Incidental Mutation 'R1576:Pla2g4d'
ID 171149
Institutional Source Beutler Lab
Gene Symbol Pla2g4d
Ensembl Gene ENSMUSG00000070719
Gene Name phospholipase A2, group IVD
Synonyms Pla2delta, 2610311B01Rik
MMRRC Submission 039614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1576 (G1)
Quality Score 161
Status Validated
Chromosome 2
Chromosomal Location 120096347-120119678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120114648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
Ref Sequence ENSEMBL: ENSMUSP00000092252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094665]
AlphaFold Q50L43
Predicted Effect probably damaging
Transcript: ENSMUST00000094665
AA Change: S28P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: S28P

DomainStartEndE-ValueType
C2 32 132 1.12e-18 SMART
PLAc 263 766 3.36e-11 SMART
Meta Mutation Damage Score 0.2774 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 G A 8: 23,298,483 (GRCm39) probably benign Het
Apol11a T A 15: 77,401,131 (GRCm39) I206N probably damaging Het
Arfgap3 A G 15: 83,197,764 (GRCm39) S331P possibly damaging Het
Arhgef16 A C 4: 154,375,769 (GRCm39) L75R probably damaging Het
Cfi T C 3: 129,666,699 (GRCm39) V474A probably damaging Het
Dhx8 T C 11: 101,643,145 (GRCm39) V739A probably damaging Het
Dpy19l2 T A 9: 24,495,798 (GRCm39) H640L probably benign Het
Eif4g3 T A 4: 137,824,181 (GRCm39) M57K probably damaging Het
Emilin2 A G 17: 71,562,112 (GRCm39) probably null Het
Epc1 T C 18: 6,452,366 (GRCm39) E281G possibly damaging Het
Fancd2 G T 6: 113,555,366 (GRCm39) S1125I probably damaging Het
Fh1 G A 1: 175,435,385 (GRCm39) P366L probably null Het
Gata3 A T 2: 9,868,007 (GRCm39) S316T probably damaging Het
Hmcn1 A T 1: 150,532,992 (GRCm39) S3064T possibly damaging Het
Inpp5d A T 1: 87,597,407 (GRCm39) T193S probably benign Het
Inpp5d A T 1: 87,609,280 (GRCm39) I277F probably damaging Het
Itga5 T C 15: 103,260,044 (GRCm39) D616G probably damaging Het
Jade1 T A 3: 41,546,242 (GRCm39) V89E probably damaging Het
Lamb2 T C 9: 108,357,506 (GRCm39) S81P probably damaging Het
Lrrc19 G A 4: 94,527,590 (GRCm39) P207L probably damaging Het
Maea A G 5: 33,520,040 (GRCm39) D147G probably damaging Het
Muc6 T A 7: 141,214,437 (GRCm39) E2767V possibly damaging Het
Myom2 A G 8: 15,134,556 (GRCm39) Y453C probably damaging Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,330,681 (GRCm39) D362G probably damaging Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nudt21 A C 8: 94,755,461 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,310 (GRCm39) N475D probably benign Het
Pcdhb8 A G 18: 37,489,756 (GRCm39) D478G probably damaging Het
Polr2j C A 5: 136,148,882 (GRCm39) N29K probably damaging Het
Ppp2r2a A G 14: 67,276,318 (GRCm39) probably benign Het
Ptprk A G 10: 28,427,647 (GRCm39) D742G probably damaging Het
Pum2 A G 12: 8,763,524 (GRCm39) D227G probably benign Het
Rfxank C A 8: 70,586,953 (GRCm39) R221L possibly damaging Het
Shank3 C A 15: 89,387,866 (GRCm39) Q317K probably benign Het
Slc22a17 A G 14: 55,145,447 (GRCm39) V460A probably damaging Het
Slc39a11 G T 11: 113,450,361 (GRCm39) D41E probably damaging Het
Spag17 T C 3: 99,846,679 (GRCm39) S68P possibly damaging Het
Sstr5 C T 17: 25,710,272 (GRCm39) C319Y possibly damaging Het
Stk17b G T 1: 53,796,749 (GRCm39) D339E probably damaging Het
Tagln2 A G 1: 172,332,788 (GRCm39) D25G probably benign Het
Ttn C T 2: 76,625,194 (GRCm39) V13417I probably benign Het
Vps50 A G 6: 3,545,568 (GRCm39) E334G possibly damaging Het
Zfp316 T C 5: 143,249,849 (GRCm39) E138G unknown Het
Zfp879 T A 11: 50,724,376 (GRCm39) T227S probably benign Het
Other mutations in Pla2g4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Pla2g4d APN 2 120,112,207 (GRCm39) missense probably damaging 1.00
IGL01405:Pla2g4d APN 2 120,097,304 (GRCm39) missense probably benign 0.01
IGL01642:Pla2g4d APN 2 120,111,117 (GRCm39) missense probably damaging 1.00
IGL01657:Pla2g4d APN 2 120,105,768 (GRCm39) missense possibly damaging 0.91
BB001:Pla2g4d UTSW 2 120,119,645 (GRCm39) start gained probably benign
R0962:Pla2g4d UTSW 2 120,111,098 (GRCm39) critical splice donor site probably null
R1564:Pla2g4d UTSW 2 120,099,384 (GRCm39) missense possibly damaging 0.76
R1667:Pla2g4d UTSW 2 120,100,631 (GRCm39) splice site probably benign
R1680:Pla2g4d UTSW 2 120,108,231 (GRCm39) critical splice donor site probably null
R1712:Pla2g4d UTSW 2 120,107,971 (GRCm39) missense possibly damaging 0.51
R2253:Pla2g4d UTSW 2 120,101,622 (GRCm39) missense probably damaging 0.99
R2919:Pla2g4d UTSW 2 120,112,108 (GRCm39) splice site probably benign
R3122:Pla2g4d UTSW 2 120,109,384 (GRCm39) missense probably benign 0.03
R4420:Pla2g4d UTSW 2 120,114,644 (GRCm39) missense probably benign
R4737:Pla2g4d UTSW 2 120,097,271 (GRCm39) missense probably benign 0.00
R4829:Pla2g4d UTSW 2 120,097,224 (GRCm39) missense probably damaging 1.00
R5032:Pla2g4d UTSW 2 120,112,176 (GRCm39) nonsense probably null
R5530:Pla2g4d UTSW 2 120,100,036 (GRCm39) missense probably benign 0.06
R5677:Pla2g4d UTSW 2 120,109,429 (GRCm39) missense possibly damaging 0.87
R6087:Pla2g4d UTSW 2 120,100,487 (GRCm39) missense probably damaging 1.00
R6088:Pla2g4d UTSW 2 120,100,487 (GRCm39) missense probably damaging 1.00
R6150:Pla2g4d UTSW 2 120,100,045 (GRCm39) missense probably damaging 1.00
R6930:Pla2g4d UTSW 2 120,101,114 (GRCm39) missense probably damaging 1.00
R7240:Pla2g4d UTSW 2 120,100,830 (GRCm39) missense probably damaging 1.00
R7284:Pla2g4d UTSW 2 120,114,617 (GRCm39) missense probably damaging 1.00
R7339:Pla2g4d UTSW 2 120,109,459 (GRCm39) missense probably benign
R7552:Pla2g4d UTSW 2 120,114,620 (GRCm39) missense possibly damaging 0.56
R7607:Pla2g4d UTSW 2 120,119,457 (GRCm39) missense probably benign
R7692:Pla2g4d UTSW 2 120,109,776 (GRCm39) missense possibly damaging 0.84
R7860:Pla2g4d UTSW 2 120,097,211 (GRCm39) missense probably benign 0.13
R7924:Pla2g4d UTSW 2 120,119,645 (GRCm39) start gained probably benign
R7972:Pla2g4d UTSW 2 120,109,413 (GRCm39) missense probably benign 0.04
R8373:Pla2g4d UTSW 2 120,107,980 (GRCm39) missense probably null 1.00
R8737:Pla2g4d UTSW 2 120,100,466 (GRCm39) missense probably damaging 1.00
R8752:Pla2g4d UTSW 2 120,099,248 (GRCm39) critical splice donor site probably null
R8987:Pla2g4d UTSW 2 120,100,442 (GRCm39) missense probably damaging 1.00
R9221:Pla2g4d UTSW 2 120,100,453 (GRCm39) missense possibly damaging 0.76
R9251:Pla2g4d UTSW 2 120,099,378 (GRCm39) missense possibly damaging 0.87
R9740:Pla2g4d UTSW 2 120,107,952 (GRCm39) missense probably damaging 1.00
X0026:Pla2g4d UTSW 2 120,107,952 (GRCm39) missense probably damaging 0.99
X0028:Pla2g4d UTSW 2 120,112,207 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGACAACCCCAGTATCCCCTGAG -3'
(R):5'- TCGAGAGTAGGCTGTGCCAACAAG -3'

Sequencing Primer
(F):5'- GTATCCCCTGAGAGCAGCTAAG -3'
(R):5'- AATTGAGATTCTGTCCCTCAATCAC -3'
Posted On 2014-04-13