Incidental Mutation 'R6646:Plaa'
ID 527970
Institutional Source Beutler Lab
Gene Symbol Plaa
Ensembl Gene ENSMUSG00000028577
Gene Name phospholipase A2, activating protein
Synonyms Ufd3, D4Ertd618e
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R6646 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 94455751-94491481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94478215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 82 (H82Q)
Ref Sequence ENSEMBL: ENSMUSP00000102724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107107]
AlphaFold P27612
Predicted Effect probably benign
Transcript: ENSMUST00000107107
AA Change: H82Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: H82Q

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 noncoding transcript
Transcript: ENSMUST00000136669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146118
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null Het
Other mutations in Plaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Plaa APN 4 94,470,844 (GRCm39) missense probably benign 0.00
IGL01089:Plaa APN 4 94,462,284 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGAGCACAGGTGTATATACCCAC -3'
(R):5'- ACCTGCGTACTGAGTAGTAATGG -3'

Sequencing Primer
(F):5'- TGACGGTCCAAAAAGGTTTCC -3'
(R):5'- CTGCGTACTGAGTAGTAATGGATTTC -3'
Posted On 2018-07-24