Incidental Mutation 'IGL00489:Plcd4'
ID 7445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcd4
Ensembl Gene ENSMUSG00000026173
Gene Name phospholipase C, delta 4
Synonyms 4921507K24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00489
Quality Score
Status
Chromosome 1
Chromosomal Location 74581175-74605137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74591274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 223 (T223N)
Ref Sequence ENSEMBL: ENSMUSP00000121732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000152707] [ENSMUST00000141412]
AlphaFold Q8K3R3
Predicted Effect probably damaging
Transcript: ENSMUST00000027362
AA Change: T223N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000067916
AA Change: T223N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000113747
AA Change: T223N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000113749
AA Change: T223N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000113750
AA Change: T223N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000152707
AA Change: T223N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: T223N

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 damaging
Transcript: ENSMUST00000141412
AA Change: T223N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: T223N

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,316,147 (GRCm39) probably null Het
Alcam T A 16: 52,115,380 (GRCm39) probably benign Het
Aspm C A 1: 139,406,429 (GRCm39) A1772E probably damaging Het
Bag6 T A 17: 35,363,627 (GRCm39) D770E probably damaging Het
Baz2b A T 2: 59,788,019 (GRCm39) Y724* probably null Het
Ccdc178 A T 18: 21,977,968 (GRCm39) I833N probably benign Het
Ccdc28a C A 10: 18,106,261 (GRCm39) V22F possibly damaging Het
Cmya5 T C 13: 93,229,628 (GRCm39) N1820S probably benign Het
Fancm T G 12: 65,152,967 (GRCm39) I1141S probably benign Het
Fgfrl1 G A 5: 108,853,753 (GRCm39) G287S probably damaging Het
Galntl6 G A 8: 58,310,574 (GRCm39) P376S probably damaging Het
Gm21985 A G 2: 112,168,342 (GRCm39) probably benign Het
Hck A G 2: 152,992,939 (GRCm39) E482G possibly damaging Het
Kcna3 C T 3: 106,944,472 (GRCm39) S245L probably benign Het
Mcc T C 18: 44,582,283 (GRCm39) M798V possibly damaging Het
Nlrp9c T C 7: 26,084,013 (GRCm39) Y522C probably benign Het
Ofcc1 C A 13: 40,433,967 (GRCm39) S46I probably damaging Het
Pdgfra A G 5: 75,324,340 (GRCm39) D65G probably benign Het
Phf24 A C 4: 42,933,905 (GRCm39) T59P possibly damaging Het
Pik3cg A G 12: 32,255,148 (GRCm39) Y280H probably damaging Het
Pkd1l1 C A 11: 8,784,773 (GRCm39) probably null Het
Polr1b G A 2: 128,967,829 (GRCm39) G1074D probably damaging Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Prkdc T A 16: 15,617,790 (GRCm39) M3207K possibly damaging Het
Rb1cc1 T C 1: 6,319,730 (GRCm39) S1050P probably damaging Het
Sf3b3 G A 8: 111,540,383 (GRCm39) R1013* probably null Het
Svep1 T C 4: 58,068,988 (GRCm39) T2933A possibly damaging Het
Vwf A G 6: 125,635,835 (GRCm39) R289G unknown Het
Zfp263 T C 16: 3,563,710 (GRCm39) S155P probably benign Het
Other mutations in Plcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5752:Plcd4 UTSW 1 74,587,131 (GRCm39) splice site probably null
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
Posted On 2012-04-20