Incidental Mutation 'IGL02537:Plcd4'
ID 297556
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 # IGL02537
Quality Score
Status
Chromosome 1
Chromosomal Location 74581175-74605137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74595209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 361 (K361R)
Ref Sequence ENSEMBL: ENSMUSP00000121732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000141412] [ENSMUST00000152707]
AlphaFold Q8K3R3
Predicted Effect probably benign
Transcript: ENSMUST00000027362
AA Change: K361R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: K361R

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 benign
Transcript: ENSMUST00000067916
AA Change: K361R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: K361R

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 benign
Transcript: ENSMUST00000113747
AA Change: K361R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: K361R

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 benign
Transcript: ENSMUST00000113749
AA Change: K361R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: K361R

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 benign
Transcript: ENSMUST00000113750
AA Change: K361R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: K361R

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 possibly damaging
Transcript: ENSMUST00000141412
AA Change: K361R

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: K361R

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 possibly damaging
Transcript: ENSMUST00000152707
AA Change: K361R

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: K361R

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: ENSMUST00000189956
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Alx3 T A 3: 107,512,175 (GRCm39) M271K possibly damaging Het
Ank2 T C 3: 126,749,565 (GRCm39) E488G probably damaging Het
Arsk T A 13: 76,223,025 (GRCm39) R191* probably null Het
B230217C12Rik T C 11: 97,733,011 (GRCm39) S111P possibly damaging Het
Bckdhb A G 9: 83,871,194 (GRCm39) I158V probably benign Het
Bub1 G A 2: 127,643,267 (GRCm39) Q1026* probably null Het
C8a A G 4: 104,703,148 (GRCm39) M303T probably damaging Het
Cftr A G 6: 18,274,596 (GRCm39) T905A probably benign Het
Ciao3 C T 17: 25,997,916 (GRCm39) probably benign Het
Col14a1 A T 15: 55,208,310 (GRCm39) K132* probably null Het
Depdc5 T A 5: 33,125,131 (GRCm39) L531Q probably damaging Het
Dzip1 G A 14: 119,146,988 (GRCm39) probably benign Het
F5 C A 1: 164,020,686 (GRCm39) L1054I probably benign Het
Gm4353 A T 7: 115,682,987 (GRCm39) I198N probably damaging Het
Il1a T A 2: 129,150,996 (GRCm39) E9V probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kndc1 T C 7: 139,490,326 (GRCm39) V276A probably benign Het
Or2aj5 A T 16: 19,424,549 (GRCm39) Y290N probably damaging Het
Or4a74 A C 2: 89,439,739 (GRCm39) S236A possibly damaging Het
Or6n2 A T 1: 173,897,020 (GRCm39) D52V possibly damaging Het
Palld T C 8: 62,137,968 (GRCm39) S596G probably benign Het
Pdc A T 1: 150,208,760 (GRCm39) D81V possibly damaging Het
Plekhm1 T A 11: 103,288,018 (GRCm39) D43V probably damaging Het
Prpf31 G T 7: 3,641,750 (GRCm39) G356C probably damaging Het
Rbpj T A 5: 53,799,485 (GRCm39) I100K probably damaging Het
Rufy3 A G 5: 88,788,521 (GRCm39) probably benign Het
Slc40a1 C T 1: 45,950,553 (GRCm39) V300I probably benign Het
Slc6a12 A T 6: 121,337,473 (GRCm39) I386F probably benign Het
Strip1 C T 3: 107,524,210 (GRCm39) R569H possibly damaging Het
Tep1 A T 14: 51,073,570 (GRCm39) D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 (GRCm39) S14P possibly damaging Het
Trav12-1 C A 14: 53,775,980 (GRCm39) C44* probably null Het
Uba1 G A X: 20,544,902 (GRCm39) R693H possibly damaging Het
Ugt2b38 T C 5: 87,569,590 (GRCm39) T246A possibly damaging Het
Usp24 A G 4: 106,249,564 (GRCm39) Y1427C probably damaging Het
Vmn2r78 A T 7: 86,603,496 (GRCm39) Y558F probably damaging Het
Wdr54 A G 6: 83,130,372 (GRCm39) W221R possibly damaging Het
Xpo4 T C 14: 57,831,290 (GRCm39) T773A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp518a T A 19: 40,903,874 (GRCm39) S1268T probably benign Het
Znfx1 T C 2: 166,898,087 (GRCm39) D279G probably benign 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
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 2015-04-16