW 1 74,601,024 (GRCm39) nonsense probably null
R9114:Plcd4 UTSW 1 74,591,307 (GRCm39) missense possibly damaging 0.60
R9162:Plcd4 UTSW 1 74,601,362 (GRCm39) missense probably benign 0.00
R9252:Plcd4 UTSW 1 74,588,359 (GRCm39) missense probably damaging 0.97
R9579:Plcd4 UTSW 1 74,596,948 (GRCm39) missense probably benign 0.00
Z1176:Plcd4 UTSW 1 74,596,951 (GRCm39) missense probably damaging 1.00
Z1176:Plcd4 UTSW 1 74,587,285 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTTAAACCTCAGGGTCAGCAAAC -3'
(R):5'- TCACCTTGCGCATCATTGTG -3'

Sequencing Primer
(F):5'- CTCAGGGTCAGCAAACTCAGAAATG -3'
(R):5'- ATCATTGTGCCTTCTTGCATCAG -3'
Posted On 2017-03-01