Incidental Mutation 'R8337:Pla2g12a'
ID 644662
Institutional Source Beutler Lab
Gene Symbol Pla2g12a
Ensembl Gene ENSMUSG00000027999
Gene Name phospholipase A2, group XIIA
Synonyms mGXII-1, GXII, Pla2g12, 2310004B05Rik, Rossy
MMRRC Submission 067800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R8337 (G1)
Quality Score 177.009
Status Validated
Chromosome 3
Chromosomal Location 129672255-129689474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129672465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 33 (D33G)
Ref Sequence ENSEMBL: ENSMUSP00000029629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029629] [ENSMUST00000061165] [ENSMUST00000077918]
AlphaFold Q9EPR2
Predicted Effect probably damaging
Transcript: ENSMUST00000029629
AA Change: D33G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029629
Gene: ENSMUSG00000027999
AA Change: D33G

DomainStartEndE-ValueType
Pfam:PLA2G12 14 192 4.2e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061165
SMART Domains Protein: ENSMUSP00000053651
Gene: ENSMUSG00000027999

DomainStartEndE-ValueType
Pfam:PLA2G12 30 153 3.9e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077918
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FIMAC 45 111 4.63e-38 SMART
KAZAL 63 109 6.91e-3 SMART
SR 117 220 2.95e-22 SMART
LDLa 225 262 1.07e-4 SMART
LDLa 263 300 7.16e-6 SMART
low complexity region 317 326 N/A INTRINSIC
Tryp_SPc 360 589 3.33e-71 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T C 16: 88,556,151 (GRCm39) Y122H probably damaging Het
Abhd14b T A 9: 106,327,240 (GRCm39) H7Q probably benign Het
Acod1 C T 14: 103,286,780 (GRCm39) R28W possibly damaging Het
Agap2 A G 10: 126,924,194 (GRCm39) T803A unknown Het
Angptl7 T C 4: 148,581,741 (GRCm39) E215G probably damaging Het
Ankrd34c T A 9: 89,611,951 (GRCm39) D130V probably damaging Het
BC028528 A G 3: 95,792,298 (GRCm39) V144A probably benign Het
Cab39l T C 14: 59,776,640 (GRCm39) F274L probably damaging Het
Cdsn T C 17: 35,866,415 (GRCm39) S315P possibly damaging Het
Celsr3 CGGGG CGGGGG 9: 108,718,471 (GRCm39) probably null Het
Cep97 A T 16: 55,735,394 (GRCm39) L540* probably null Het
Chrna2 G T 14: 66,387,017 (GRCm39) E388* probably null Het
Ckap4 A G 10: 84,364,460 (GRCm39) V201A probably damaging Het
Clec4b1 A G 6: 123,042,922 (GRCm39) K47R probably benign Het
Clvs2 A T 10: 33,404,484 (GRCm39) I244N possibly damaging Het
Cmtr1 G A 17: 29,893,151 (GRCm39) E57K probably benign Het
Cxxc1 T A 18: 74,353,910 (GRCm39) D565E possibly damaging Het
Dtx3l T A 16: 35,754,073 (GRCm39) M178L probably benign Het
Eml2 A G 7: 18,930,161 (GRCm39) D294G possibly damaging Het
Flt3 A G 5: 147,269,698 (GRCm39) probably null Het
Frs3 T A 17: 48,014,777 (GRCm39) L490Q probably damaging Het
Gm6882 G A 7: 21,161,559 (GRCm39) T103I possibly damaging Het
Gsdmd C T 15: 75,736,270 (GRCm39) T133I probably benign Het
Hhipl2 C A 1: 183,209,540 (GRCm39) C331* probably null Het
Ifnar1 C A 16: 91,302,224 (GRCm39) D566E possibly damaging Het
Ighv1-34 A T 12: 114,814,939 (GRCm39) N74K probably benign Het
Itk T C 11: 46,233,222 (GRCm39) probably null Het
Kdm7a T C 6: 39,122,461 (GRCm39) D801G probably benign Het
Marchf1 T C 8: 66,871,641 (GRCm39) L139P probably damaging Het
Metap1d T C 2: 71,345,982 (GRCm39) V181A probably damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mrps25 T C 6: 92,152,745 (GRCm39) T92A probably benign Het
Mucl3 T C 17: 35,948,486 (GRCm39) H371R possibly damaging Het
Ntng2 C A 2: 29,138,050 (GRCm39) M1I probably null Het
Or51b17 C T 7: 103,542,256 (GRCm39) G229R probably benign Het
Or51q1 A C 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or8b57 T C 9: 40,003,695 (GRCm39) K189R probably benign Het
Prlhr A G 19: 60,456,284 (GRCm39) V94A possibly damaging Het
Ralgapb T A 2: 158,292,192 (GRCm39) S793T probably benign Het
Rapgef6 T A 11: 54,522,127 (GRCm39) L455* probably null Het
Sbf2 T C 7: 110,040,669 (GRCm39) H386R probably benign Het
Sec23ip C A 7: 128,365,749 (GRCm39) N539K probably damaging Het
Shisa4 A G 1: 135,300,907 (GRCm39) L121P probably damaging Het
Slc28a2b C T 2: 122,355,617 (GRCm39) T603I probably benign Het
Stard9 T A 2: 120,510,306 (GRCm39) F296I probably damaging Het
Strn3 T C 12: 51,707,955 (GRCm39) K147E probably damaging Het
Taf5l T C 8: 124,724,841 (GRCm39) N326S probably benign Het
Tfb2m T A 1: 179,369,914 (GRCm39) I170L probably benign Het
Tfec T C 6: 16,845,422 (GRCm39) N79S possibly damaging Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Tox3 T C 8: 91,074,507 (GRCm39) Y24C probably damaging Het
Vmn2r6 A T 3: 64,463,526 (GRCm39) L436* probably null Het
Vmn2r80 A G 10: 78,984,707 (GRCm39) I20V probably benign Het
Wdr97 T C 15: 76,245,684 (GRCm39) V1307A Het
Other mutations in Pla2g12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0398:Pla2g12a UTSW 3 129,684,045 (GRCm39) missense probably benign 0.00
R0689:Pla2g12a UTSW 3 129,674,947 (GRCm39) critical splice donor site probably null
R1529:Pla2g12a UTSW 3 129,672,534 (GRCm39) missense probably damaging 1.00
R1729:Pla2g12a UTSW 3 129,688,589 (GRCm39) missense probably benign 0.02
R4925:Pla2g12a UTSW 3 129,672,467 (GRCm39) missense probably damaging 1.00
R5715:Pla2g12a UTSW 3 129,688,591 (GRCm39) missense probably damaging 1.00
R6512:Pla2g12a UTSW 3 129,682,606 (GRCm39) missense probably benign 0.00
R7559:Pla2g12a UTSW 3 129,672,569 (GRCm39) missense probably damaging 1.00
R9261:Pla2g12a UTSW 3 129,684,080 (GRCm39) missense possibly damaging 0.87
R9603:Pla2g12a UTSW 3 129,674,900 (GRCm39) missense unknown
Z1088:Pla2g12a UTSW 3 129,684,029 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TCCATAGAGGCAGGACCGTAAG -3'
(R):5'- GGCTCGGATTCTCGCATTTC -3'

Sequencing Primer
(F):5'- ACGTGGGCAATGAGGCTC -3'
(R):5'- AGCCTCCGGGGACTGTC -3'
Posted On 2020-09-02