Incidental Mutation 'IGL01089:Plaa'
ID 50879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plaa
Ensembl Gene ENSMUSG00000028577
Gene Name phospholipase A2, activating protein
Synonyms Ufd3, D4Ertd618e
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # IGL01089
Quality Score
Status
Chromosome 4
Chromosomal Location 94455751-94491481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94462284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 531 (V531A)
Ref Sequence ENSEMBL: ENSMUSP00000102724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107107]
AlphaFold P27612
Predicted Effect probably benign
Transcript: ENSMUST00000107107
AA Change: V531A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: V531A

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 unknown
Transcript: ENSMUST00000127656
AA Change: V137A
SMART Domains Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577
AA Change: V137A

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
Actr8 T C 14: 29,710,292 (GRCm39) L353S probably damaging Het
Adgrf2 G A 17: 43,021,049 (GRCm39) P592S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Afap1l2 A C 19: 56,901,843 (GRCm39) probably null Het
Asnsd1 G A 1: 53,387,436 (GRCm39) P64S probably damaging Het
Bmt2 A G 6: 13,663,270 (GRCm39) M76T probably damaging Het
Clca3b A T 3: 144,529,283 (GRCm39) V797D probably benign Het
Cog2 T C 8: 125,271,982 (GRCm39) S499P probably benign Het
Cyp27a1 A T 1: 74,771,097 (GRCm39) Y94F possibly damaging Het
D630045J12Rik A G 6: 38,113,898 (GRCm39) S1765P probably benign Het
Fam149a A G 8: 45,801,564 (GRCm39) L519P possibly damaging Het
Fam171a2 G A 11: 102,328,674 (GRCm39) A695V possibly damaging Het
Fat1 T A 8: 45,470,894 (GRCm39) V1566E probably damaging Het
Flvcr1 T G 1: 190,745,587 (GRCm39) N361H probably damaging Het
Gm1110 T C 9: 26,793,156 (GRCm39) N540S probably benign Het
Katnip A G 7: 125,394,485 (GRCm39) E187G probably damaging Het
Kcns3 T A 12: 11,141,572 (GRCm39) T376S possibly damaging Het
Krt32 A G 11: 99,978,605 (GRCm39) S150P probably benign Het
Liat1 A G 11: 75,894,163 (GRCm39) E180G possibly damaging Het
Lrtm2 C T 6: 119,297,753 (GRCm39) R96Q possibly damaging Het
Mctp1 A G 13: 77,168,917 (GRCm39) E838G probably damaging Het
Mios T C 6: 8,234,363 (GRCm39) probably null Het
Or1j10 A T 2: 36,267,178 (GRCm39) Y130F probably damaging Het
Phldb1 T A 9: 44,619,184 (GRCm39) K167* probably null Het
Pkhd1l1 A G 15: 44,347,265 (GRCm39) probably benign Het
Psmb2 A G 4: 126,577,999 (GRCm39) Y59C probably damaging Het
Ptprg A G 14: 12,215,286 (GRCm38) H1091R probably damaging Het
Rbm44 T A 1: 91,096,419 (GRCm39) V926D possibly damaging Het
Rgma G T 7: 73,059,462 (GRCm39) V189L possibly damaging Het
Sbf2 A T 7: 109,948,169 (GRCm39) I1227K probably damaging Het
Slc8a1 T C 17: 81,955,710 (GRCm39) T443A probably damaging Het
Slc8a1 A G 17: 81,696,310 (GRCm39) V896A probably damaging Het
Taf2 T C 15: 54,879,977 (GRCm39) M1120V probably benign Het
Ugt2b34 C T 5: 87,054,185 (GRCm39) V199I probably benign Het
Unc5c C A 3: 141,523,963 (GRCm39) probably benign Het
Usp37 G A 1: 74,532,205 (GRCm39) R63* probably null Het
Other mutations in Plaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Plaa APN 4 94,470,844 (GRCm39) missense probably benign 0.00
IGL01695:Plaa APN 4 94,462,274 (GRCm39) nonsense probably null
IGL01984:Plaa APN 4 94,459,922 (GRCm39) splice site probably null
IGL02430:Plaa APN 4 94,470,810 (GRCm39) missense probably benign 0.09
IGL02552:Plaa APN 4 94,470,717 (GRCm39) critical splice donor site probably null
IGL03238:Plaa APN 4 94,472,133 (GRCm39) missense probably benign 0.23
R1353:Plaa UTSW 4 94,459,926 (GRCm39) missense possibly damaging 0.69
R2937:Plaa UTSW 4 94,457,696 (GRCm39) missense probably damaging 1.00
R3076:Plaa UTSW 4 94,458,042 (GRCm39) missense probably benign
R3078:Plaa UTSW 4 94,458,042 (GRCm39) missense probably benign
R3801:Plaa UTSW 4 94,458,125 (GRCm39) missense probably damaging 1.00
R3802:Plaa UTSW 4 94,458,125 (GRCm39) missense probably damaging 1.00
R3804:Plaa UTSW 4 94,458,125 (GRCm39) missense probably damaging 1.00
R3836:Plaa UTSW 4 94,475,159 (GRCm39) critical splice acceptor site probably null
R4767:Plaa UTSW 4 94,474,495 (GRCm39) unclassified probably benign
R4855:Plaa UTSW 4 94,474,645 (GRCm39) missense probably damaging 1.00
R4978:Plaa UTSW 4 94,478,169 (GRCm39) missense possibly damaging 0.81
R5284:Plaa UTSW 4 94,457,874 (GRCm39) missense probably benign 0.03
R5557:Plaa UTSW 4 94,472,244 (GRCm39) splice site probably null
R5834:Plaa UTSW 4 94,471,706 (GRCm39) missense probably damaging 1.00
R5856:Plaa UTSW 4 94,471,724 (GRCm39) missense probably benign 0.00
R6053:Plaa UTSW 4 94,478,121 (GRCm39) missense probably benign 0.00
R6145:Plaa UTSW 4 94,472,229 (GRCm39) missense probably damaging 0.99
R6646:Plaa UTSW 4 94,478,215 (GRCm39) missense probably benign
R7008:Plaa UTSW 4 94,457,586 (GRCm39) makesense probably null
R7058:Plaa UTSW 4 94,458,060 (GRCm39) nonsense probably null
R7078:Plaa UTSW 4 94,462,288 (GRCm39) missense probably benign
R7120:Plaa UTSW 4 94,470,919 (GRCm39) missense possibly damaging 0.91
R7651:Plaa UTSW 4 94,470,876 (GRCm39) missense probably damaging 1.00
R8163:Plaa UTSW 4 94,457,640 (GRCm39) missense probably benign 0.01
R8188:Plaa UTSW 4 94,474,586 (GRCm39) missense probably damaging 1.00
R8354:Plaa UTSW 4 94,457,714 (GRCm39) missense probably damaging 1.00
R8454:Plaa UTSW 4 94,457,714 (GRCm39) missense probably damaging 1.00
R8838:Plaa UTSW 4 94,471,791 (GRCm39) missense probably benign 0.37
R9457:Plaa UTSW 4 94,475,120 (GRCm39) missense possibly damaging 0.65
R9730:Plaa UTSW 4 94,466,660 (GRCm39) missense probably benign
Posted On 2013-06-21