Incidental Mutation 'R5365:Pla1a'
ID 423101
Institutional Source Beutler Lab
Gene Symbol Pla1a
Ensembl Gene ENSMUSG00000002847
Gene Name phospholipase A1 member A
Synonyms Ps-pla1
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5365 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 38216479-38253507 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38237569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000002926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002926]
AlphaFold Q8VI78
Predicted Effect probably benign
Transcript: ENSMUST00000002926
AA Change: L43P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: L43P

DomainStartEndE-ValueType
Pfam:Lipase 15 336 9.4e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232224
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Bpnt2 G A 4: 4,776,385 (GRCm39) T190I probably damaging Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Dgkd C T 1: 87,863,138 (GRCm39) R62C probably damaging Het
Ephx3 A G 17: 32,408,223 (GRCm39) L67P probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Igkv9-120 T C 6: 68,027,433 (GRCm39) S116P probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pigf A T 17: 87,331,136 (GRCm39) V62E possibly damaging Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A 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
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
Predicted Primers PCR Primer
(F):5'- TCCTACGGGTTGCTTAGCTC -3'
(R):5'- TCGGCTTACAGAACTGATGCAAC -3'

Sequencing Primer
(F):5'- GGGTTGCTTAGCTCTCACCTG -3'
(R):5'- ATTAATCGCTGAGCTGGCTGAC -3'
Posted On 2016-08-04