Incidental Mutation 'IGL02634:Plcd3'
ID301440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcd3
Ensembl Gene ENSMUSG00000020937
Gene Namephospholipase C, delta 3
Synonyms2610205J15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.608) question?
Stock #IGL02634
Quality Score
Status
Chromosome11
Chromosomal Location103070304-103101658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103077827 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 31 (S31F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103077]
Predicted Effect probably damaging
Transcript: ENSMUST00000103077
AA Change: S346F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: S346F

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 23 38 N/A INTRINSIC
PH 61 170 4.07e-5 SMART
Pfam:EF-hand_10 197 246 1.8e-27 PFAM
Pfam:EF-hand_like 251 332 2.6e-24 PFAM
PLCXc 333 478 7.75e-85 SMART
low complexity region 495 512 N/A INTRINSIC
PLCYc 524 640 3.96e-50 SMART
C2 657 763 1.05e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128650
AA Change: S31F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: S31F

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
PLCXc 19 164 7.75e-85 SMART
coiled coil region 172 206 N/A INTRINSIC
PLCYc 210 326 3.96e-50 SMART
C2 343 449 1.05e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
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 phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik A G 9: 51,291,755 L33P possibly damaging Het
Adamts2 T A 11: 50,792,721 C943* probably null Het
Arhgef28 A T 13: 98,051,058 V243D probably benign Het
Arrdc3 T A 13: 80,890,765 I62K probably damaging Het
Atm T C 9: 53,516,563 T416A probably benign Het
AW209491 A G 13: 14,637,683 T374A probably damaging Het
Brcc3 T C X: 75,436,098 probably benign Het
Ccdc181 T G 1: 164,279,945 S66A probably benign Het
Ccdc62 T C 5: 123,954,257 I435T probably benign Het
Cdc14b C A 13: 64,216,303 probably benign Het
Chst5 A G 8: 111,890,845 S48P probably damaging Het
Ciita C A 16: 10,508,713 S253Y probably damaging Het
Dock7 C T 4: 98,989,296 R1005H probably damaging Het
Dsg4 A T 18: 20,458,580 I459F probably benign Het
Enpep T C 3: 129,309,857 E361G probably damaging Het
Fblim1 T C 4: 141,583,111 D280G probably benign Het
Fignl1 G A 11: 11,802,756 R100* probably null Het
Ggcx G T 6: 72,418,303 A126S probably damaging Het
Hdgfl1 A G 13: 26,769,803 S96P probably benign Het
Iqgap2 G A 13: 95,628,114 L1541F probably damaging Het
Itga8 T C 2: 12,140,478 E888G possibly damaging Het
Kank4 T A 4: 98,778,827 Q461L probably benign Het
Klhl20 C T 1: 161,098,365 V438M probably damaging Het
Klrc3 A T 6: 129,643,208 S27R probably damaging Het
Ksr2 T C 5: 117,763,329 probably benign Het
Lrrc37a C T 11: 103,499,112 S1829N probably benign Het
Obscn A G 11: 59,054,785 L4585P probably damaging Het
Olfr480 T C 7: 108,066,771 N9S probably benign Het
Palm3 T G 8: 84,028,865 S335R probably damaging Het
Pcsk7 C T 9: 45,919,262 A446V possibly damaging Het
Penk A G 4: 4,134,065 L194P possibly damaging Het
Pkhd1l1 T C 15: 44,539,667 F2255S probably damaging Het
Ppp6r2 C T 15: 89,275,477 Q456* probably null Het
Rbbp8nl T C 2: 180,280,895 D235G probably benign Het
Ror1 T A 4: 100,426,110 N457K probably benign Het
Rpgrip1l C A 8: 91,225,344 probably benign Het
Sdk1 T C 5: 141,610,032 F148L probably benign Het
Slc45a2 A T 15: 11,023,354 H348L probably benign Het
Smg8 C T 11: 87,086,672 A28T probably benign Het
Snx14 A G 9: 88,403,303 I436T probably damaging Het
Synj2 G A 17: 6,029,760 R1088H probably damaging Het
Tubb6 T C 18: 67,402,296 Y422H probably damaging Het
Unc13a T A 8: 71,655,701 I503F probably benign Het
Unc13d A G 11: 116,070,556 probably benign Het
Zp1 T C 19: 10,919,507 probably benign Het
Other mutations in Plcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Plcd3 APN 11 103077870 missense probably benign 0.16
IGL01906:Plcd3 APN 11 103076856 missense probably damaging 1.00
IGL02325:Plcd3 APN 11 103080621 nonsense probably null
IGL02852:Plcd3 APN 11 103073805 missense probably damaging 1.00
IGL03025:Plcd3 APN 11 103074898 missense probably benign 0.24
IGL02837:Plcd3 UTSW 11 103071103 missense possibly damaging 0.92
IGL02988:Plcd3 UTSW 11 103076742 missense probably benign
R0055:Plcd3 UTSW 11 103077585 missense probably damaging 1.00
R0055:Plcd3 UTSW 11 103077585 missense probably damaging 1.00
R0062:Plcd3 UTSW 11 103074894 missense probably benign
R0452:Plcd3 UTSW 11 103071259 unclassified probably benign
R0529:Plcd3 UTSW 11 103080187 missense probably benign 0.00
R0556:Plcd3 UTSW 11 103077806 missense probably damaging 1.00
R1463:Plcd3 UTSW 11 103078373 missense probably damaging 1.00
R1752:Plcd3 UTSW 11 103080259 missense probably benign 0.01
R2157:Plcd3 UTSW 11 103071148 missense probably benign
R2519:Plcd3 UTSW 11 103080400 missense possibly damaging 0.80
R3809:Plcd3 UTSW 11 103101383 missense probably null 0.03
R4167:Plcd3 UTSW 11 103078464 missense probably damaging 0.98
R5100:Plcd3 UTSW 11 103078349 missense probably benign
R5387:Plcd3 UTSW 11 103078455 missense probably damaging 1.00
R5589:Plcd3 UTSW 11 103077803 missense probably benign 0.01
R5700:Plcd3 UTSW 11 103073763 missense probably benign 0.00
R5754:Plcd3 UTSW 11 103073766 missense possibly damaging 0.67
R5936:Plcd3 UTSW 11 103078347 missense probably damaging 1.00
R6059:Plcd3 UTSW 11 103080401 missense possibly damaging 0.80
R6102:Plcd3 UTSW 11 103080644 missense probably damaging 0.99
R6480:Plcd3 UTSW 11 103074931 missense possibly damaging 0.79
R6481:Plcd3 UTSW 11 103077767 missense probably damaging 1.00
R6566:Plcd3 UTSW 11 103073800 missense probably damaging 1.00
R7098:Plcd3 UTSW 11 103077863 missense probably damaging 1.00
R7165:Plcd3 UTSW 11 103079613 missense probably damaging 1.00
X0023:Plcd3 UTSW 11 103080208 missense probably benign 0.00
Posted On2015-04-16