Incidental Mutation 'IGL01086:Pla1a'
ID 52904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla1a
Ensembl Gene ENSMUSG00000002847
Gene Name phospholipase A1 member A
Synonyms Ps-pla1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01086
Quality Score
Chromosome 16
Chromosomal Location 38216479-38253507 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38227984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 298 (N298D)
Ref Sequence ENSEMBL: ENSMUSP00000002926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002926]
AlphaFold Q8VI78
Predicted Effect probably benign
Transcript: ENSMUST00000002926
AA Change: N298D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: N298D

Pfam:Lipase 15 336 9.4e-111 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,729 (GRCm39) R104S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Aim2 A G 1: 173,282,999 (GRCm39) Y27C probably damaging Het
Apol7b T C 15: 77,308,114 (GRCm39) E127G probably damaging Het
Atp10a T C 7: 58,474,066 (GRCm39) F1118L probably damaging Het
Cacna1e T C 1: 154,347,347 (GRCm39) D940G probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clip4 G A 17: 72,131,789 (GRCm39) V376I probably benign Het
Cmklr2 T C 1: 63,222,650 (GRCm39) E195G probably benign Het
Coro6 C A 11: 77,357,374 (GRCm39) C194* probably null Het
Crebbp T C 16: 3,997,416 (GRCm39) M223V probably benign Het
Dkk4 T A 8: 23,116,857 (GRCm39) C157S probably damaging Het
Dnah14 T C 1: 181,579,611 (GRCm39) L3048S probably benign Het
Dscaml1 T C 9: 45,613,960 (GRCm39) probably benign Het
Gria2 T C 3: 80,599,688 (GRCm39) Y732C probably damaging Het
Igkv4-59 T C 6: 69,415,707 (GRCm39) I7V probably benign Het
Lamc3 T C 2: 31,788,488 (GRCm39) F216S probably damaging Het
Lcn6 T C 2: 25,570,792 (GRCm39) F61L probably benign Het
Nup205 T A 6: 35,185,871 (GRCm39) probably benign Het
Or5w18 T A 2: 87,633,544 (GRCm39) Y266* probably null Het
Otof C T 5: 30,533,617 (GRCm39) probably null Het
Pik3c2b T C 1: 133,019,356 (GRCm39) C1035R probably damaging Het
Poteg T A 8: 27,963,648 (GRCm39) probably benign Het
Pwp1 T C 10: 85,715,757 (GRCm39) probably null Het
Scel A G 14: 103,849,827 (GRCm39) I631V probably benign Het
Scn3a T A 2: 65,300,503 (GRCm39) M1288L probably benign Het
Serpina11 T A 12: 103,952,329 (GRCm39) D147V probably damaging Het
Shroom3 T A 5: 93,096,311 (GRCm39) C1266S probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Srms A G 2: 180,854,216 (GRCm39) V117A probably damaging Het
Tmem161b T C 13: 84,370,541 (GRCm39) probably benign Het
Tmem94 A T 11: 115,681,110 (GRCm39) T158S probably benign Het
Tomm40l T C 1: 171,047,878 (GRCm39) probably null Het
Traf6 A G 2: 101,515,128 (GRCm39) I95V probably benign Het
Ttc13 A G 8: 125,402,085 (GRCm39) I686T probably damaging Het
Zmat2 C T 18: 36,929,163 (GRCm39) H104Y probably damaging Het
Other mutations in Pla1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Pla1a APN 16 38,235,212 (GRCm39) missense probably damaging 1.00
IGL01126:Pla1a APN 16 38,228,001 (GRCm39) missense probably benign
R1674:Pla1a UTSW 16 38,235,172 (GRCm39) missense probably benign 0.00
R2101:Pla1a UTSW 16 38,235,730 (GRCm39) missense probably damaging 0.99
R2415:Pla1a UTSW 16 38,228,112 (GRCm39) missense possibly damaging 0.69
R2987:Pla1a UTSW 16 38,228,104 (GRCm39) missense probably damaging 1.00
R4492:Pla1a UTSW 16 38,229,972 (GRCm39) missense probably benign
R5365:Pla1a UTSW 16 38,237,569 (GRCm39) missense probably benign 0.01
R5424:Pla1a UTSW 16 38,235,137 (GRCm39) missense probably damaging 1.00
R6349:Pla1a UTSW 16 38,237,486 (GRCm39) missense probably benign 0.04
R6388:Pla1a UTSW 16 38,217,834 (GRCm39) missense probably benign
R6443:Pla1a UTSW 16 38,229,949 (GRCm39) splice site probably null
R6996:Pla1a UTSW 16 38,217,830 (GRCm39) missense probably benign 0.04
R7021:Pla1a UTSW 16 38,221,244 (GRCm39) missense probably damaging 0.97
R7519:Pla1a UTSW 16 38,235,208 (GRCm39) missense possibly damaging 0.82
R8715:Pla1a UTSW 16 38,230,000 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21