Incidental Mutation 'R9740:Pla2g4d'
ID 731783
Institutional Source Beutler Lab
Gene Symbol Pla2g4d
Ensembl Gene ENSMUSG00000070719
Gene Name phospholipase A2, group IVD
Synonyms Pla2delta, 2610311B01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9740 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120265595-120289197 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120277471 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 319 (Q319P)
Ref Sequence ENSEMBL: ENSMUSP00000092252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094665]
AlphaFold Q50L43
Predicted Effect probably damaging
Transcript: ENSMUST00000094665
AA Change: Q319P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: Q319P

DomainStartEndE-ValueType
C2 32 132 1.12e-18 SMART
PLAc 263 766 3.36e-11 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 T G 11: 5,871,721 Y1087D probably benign Het
Bdh1 A G 16: 31,438,035 M37V possibly damaging Het
Bnip3l G A 14: 67,008,765 P7L possibly damaging Het
Clec1b C T 6: 129,403,586 S155L probably benign Het
Crym A T 7: 120,195,438 V186D probably benign Het
D6Ertd527e G C 6: 87,111,857 S334T unknown Het
Det1 A T 7: 78,844,253 M1K probably null Het
Fam110b A G 4: 5,799,070 K163E probably benign Het
Fam234a A T 17: 26,213,815 V482E probably damaging Het
Grin2b A G 6: 135,922,870 probably null Het
Herc1 A G 9: 66,448,514 E2349G probably damaging Het
Kdsr A G 1: 106,739,396 Y210H possibly damaging Het
Lcn6 A T 2: 25,681,179 T110S probably benign Het
Macf1 T C 4: 123,372,384 H6807R probably damaging Het
Macf1 T C 4: 123,473,060 Y2636C probably damaging Het
Myh2 T G 11: 67,189,226 I1115S probably damaging Het
Npepl1 C A 2: 174,121,490 N438K probably damaging Het
Nrros G A 16: 32,144,849 H117Y possibly damaging Het
Olfr1148 T C 2: 87,833,551 S171P probably damaging Het
Pitpnm3 T C 11: 72,056,276 T782A probably benign Het
Ptcd1 A T 5: 145,159,484 D266E probably benign Het
Slitrk6 A C 14: 110,749,998 L759W probably damaging Het
Slitrk6 T G 14: 110,750,012 L754F probably benign Het
Sox5 A T 6: 144,155,221 M14K probably damaging Het
Ssmem1 T A 6: 30,512,455 D32E possibly damaging Het
St18 A T 1: 6,803,063 R341* probably null Het
Stag1 T C 9: 100,705,235 S4P probably damaging Het
Suz12 G T 11: 79,999,094 E144* probably null Het
Tex52 A G 6: 128,379,710 N122S possibly damaging Het
Tmem2 A T 19: 21,844,741 M1167L probably benign Het
Tril A G 6: 53,818,119 L706P possibly damaging Het
Trim65 T C 11: 116,130,608 D133G probably benign Het
Ttc6 A T 12: 57,689,710 I1166F probably damaging Het
Zfp709 C T 8: 71,889,290 R188C probably damaging Het
Zfp974 A G 7: 27,910,600 C567R probably damaging Het
Zmiz1 A G 14: 25,656,826 D842G possibly damaging Het
Other mutations in Pla2g4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Pla2g4d APN 2 120281726 missense probably damaging 1.00
IGL01405:Pla2g4d APN 2 120266823 missense probably benign 0.01
IGL01642:Pla2g4d APN 2 120280636 missense probably damaging 1.00
IGL01657:Pla2g4d APN 2 120275287 missense possibly damaging 0.91
BB001:Pla2g4d UTSW 2 120289164 start gained probably benign
R0962:Pla2g4d UTSW 2 120280617 critical splice donor site probably null
R1564:Pla2g4d UTSW 2 120268903 missense possibly damaging 0.76
R1576:Pla2g4d UTSW 2 120284167 missense probably damaging 1.00
R1667:Pla2g4d UTSW 2 120270150 splice site probably benign
R1680:Pla2g4d UTSW 2 120277750 critical splice donor site probably null
R1712:Pla2g4d UTSW 2 120277490 missense possibly damaging 0.51
R2253:Pla2g4d UTSW 2 120271141 missense probably damaging 0.99
R2919:Pla2g4d UTSW 2 120281627 splice site probably benign
R3122:Pla2g4d UTSW 2 120278903 missense probably benign 0.03
R4420:Pla2g4d UTSW 2 120284163 missense probably benign
R4737:Pla2g4d UTSW 2 120266790 missense probably benign 0.00
R4829:Pla2g4d UTSW 2 120266743 missense probably damaging 1.00
R5032:Pla2g4d UTSW 2 120281695 nonsense probably null
R5530:Pla2g4d UTSW 2 120269555 missense probably benign 0.06
R5677:Pla2g4d UTSW 2 120278948 missense possibly damaging 0.87
R6087:Pla2g4d UTSW 2 120270006 missense probably damaging 1.00
R6088:Pla2g4d UTSW 2 120270006 missense probably damaging 1.00
R6150:Pla2g4d UTSW 2 120269564 missense probably damaging 1.00
R6930:Pla2g4d UTSW 2 120270633 missense probably damaging 1.00
R7240:Pla2g4d UTSW 2 120270349 missense probably damaging 1.00
R7284:Pla2g4d UTSW 2 120284136 missense probably damaging 1.00
R7339:Pla2g4d UTSW 2 120278978 missense probably benign
R7552:Pla2g4d UTSW 2 120284139 missense possibly damaging 0.56
R7607:Pla2g4d UTSW 2 120288976 missense probably benign
R7692:Pla2g4d UTSW 2 120279295 missense possibly damaging 0.84
R7860:Pla2g4d UTSW 2 120266730 missense probably benign 0.13
R7924:Pla2g4d UTSW 2 120289164 start gained probably benign
R7972:Pla2g4d UTSW 2 120278932 missense probably benign 0.04
R8373:Pla2g4d UTSW 2 120277499 missense probably null 1.00
R8737:Pla2g4d UTSW 2 120269985 missense probably damaging 1.00
R8752:Pla2g4d UTSW 2 120268767 critical splice donor site probably null
R8987:Pla2g4d UTSW 2 120269961 missense probably damaging 1.00
R9221:Pla2g4d UTSW 2 120269972 missense possibly damaging 0.76
R9251:Pla2g4d UTSW 2 120268897 missense possibly damaging 0.87
X0026:Pla2g4d UTSW 2 120277471 missense probably damaging 0.99
X0028:Pla2g4d UTSW 2 120281726 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACCTGGATTGCATAGAGATG -3'
(R):5'- CTATGGTCACCCAAGGAGTG -3'

Sequencing Primer
(F):5'- TCAGGGCTGACTGAGGGTC -3'
(R):5'- CAAGGAGTGAGCCATGCAGTTTTC -3'
Posted On 2022-11-14