Incidental Mutation 'R6777:Pla2g2c'
ID 531331
Institutional Source Beutler Lab
Gene Symbol Pla2g2c
Ensembl Gene ENSMUSG00000028750
Gene Name phospholipase A2, group IIC
Synonyms
MMRRC Submission 044893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6777 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 138452636-138471886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138470976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000101434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030530] [ENSMUST00000105808] [ENSMUST00000124660]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030530
AA Change: V119A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030530
Gene: ENSMUSG00000028750
AA Change: V119A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 143 1.83e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105808
AA Change: V119A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101434
Gene: ENSMUSG00000028750
AA Change: V119A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 143 1.83e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124660
AA Change: V119A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124341
Gene: ENSMUSG00000028750
AA Change: V119A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 128 1.4e-37 SMART
Meta Mutation Damage Score 0.1282 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A T 7: 12,246,756 (GRCm39) L45F probably benign Het
Adam7 T C 14: 68,762,784 (GRCm39) Y147C probably damaging Het
Adss2 A T 1: 177,603,902 (GRCm39) probably null Het
Atp2c1 T A 9: 105,295,799 (GRCm39) I812L possibly damaging Het
Capn2 A G 1: 182,297,742 (GRCm39) probably null Het
Crybg3 A G 16: 59,378,678 (GRCm39) probably benign Het
Cux1 C G 5: 136,594,422 (GRCm39) probably benign Het
Dkk2 T A 3: 131,879,572 (GRCm39) C84S probably damaging Het
Eml3 T C 19: 8,914,086 (GRCm39) V128A probably benign Het
Fzr1 A G 10: 81,206,327 (GRCm39) Y148H probably damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Ganc A G 2: 120,274,630 (GRCm39) T584A probably damaging Het
Gldc T C 19: 30,110,912 (GRCm39) T564A probably damaging Het
Gm49359 A T 13: 62,603,006 (GRCm39) C65S probably benign Het
Hspa12a A G 19: 58,810,519 (GRCm39) Y175H probably benign Het
Ly6g A G 15: 75,030,431 (GRCm39) D60G probably benign Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Pex1 T A 5: 3,672,358 (GRCm39) C694S probably benign Het
Pkd1l3 T C 8: 110,353,446 (GRCm39) F676L probably benign Het
Ralgps2 A G 1: 156,715,515 (GRCm39) probably null Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Serpina3c T C 12: 104,118,069 (GRCm39) K90E probably benign Het
Slc24a3 A G 2: 145,482,202 (GRCm39) Y620C probably damaging Het
Smg1 C A 7: 117,788,340 (GRCm39) probably benign Het
Srp68 A T 11: 116,153,730 (GRCm39) V198E probably damaging Het
Ssx2ip C T 3: 146,144,476 (GRCm39) T580M possibly damaging Het
Terf2 A G 8: 107,797,169 (GRCm39) V434A possibly damaging Het
Tmem242 G A 17: 5,483,830 (GRCm39) P71S probably damaging Het
Tmprss13 C T 9: 45,247,399 (GRCm39) R254* probably null Het
Trgv3 A G 13: 19,427,450 (GRCm39) Y111C probably damaging Het
Other mutations in Pla2g2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Pla2g2c APN 4 138,471,012 (GRCm39) missense probably benign 0.16
IGL02219:Pla2g2c APN 4 138,463,319 (GRCm39) missense probably damaging 1.00
IGL03087:Pla2g2c APN 4 138,458,923 (GRCm39) missense probably benign 0.03
R0047:Pla2g2c UTSW 4 138,470,901 (GRCm39) splice site probably benign
R0047:Pla2g2c UTSW 4 138,470,901 (GRCm39) splice site probably benign
R4491:Pla2g2c UTSW 4 138,461,719 (GRCm39) critical splice donor site probably null
R4817:Pla2g2c UTSW 4 138,461,645 (GRCm39) missense probably damaging 1.00
R5257:Pla2g2c UTSW 4 138,458,856 (GRCm39) start gained probably benign
R5360:Pla2g2c UTSW 4 138,461,656 (GRCm39) missense possibly damaging 0.54
R7346:Pla2g2c UTSW 4 138,461,650 (GRCm39) missense probably damaging 1.00
R7447:Pla2g2c UTSW 4 138,458,927 (GRCm39) missense probably benign 0.39
R9083:Pla2g2c UTSW 4 138,463,378 (GRCm39) missense probably benign 0.04
R9500:Pla2g2c UTSW 4 138,461,689 (GRCm39) nonsense probably null
R9744:Pla2g2c UTSW 4 138,470,972 (GRCm39) missense probably damaging 1.00
Z1088:Pla2g2c UTSW 4 138,461,597 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCAGCTCATTGCAGCAAGG -3'
(R):5'- TTCCAGGGCAGGAATTCTCC -3'

Sequencing Primer
(F):5'- CTCATTGCAGCAAGGAAGGATG -3'
(R):5'- AGGGCAGGAATTCTCCACCTC -3'
Posted On 2018-08-29