Incidental Mutation 'IGL01984:Plaa'
ID181848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plaa
Ensembl Gene ENSMUSG00000028577
Gene Namephospholipase A2, activating protein
SynonymsD4Ertd618e, Ufd3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.935) question?
Stock #IGL01984
Quality Score
Status
Chromosome4
Chromosomal Location94567514-94603244 bp(-) (GRCm38)
Type of Mutationsplice site (2 bp from exon)
DNA Base Change (assembly) A to G at 94571685 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000107107]
Predicted Effect probably null
Transcript: ENSMUST00000107107
SMART Domains Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577

DomainStartEndE-ValueType
WD40 7 47 4.46e-1 SMART
WD40 54 98 8.49e-3 SMART
WD40 101 139 1.72e-3 SMART
WD40 140 179 8.81e-10 SMART
WD40 180 218 3.22e-3 SMART
WD40 220 259 7.33e-7 SMART
WD40 260 298 6.79e-2 SMART
Pfam:PFU 345 459 2.3e-43 PFAM
Pfam:PUL 535 789 1.4e-69 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127656
SMART Domains Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577

DomainStartEndE-ValueType
Pfam:PFU 1 89 2.6e-34 PFAM
Pfam:PUL 142 214 7.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135696
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous KO is embryonic lethal. A hypomorphic homozygous point mutation affects neuromuscular junctions and Purkinje cell development, causing early-onset neurodysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 90,063,230 L24F probably benign Het
Adamts16 T C 13: 70,787,147 D442G probably damaging Het
Ankmy1 T C 1: 92,883,765 T634A probably damaging Het
Anxa3 A T 5: 96,834,771 probably benign Het
Ccnh T C 13: 85,206,151 L202P probably damaging Het
Clcn3 A T 8: 60,929,580 S325T probably damaging Het
Clec2d A T 6: 129,184,229 E96D possibly damaging Het
Csn1s1 A T 5: 87,676,510 probably benign Het
Dcun1d5 T A 9: 7,205,307 Y189N possibly damaging Het
Dnah7a T C 1: 53,702,015 probably null Het
Erg T G 16: 95,409,927 D15A probably damaging Het
Gm11639 T A 11: 104,738,308 D937E probably benign Het
Gm17018 C T 19: 45,577,030 H148Y probably benign Het
Gm21759 T A 5: 8,180,547 probably benign Het
Heatr5b C T 17: 78,796,497 R1083Q possibly damaging Het
Ints3 A G 3: 90,392,226 S1012P possibly damaging Het
Klhl3 C T 13: 58,011,243 probably benign Het
Lama4 T A 10: 39,075,529 probably null Het
Magi1 A T 6: 93,708,174 V740D probably damaging Het
Nme8 C A 13: 19,688,980 V165L probably damaging Het
Odf2l G T 3: 145,139,829 E5* probably null Het
Olfr115 T C 17: 37,623,661 probably benign Het
Olfr1297 A G 2: 111,621,582 L164S probably benign Het
Olfr683 A T 7: 105,143,716 D192E probably benign Het
Pcnx4 T C 12: 72,574,409 V1001A probably benign Het
Prkdc G A 16: 15,708,779 A1305T probably benign Het
Rnps1 T C 17: 24,424,397 probably benign Het
St8sia5 T C 18: 77,248,461 F197L probably benign Het
Sult3a1 G T 10: 33,879,209 G257* probably null Het
Svep1 A C 4: 58,068,877 Y2970D possibly damaging Het
Tns3 G T 11: 8,548,992 Y30* probably null Het
Ubr1 G T 2: 120,921,386 P791T probably damaging Het
Zfp592 T C 7: 81,038,644 V1039A probably benign Het
Other mutations in Plaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Plaa APN 4 94582607 missense probably benign 0.00
IGL01089:Plaa APN 4 94574047 missense probably benign
IGL01695:Plaa APN 4 94574037 nonsense probably null
IGL02430:Plaa APN 4 94582573 missense probably benign 0.09
IGL02552:Plaa APN 4 94582480 critical splice donor site probably null
IGL03238:Plaa APN 4 94583896 missense probably benign 0.23
R1353:Plaa UTSW 4 94571689 missense possibly damaging 0.69
R2937:Plaa UTSW 4 94569459 missense probably damaging 1.00
R3076:Plaa UTSW 4 94569805 missense probably benign
R3078:Plaa UTSW 4 94569805 missense probably benign
R3801:Plaa UTSW 4 94569888 missense probably damaging 1.00
R3802:Plaa UTSW 4 94569888 missense probably damaging 1.00
R3804:Plaa UTSW 4 94569888 missense probably damaging 1.00
R3836:Plaa UTSW 4 94586922 critical splice acceptor site probably null
R4767:Plaa UTSW 4 94586258 unclassified probably benign
R4855:Plaa UTSW 4 94586408 missense probably damaging 1.00
R4978:Plaa UTSW 4 94589932 missense possibly damaging 0.81
R5284:Plaa UTSW 4 94569637 missense probably benign 0.03
R5557:Plaa UTSW 4 94584007 splice site probably null
R5834:Plaa UTSW 4 94583469 missense probably damaging 1.00
R5856:Plaa UTSW 4 94583487 missense probably benign 0.00
R6053:Plaa UTSW 4 94589884 missense probably benign 0.00
R6145:Plaa UTSW 4 94583992 missense probably damaging 0.99
R6646:Plaa UTSW 4 94589978 missense probably benign
R7008:Plaa UTSW 4 94569349 makesense probably null
R7058:Plaa UTSW 4 94569823 nonsense probably null
R7078:Plaa UTSW 4 94574051 missense probably benign
R7120:Plaa UTSW 4 94582682 missense possibly damaging 0.91
R7651:Plaa UTSW 4 94582639 missense probably damaging 1.00
R8163:Plaa UTSW 4 94569403 missense probably benign 0.01
R8188:Plaa UTSW 4 94586349 missense probably damaging 1.00
R8354:Plaa UTSW 4 94569477 missense probably damaging 1.00
R8454:Plaa UTSW 4 94569477 missense probably damaging 1.00
R8838:Plaa UTSW 4 94583554 missense probably benign 0.37
Posted On2014-05-07