Incidental Mutation 'R4978:Plaa'
ID 384587
Institutional Source Beutler Lab
Gene Symbol Plaa
Ensembl Gene ENSMUSG00000028577
Gene Name phospholipase A2, activating protein
Synonyms Ufd3, D4Ertd618e
MMRRC Submission 042573-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R4978 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 94455751-94491481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94478169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 98 (S98P)
Ref Sequence ENSEMBL: ENSMUSP00000102724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107107]
AlphaFold P27612
Predicted Effect possibly damaging
Transcript: ENSMUST00000107107
AA Change: S98P

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: S98P

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
Meta Mutation Damage Score 0.0819 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 96% (70/73)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 G A 8: 56,324,436 (GRCm39) P673S probably damaging Het
Adam39 T C 8: 41,278,374 (GRCm39) I255T possibly damaging Het
Adgrg6 A G 10: 14,296,205 (GRCm39) F1093S probably damaging Het
Amer3 A G 1: 34,618,381 (GRCm39) probably benign Het
Avil A T 10: 126,854,265 (GRCm39) N744I probably benign Het
B430305J03Rik T C 3: 61,271,440 (GRCm39) probably benign Het
Caps2 A T 10: 112,018,399 (GRCm39) Q141L probably benign Het
Capza2 T A 6: 17,662,114 (GRCm39) D201E probably null Het
Ccdc7b T C 8: 129,836,688 (GRCm39) probably null Het
Clcn6 C T 4: 148,093,227 (GRCm39) V818I probably benign Het
Cpeb4 C T 11: 31,881,509 (GRCm39) H723Y probably null Het
Cspp1 T A 1: 10,153,742 (GRCm39) F384I possibly damaging Het
Cyp2c50 T G 19: 40,086,501 (GRCm39) V355G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpys A T 15: 39,690,332 (GRCm39) D340E possibly damaging Het
Dsp T A 13: 38,366,210 (GRCm39) L548Q probably damaging Het
Dyrk2 A T 10: 118,696,252 (GRCm39) D335E probably benign Het
Etaa1 T C 11: 17,896,581 (GRCm39) D512G probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fh1 A T 1: 175,431,533 (GRCm39) M451K probably damaging Het
Flrt1 A G 19: 7,074,241 (GRCm39) L102P probably damaging Het
Gins2 A G 8: 121,315,550 (GRCm39) L40S possibly damaging Het
Gm5436 G A 12: 84,305,461 (GRCm39) noncoding transcript Het
Gm7298 T G 6: 121,710,076 (GRCm39) probably null Het
Gm7353 A G 7: 3,160,038 (GRCm39) noncoding transcript Het
Gramd1a T C 7: 30,832,213 (GRCm39) E608G possibly damaging Het
Hcls1 T C 16: 36,758,222 (GRCm39) W38R probably damaging Het
Ik C T 18: 36,880,468 (GRCm39) P51S possibly damaging Het
Irx1 A G 13: 72,111,604 (GRCm39) S2P possibly damaging Het
Kng2 T A 16: 22,806,666 (GRCm39) N511I probably damaging Het
Limk2 G T 11: 3,359,069 (GRCm39) probably benign Het
Map1a T G 2: 121,131,623 (GRCm39) V813G probably benign Het
Mast1 T C 8: 85,662,416 (GRCm39) T31A probably damaging Het
N4bp2 T C 5: 65,947,583 (GRCm39) F71S probably damaging Het
Neurod1 C T 2: 79,284,571 (GRCm39) G271R probably damaging Het
Or52x1 T C 7: 104,853,398 (GRCm39) I51V probably benign Het
Pcdhb22 A G 18: 37,651,654 (GRCm39) T41A probably benign Het
Pclo T A 5: 14,764,492 (GRCm39) S4322T probably benign Het
Pde9a T A 17: 31,692,197 (GRCm39) D497E probably benign Het
Prl2c1 A G 13: 28,041,553 (GRCm39) T192A probably benign Het
Ptpn18 T C 1: 34,508,894 (GRCm39) probably benign Het
Rab27b C T 18: 70,127,585 (GRCm39) V68I probably benign Het
Reep5 A G 18: 34,506,349 (GRCm39) F9S probably damaging Het
Scaf11 T C 15: 96,313,798 (GRCm39) N1328D probably damaging Het
Slc25a13 G A 6: 6,042,300 (GRCm39) S626F probably damaging Het
Smg1 A G 7: 117,753,470 (GRCm39) probably benign Het
Spock2 T A 10: 59,966,911 (GRCm39) F332I probably benign Het
Tep1 C T 14: 51,082,891 (GRCm39) R1039Q possibly damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Tradd T C 8: 105,985,900 (GRCm39) Q217R probably benign Het
Umodl1 T C 17: 31,205,055 (GRCm39) I550T probably benign Het
Vgll3 T A 16: 65,612,572 (GRCm39) Y18* probably null Het
Vmn1r49 G T 6: 90,049,872 (GRCm39) N43K probably benign Het
Vps50 A G 6: 3,517,808 (GRCm39) N82S probably benign Het
Vstm2a A G 11: 16,211,460 (GRCm39) D90G possibly damaging Het
Vwa3b A G 1: 37,154,752 (GRCm39) Y512C probably damaging Het
Wrnip1 A G 13: 33,000,295 (GRCm39) D434G probably damaging Het
Zan C T 5: 137,405,183 (GRCm39) probably benign Het
Zfp286 A G 11: 62,679,754 (GRCm39) probably null Het
Zkscan17 A G 11: 59,384,053 (GRCm39) V123A possibly damaging Het
Zkscan2 C G 7: 123,094,542 (GRCm39) A211P possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GCACAGGTGTATATACCCACAC -3'
(R):5'- ATGTCTTAGGGTAAGCCAGGGG -3'

Sequencing Primer
(F):5'- GGTGTATATACCCACACAGACATTC -3'
(R):5'- GCCAAGTGTGTTTGTATTAATGATCC -3'
Posted On 2016-05-10