Incidental Mutation 'IGL01746:Plcl2'
ID153029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcl2
Ensembl Gene ENSMUSG00000038910
Gene Namephospholipase C-like 2
SynonymsPRIP-2, Plce2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL01746
Quality Score
Status
Chromosome17
Chromosomal Location50509547-50688493 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50607696 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 578 (S578T)
Ref Sequence ENSEMBL: ENSMUSP00000046584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043938]
Predicted Effect probably benign
Transcript: ENSMUST00000043938
AA Change: S578T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: S578T

DomainStartEndE-ValueType
low complexity region 20 49 N/A INTRINSIC
PH 143 254 2.88e-5 SMART
Pfam:EF-hand_like 344 426 3.7e-29 PFAM
PLCXc 427 571 2.19e-84 SMART
PLCYc 619 735 4.37e-61 SMART
C2 756 862 3.45e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,004,912 M1187V possibly damaging Het
Ctsm T C 13: 61,539,816 E76G probably benign Het
Ctsm T C 13: 61,538,903 probably benign Het
Egfl8 T C 17: 34,614,916 T63A probably damaging Het
Fat4 T A 3: 38,991,731 C3966* probably null Het
Fsd2 T C 7: 81,553,007 T275A probably benign Het
Fyb2 A T 4: 104,945,207 H102L probably benign Het
Galnt9 T C 5: 110,588,322 I168T probably damaging Het
Hc A G 2: 35,057,326 Y59H probably damaging Het
Khnyn T C 14: 55,886,982 V231A probably benign Het
Larp4b T A 13: 9,158,124 V378E probably damaging Het
Lbx1 A T 19: 45,233,775 S270T possibly damaging Het
Mcm6 G A 1: 128,353,524 R101* probably null Het
Mcph1 T C 8: 18,671,127 L657P probably damaging Het
Ndst2 G T 14: 20,729,414 P253T probably benign Het
Nek4 G A 14: 30,977,584 probably null Het
Nsd1 T A 13: 55,276,515 probably null Het
Oc90 A G 15: 65,889,401 probably benign Het
Ranbp3l T A 15: 9,063,087 C325* probably null Het
Rps19bp1 T C 15: 80,260,997 Y140C probably damaging Het
Sec62 T A 3: 30,814,246 I208K probably benign Het
Slc25a48 T A 13: 56,470,353 F268I probably damaging Het
Slc35e3 T C 10: 117,744,902 T166A possibly damaging Het
Tmem253 G A 14: 52,017,157 W23* probably null Het
Tmem97 T C 11: 78,542,760 Y103C probably damaging Het
Traf6 A G 2: 101,696,892 E329G possibly damaging Het
Ttll12 A G 15: 83,578,676 F530L probably damaging Het
Ugt3a2 C T 15: 9,361,668 P177S probably damaging Het
Veph1 T C 3: 66,158,087 T520A probably benign Het
Vmn2r98 T A 17: 19,066,451 Y404N probably damaging Het
Other mutations in Plcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Plcl2 APN 17 50606920 missense probably benign 0.01
IGL02227:Plcl2 APN 17 50606397 missense probably damaging 0.97
IGL02232:Plcl2 APN 17 50606641 missense possibly damaging 0.66
IGL02878:Plcl2 APN 17 50607355 missense probably damaging 1.00
IGL02985:Plcl2 APN 17 50687814 nonsense probably null
Parece UTSW 17 50607846 missense probably damaging 0.99
verdad UTSW 17 50608081 missense probably damaging 1.00
IGL03014:Plcl2 UTSW 17 50611001 missense possibly damaging 0.65
R0110:Plcl2 UTSW 17 50607982 missense probably damaging 1.00
R0190:Plcl2 UTSW 17 50607643 missense probably benign
R0280:Plcl2 UTSW 17 50607034 missense probably damaging 1.00
R0414:Plcl2 UTSW 17 50607955 missense possibly damaging 0.90
R0450:Plcl2 UTSW 17 50607982 missense probably damaging 1.00
R0760:Plcl2 UTSW 17 50608774 missense possibly damaging 0.82
R1134:Plcl2 UTSW 17 50608110 missense probably benign
R1168:Plcl2 UTSW 17 50607072 missense possibly damaging 0.49
R1381:Plcl2 UTSW 17 50607729 missense probably damaging 0.99
R1748:Plcl2 UTSW 17 50606798 missense probably benign
R1856:Plcl2 UTSW 17 50607850 missense probably benign 0.13
R1958:Plcl2 UTSW 17 50608081 missense probably damaging 1.00
R2016:Plcl2 UTSW 17 50606694 missense probably damaging 1.00
R2057:Plcl2 UTSW 17 50668111 splice site probably null
R2077:Plcl2 UTSW 17 50606829 missense probably benign
R2247:Plcl2 UTSW 17 50606845 missense probably damaging 0.96
R3083:Plcl2 UTSW 17 50687744 missense probably benign 0.06
R4153:Plcl2 UTSW 17 50606361 nonsense probably null
R4574:Plcl2 UTSW 17 50607846 missense probably damaging 0.99
R4870:Plcl2 UTSW 17 50607226 missense possibly damaging 0.46
R5030:Plcl2 UTSW 17 50607319 missense possibly damaging 0.92
R5330:Plcl2 UTSW 17 50509848 missense probably benign 0.01
R5331:Plcl2 UTSW 17 50509848 missense probably benign 0.01
R5503:Plcl2 UTSW 17 50509929 missense probably benign 0.00
R5920:Plcl2 UTSW 17 50608675 missense probably damaging 0.99
R6238:Plcl2 UTSW 17 50606845 missense probably damaging 0.96
R6378:Plcl2 UTSW 17 50668160 intron probably null
R6603:Plcl2 UTSW 17 50607117 missense probably benign 0.03
R6633:Plcl2 UTSW 17 50640140 missense probably benign 0.00
R7113:Plcl2 UTSW 17 50606464 missense probably damaging 1.00
R7466:Plcl2 UTSW 17 50608468 missense probably damaging 1.00
R7665:Plcl2 UTSW 17 50607157 missense probably benign 0.00
X0026:Plcl2 UTSW 17 50607560 missense probably benign 0.03
Z1088:Plcl2 UTSW 17 50606992 missense probably damaging 1.00
Z1176:Plcl2 UTSW 17 50608456 missense probably damaging 1.00
Posted On2014-02-04