Incidental Mutation 'IGL01695:Plaa'
ID 104236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plaa
Ensembl Gene ENSMUSG00000028577
Gene Name phospholipase A2, activating protein
Synonyms D4Ertd618e, Ufd3
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # IGL01695
Quality Score
Status
Chromosome 4
Chromosomal Location 94567514-94603244 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 94574037 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 140 (Y140*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107107]
AlphaFold P27612
Predicted Effect probably null
Transcript: ENSMUST00000107107
AA Change: Y534*
SMART Domains Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: Y534*

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
AA Change: Y140*
SMART Domains Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577
AA Change: Y140*

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G 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
IGL01984:Plaa APN 4 94571685 splice site 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
R9457:Plaa UTSW 4 94586883 missense possibly damaging 0.65
R9730:Plaa UTSW 4 94578423 missense probably benign
Posted On 2014-01-21