Incidental Mutation 'R6443:Pla1a'
ID 519107
Institutional Source Beutler Lab
Gene Symbol Pla1a
Ensembl Gene ENSMUSG00000002847
Gene Name phospholipase A1 member A
Synonyms Ps-pla1
MMRRC Submission 044581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6443 (G1)
Quality Score 212.009
Status Validated
Chromosome 16
Chromosomal Location 38216479-38253507 bp(-) (GRCm39)
Type of Mutation splice site (8 bp from exon)
DNA Base Change (assembly) T to C at 38229949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002926]
AlphaFold Q8VI78
Predicted Effect probably null
Transcript: ENSMUST00000002926
SMART Domains Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847

DomainStartEndE-ValueType
Pfam:Lipase 15 336 9.4e-111 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.9%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,357 (GRCm39) L27P probably damaging Het
Actr6 T C 10: 89,550,733 (GRCm39) N354D probably damaging Het
Apbb1 T A 7: 105,222,970 (GRCm39) N214Y probably damaging Het
Bcar1 A T 8: 112,441,970 (GRCm39) V290E probably damaging Het
Ces1f T A 8: 94,001,993 (GRCm39) Q45L probably benign Het
Ctss A C 3: 95,454,114 (GRCm39) K221T probably benign Het
Dclre1b T A 3: 103,710,504 (GRCm39) N469I possibly damaging Het
Dnah12 C A 14: 26,600,008 (GRCm39) Q3683K probably benign Het
Dnah8 A G 17: 30,990,859 (GRCm39) I3301V probably benign Het
Ephb4 G A 5: 137,358,711 (GRCm39) G298E probably damaging Het
Eya3 T C 4: 132,439,238 (GRCm39) F455L probably damaging Het
Fkbp5 G T 17: 28,648,253 (GRCm39) A112D probably damaging Het
Glud1 T C 14: 34,061,884 (GRCm39) M468T probably benign Het
Gm5114 C A 7: 39,057,141 (GRCm39) R826L possibly damaging Het
Gramd2b G A 18: 56,618,457 (GRCm39) V222I probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lpin2 T C 17: 71,548,663 (GRCm39) S576P probably benign Het
Lrrc1 A G 9: 77,341,314 (GRCm39) F415L probably damaging Het
Mtmr3 A T 11: 4,437,358 (GRCm39) I1032K probably damaging Het
Nr5a1 G A 2: 38,600,442 (GRCm39) T75M probably damaging Het
Nwd1 G A 8: 73,388,994 (GRCm39) V141I possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,918 (GRCm39) Q134L probably benign Het
Or5ar1 T G 2: 85,671,979 (GRCm39) D52A probably damaging Het
Or6c214 C A 10: 129,591,277 (GRCm39) G14V probably damaging Het
Ppp1r36 A G 12: 76,464,413 (GRCm39) S4G probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 A T 7: 28,776,503 (GRCm39) M2204K probably damaging Het
Ryr3 T C 2: 112,506,278 (GRCm39) N3428S possibly damaging Het
Slc6a4 A G 11: 76,914,027 (GRCm39) K526E probably benign Het
Slc9a8 G A 2: 167,276,741 (GRCm39) R78H probably benign Het
Sptbn1 T C 11: 30,089,429 (GRCm39) D611G possibly damaging Het
Sstr2 G A 11: 113,516,080 (GRCm39) probably null Het
Tcf7 G T 11: 52,144,765 (GRCm39) T286N probably benign Het
Txndc5 A G 13: 38,712,179 (GRCm39) M69T possibly damaging Het
Usp48 T A 4: 137,341,074 (GRCm39) V358E probably damaging Het
Vmn2r1 T A 3: 64,012,374 (GRCm39) I745K possibly damaging Het
Zfp354b A G 11: 50,813,581 (GRCm39) I448T possibly damaging Het
Zfp523 A T 17: 28,420,381 (GRCm39) T189S probably damaging Het
Other mutations in Pla1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Pla1a APN 16 38,235,212 (GRCm39) missense probably damaging 1.00
IGL01086:Pla1a APN 16 38,227,984 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- AGCAATCGTTGGTGCTTAGC -3'
(R):5'- CTCCCAACCACTCTGATGTG -3'

Sequencing Primer
(F):5'- TCTTTCAAAAAGAGAACTCCAGAGG -3'
(R):5'- CACTCTGATGTGGGACTGG -3'
Posted On 2018-05-24