Incidental Mutation 'R1470:Pla2g4a'
ID 165753
Institutional Source Beutler Lab
Gene Symbol Pla2g4a
Ensembl Gene ENSMUSG00000056220
Gene Name phospholipase A2, group IVA (cytosolic, calcium-dependent)
Synonyms cytosolic phospholipase A2, cytosolic PLA2, Type IV PLA2, Pla2g4, cPLA2, cPLA2alpha
MMRRC Submission 039523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R1470 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 149705369-149837041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149716471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 663 (D663E)
Ref Sequence ENSEMBL: ENSMUSP00000107557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070200] [ENSMUST00000111926]
AlphaFold P47713
Predicted Effect probably damaging
Transcript: ENSMUST00000070200
AA Change: D671E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: D671E

DomainStartEndE-ValueType
C2 19 121 8.23e-17 SMART
PLAc 117 668 N/A SMART
Blast:PLAc 706 748 3e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104328
Predicted Effect probably damaging
Transcript: ENSMUST00000111926
AA Change: D663E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: D663E

DomainStartEndE-ValueType
C2 11 113 8.23e-17 SMART
PLAc 109 660 N/A SMART
Blast:PLAc 698 740 3e-10 BLAST
Meta Mutation Damage Score 0.0947 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.4%
  • 10x: 90.6%
  • 20x: 68.6%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the phospholipase A2 group IV family. This enzyme hydrolyzes membrane phospholipids, thereby releasing the polyunsaturated fatty acid, arachidonic acid. Arachidonic acid is further metabolized into eicosanoids such as leukotrienes, thromboxanes and prostaglandins, that play important roles in regulating diverse biological processes such as inflammatory responses, membrane and actin dynamics, and tumorigenesis. A rise in intracellular calcium levels results in binding of calcium to the C2 domain of this protein, and triggers the translocation from the cytosol to intracellular membranes, including the Golgi apparatus. Disruption of this gene in mice led to decreased levels of eicosonaoids and platelet-activating factor, decreased allergic symptoms, and impaired reproductive ability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions. They also display an increased incidence of insulin and reduced female reproductive performance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,944,337 (GRCm39) S749T unknown Het
Abcb4 A T 5: 8,990,968 (GRCm39) I843F probably damaging Het
Actr8 T A 14: 29,708,926 (GRCm39) H244Q possibly damaging Het
Adgrv1 A G 13: 81,530,417 (GRCm39) Y5886H probably benign Het
Agk T A 6: 40,363,751 (GRCm39) W244R probably damaging Het
Ankrd11 C A 8: 123,626,463 (GRCm39) V161L probably damaging Het
Arap3 T C 18: 38,122,249 (GRCm39) probably null Het
Armc3 A G 2: 19,243,547 (GRCm39) M88V probably benign Het
Atp13a5 G T 16: 29,167,833 (GRCm39) P109T probably benign Het
Avpr1b T A 1: 131,528,323 (GRCm39) V282D probably damaging Het
Baz2b T C 2: 59,808,890 (GRCm39) K120E possibly damaging Het
Bltp1 T C 3: 37,052,480 (GRCm39) M3060T probably benign Het
Cacng6 G A 7: 3,473,404 (GRCm39) C76Y probably damaging Het
Cactin G T 10: 81,158,985 (GRCm39) E279* probably null Het
Car9 A G 4: 43,510,222 (GRCm39) Y268C probably damaging Het
Ccdc146 T A 5: 21,524,564 (GRCm39) I263F probably damaging Het
Cdh16 T G 8: 105,345,003 (GRCm39) S429R probably benign Het
Cep250 A G 2: 155,832,995 (GRCm39) E1639G probably damaging Het
Ces1d A T 8: 93,921,649 (GRCm39) V38D possibly damaging Het
Chd1 A T 17: 15,946,545 (GRCm39) Q97L possibly damaging Het
Ciita G A 16: 10,332,332 (GRCm39) D898N possibly damaging Het
Clstn1 A G 4: 149,719,179 (GRCm39) N336S possibly damaging Het
Cntnap5a A G 1: 116,187,249 (GRCm39) D607G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col20a1 C T 2: 180,636,753 (GRCm39) H245Y probably benign Het
Coq8b A T 7: 26,951,734 (GRCm39) T399S probably benign Het
Cpn2 A G 16: 30,079,003 (GRCm39) S233P probably benign Het
Cryz G A 3: 154,312,113 (GRCm39) G70D probably damaging Het
Def6 T A 17: 28,444,956 (GRCm39) D451E possibly damaging Het
Dnah8 T A 17: 30,966,251 (GRCm39) C2480* probably null Het
Dnah9 T C 11: 65,818,648 (GRCm39) N3230S probably benign Het
Dyrk4 G T 6: 126,893,337 (GRCm39) S15* probably null Het
Erc1 T C 6: 119,671,563 (GRCm39) R917G probably damaging Het
Frem3 G T 8: 81,337,820 (GRCm39) V38L probably benign Het
Gas2l3 T C 10: 89,249,796 (GRCm39) I441V probably benign Het
Gm14393 T A 2: 174,905,774 (GRCm39) Y6F probably damaging Het
Gm1527 A G 3: 28,969,417 (GRCm39) K256E possibly damaging Het
Gm21905 G T 5: 68,103,740 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,424,656 (GRCm39) probably null Het
Hmces C A 6: 87,913,121 (GRCm39) T292K probably benign Het
Hpse2 G A 19: 43,376,692 (GRCm39) S20L probably benign Het
Ift70b G T 2: 75,768,155 (GRCm39) S199R probably benign Het
Ikbke A T 1: 131,204,224 (GRCm39) V23E probably null Het
Ino80 A T 2: 119,210,130 (GRCm39) V1387E probably damaging Het
Islr G T 9: 58,064,589 (GRCm39) A306D probably damaging Het
Jakmip1 G A 5: 37,258,182 (GRCm39) G276D probably damaging Het
Jchain A G 5: 88,673,979 (GRCm39) V55A probably benign Het
Kalrn T C 16: 34,007,841 (GRCm39) K1350E probably damaging Het
Kansl1l T C 1: 66,841,156 (GRCm39) Q48R possibly damaging Het
Kmt5a T C 5: 124,585,334 (GRCm39) L23P probably damaging Het
Lrba C T 3: 86,644,449 (GRCm39) H381Y probably damaging Het
Lrrc32 T C 7: 98,148,564 (GRCm39) V448A probably benign Het
Mapkbp1 T C 2: 119,848,301 (GRCm39) M617T probably damaging Het
Mfap1a T C 2: 121,333,282 (GRCm39) M50V probably benign Het
Mgam G T 6: 40,736,062 (GRCm39) A854S probably damaging Het
Myo18b C A 5: 112,840,899 (GRCm39) R2298L probably damaging Het
Myo1h T A 5: 114,457,765 (GRCm39) M92K probably damaging Het
Nlrp2 T A 7: 5,303,950 (GRCm39) T192S probably benign Het
Nr2f1 A T 13: 78,346,284 (GRCm39) Y137N possibly damaging Het
Nup98 T A 7: 101,796,513 (GRCm39) D841V probably damaging Het
Nvl A G 1: 180,966,827 (GRCm39) V59A probably damaging Het
Ogdhl C A 14: 32,068,745 (GRCm39) N948K probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or12j3 A G 7: 139,953,026 (GRCm39) S166P probably benign Het
Or13a24 A G 7: 140,154,662 (GRCm39) T199A probably benign Het
Or51g1 A C 7: 102,633,530 (GRCm39) Y280* probably null Het
Osgin1 G A 8: 120,171,704 (GRCm39) R166H probably damaging Het
Palb2 A T 7: 121,706,746 (GRCm39) F741I probably benign Het
Palb2 G T 7: 121,706,747 (GRCm39) Y740* probably null Het
Parvb G A 15: 84,155,509 (GRCm39) D65N probably benign Het
Parvb G A 15: 84,155,453 (GRCm39) G46D probably damaging Het
Pcsk2 A T 2: 143,388,438 (GRCm39) K10* probably null Het
Pde3a C T 6: 141,411,932 (GRCm39) A502V probably benign Het
Pfas T C 11: 68,882,185 (GRCm39) I893V probably benign Het
Prickle2 G A 6: 92,435,583 (GRCm39) P6L probably damaging Het
Prx T A 7: 27,217,026 (GRCm39) M648K probably benign Het
Ptpn21 T C 12: 98,654,735 (GRCm39) N744S probably benign Het
Ptprq C T 10: 107,554,435 (GRCm39) V97M probably damaging Het
Pvr T C 7: 19,652,549 (GRCm39) E122G possibly damaging Het
Racgap1 T C 15: 99,537,656 (GRCm39) K15E probably damaging Het
Rock1 C T 18: 10,136,091 (GRCm39) probably null Het
Rorc T A 3: 94,304,609 (GRCm39) Y331* probably null Het
Rpl37 T C 15: 5,148,096 (GRCm39) V91A probably benign Het
Rrp36 T A 17: 46,983,306 (GRCm39) K103* probably null Het
Ryr3 T A 2: 112,483,352 (GRCm39) M4142L probably benign Het
Sash1 A T 10: 8,665,357 (GRCm39) L125H probably damaging Het
Scn5a T C 9: 119,365,541 (GRCm39) M369V possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 C CT 11: 3,096,255 (GRCm39) probably null Het
Siglec1 A T 2: 130,912,307 (GRCm39) N1678K probably benign Het
Slc15a5 A T 6: 138,049,992 (GRCm39) V141E probably benign Het
Slc8a3 A T 12: 81,246,484 (GRCm39) H856Q probably benign Het
Sptlc2 T A 12: 87,402,414 (GRCm39) M171L probably benign Het
Srcap T A 7: 127,158,899 (GRCm39) probably benign Het
St6gal2 A G 17: 55,797,944 (GRCm39) D310G probably damaging Het
Susd2 T A 10: 75,473,888 (GRCm39) D689V probably damaging Het
Suz12 A T 11: 79,910,558 (GRCm39) E303V possibly damaging Het
Taldo1 C A 7: 140,978,500 (GRCm39) T150K probably damaging Het
Tg T A 15: 66,721,312 (GRCm39) F274I possibly damaging Het
Tmem151b T C 17: 45,856,663 (GRCm39) D259G probably damaging Het
Tmem179 G T 12: 112,468,288 (GRCm39) H64Q probably benign Het
Tmem236 A G 2: 14,223,732 (GRCm39) T174A probably benign Het
Tnc A T 4: 63,884,811 (GRCm39) N1821K probably damaging Het
Tnfrsf11a A G 1: 105,752,773 (GRCm39) N261S probably damaging Het
Trank1 C A 9: 111,172,300 (GRCm39) F96L possibly damaging Het
Trim56 T A 5: 137,142,017 (GRCm39) I500F probably damaging Het
Ttll5 A G 12: 85,926,168 (GRCm39) I321V possibly damaging Het
Ttn C A 2: 76,608,367 (GRCm39) W17852L probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Uba52 A G 8: 70,962,206 (GRCm39) I127T possibly damaging Het
Ubr4 T A 4: 139,148,537 (GRCm39) probably null Het
Uggt1 A T 1: 36,215,877 (GRCm39) M130K probably benign Het
Ulk4 T A 9: 120,910,722 (GRCm39) T1101S probably benign Het
Urb1 A G 16: 90,548,902 (GRCm39) S2269P probably benign Het
Ush2a G T 1: 188,132,403 (GRCm39) R875L probably benign Het
Usp9y T A Y: 1,332,471 (GRCm39) H1624L probably benign Het
Vipr1 T C 9: 121,494,586 (GRCm39) L308S possibly damaging Het
Xdh T G 17: 74,198,107 (GRCm39) K1260T probably damaging Het
Yipf4 A G 17: 74,800,963 (GRCm39) I94V probably benign Het
Zfhx4 A G 3: 5,478,206 (GRCm39) *3582W probably null Het
Zfp58 T C 13: 67,640,144 (GRCm39) N116D possibly damaging Het
Zfp750 C A 11: 121,402,819 (GRCm39) R643L probably benign Het
Znfx1 A G 2: 166,884,507 (GRCm39) V51A possibly damaging Het
Other mutations in Pla2g4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Pla2g4a APN 1 149,761,954 (GRCm39) missense probably benign 0.08
IGL00763:Pla2g4a APN 1 149,727,076 (GRCm39) missense probably damaging 1.00
IGL01548:Pla2g4a APN 1 149,808,407 (GRCm39) critical splice donor site probably null
IGL01683:Pla2g4a APN 1 149,733,405 (GRCm39) missense probably benign 0.05
IGL01903:Pla2g4a APN 1 149,716,370 (GRCm39) missense possibly damaging 0.51
IGL02049:Pla2g4a APN 1 149,736,847 (GRCm39) missense probably benign 0.12
IGL02103:Pla2g4a APN 1 149,776,950 (GRCm39) missense probably damaging 0.99
IGL03132:Pla2g4a APN 1 149,778,035 (GRCm39) splice site probably benign
IGL03299:Pla2g4a APN 1 149,727,118 (GRCm39) missense probably damaging 1.00
IGL03302:Pla2g4a APN 1 149,740,698 (GRCm39) missense probably benign 0.00
R0110:Pla2g4a UTSW 1 149,716,398 (GRCm39) missense possibly damaging 0.67
R0469:Pla2g4a UTSW 1 149,716,398 (GRCm39) missense possibly damaging 0.67
R0488:Pla2g4a UTSW 1 149,747,196 (GRCm39) missense probably damaging 1.00
R0606:Pla2g4a UTSW 1 149,716,455 (GRCm39) missense probably benign 0.44
R1468:Pla2g4a UTSW 1 149,763,344 (GRCm39) splice site probably benign
R1470:Pla2g4a UTSW 1 149,716,471 (GRCm39) missense probably damaging 1.00
R1521:Pla2g4a UTSW 1 149,733,437 (GRCm39) critical splice acceptor site probably null
R1718:Pla2g4a UTSW 1 149,747,274 (GRCm39) splice site probably benign
R1778:Pla2g4a UTSW 1 149,778,196 (GRCm39) splice site probably benign
R1967:Pla2g4a UTSW 1 149,797,832 (GRCm39) missense probably damaging 1.00
R2063:Pla2g4a UTSW 1 149,716,427 (GRCm39) missense possibly damaging 0.94
R2291:Pla2g4a UTSW 1 149,776,940 (GRCm39) missense probably damaging 1.00
R3855:Pla2g4a UTSW 1 149,705,928 (GRCm39) missense possibly damaging 0.86
R4512:Pla2g4a UTSW 1 149,736,802 (GRCm39) splice site probably null
R4568:Pla2g4a UTSW 1 149,717,977 (GRCm39) missense probably benign 0.43
R5266:Pla2g4a UTSW 1 149,740,918 (GRCm39) missense possibly damaging 0.79
R5855:Pla2g4a UTSW 1 149,755,814 (GRCm39) missense probably damaging 0.99
R5897:Pla2g4a UTSW 1 149,740,899 (GRCm39) missense probably damaging 0.99
R6012:Pla2g4a UTSW 1 149,808,428 (GRCm39) missense possibly damaging 0.55
R6193:Pla2g4a UTSW 1 149,778,181 (GRCm39) missense probably damaging 1.00
R6246:Pla2g4a UTSW 1 149,748,338 (GRCm39) missense probably damaging 1.00
R6248:Pla2g4a UTSW 1 149,748,338 (GRCm39) missense probably damaging 1.00
R6258:Pla2g4a UTSW 1 149,733,238 (GRCm39) missense probably benign 0.00
R6260:Pla2g4a UTSW 1 149,733,238 (GRCm39) missense probably benign 0.00
R6293:Pla2g4a UTSW 1 149,755,798 (GRCm39) missense probably damaging 0.98
R6310:Pla2g4a UTSW 1 149,717,977 (GRCm39) missense possibly damaging 0.88
R6490:Pla2g4a UTSW 1 149,727,086 (GRCm39) nonsense probably null
R6502:Pla2g4a UTSW 1 149,748,367 (GRCm39) nonsense probably null
R6614:Pla2g4a UTSW 1 149,717,986 (GRCm39) missense probably benign 0.07
R6671:Pla2g4a UTSW 1 149,763,382 (GRCm39) missense probably benign
R6745:Pla2g4a UTSW 1 149,761,981 (GRCm39) missense probably benign 0.07
R6880:Pla2g4a UTSW 1 149,727,202 (GRCm39) missense possibly damaging 0.90
R7058:Pla2g4a UTSW 1 149,727,103 (GRCm39) missense probably damaging 1.00
R7163:Pla2g4a UTSW 1 149,716,416 (GRCm39) nonsense probably null
R7422:Pla2g4a UTSW 1 149,808,438 (GRCm39) missense probably benign 0.32
R7454:Pla2g4a UTSW 1 149,748,441 (GRCm39) missense possibly damaging 0.63
R7474:Pla2g4a UTSW 1 149,740,951 (GRCm39) missense possibly damaging 0.88
R7514:Pla2g4a UTSW 1 149,727,113 (GRCm39) missense probably damaging 1.00
R7536:Pla2g4a UTSW 1 149,755,768 (GRCm39) missense probably damaging 1.00
R7682:Pla2g4a UTSW 1 149,762,022 (GRCm39) missense probably damaging 1.00
R7744:Pla2g4a UTSW 1 149,736,853 (GRCm39) missense probably benign 0.06
R7766:Pla2g4a UTSW 1 149,736,809 (GRCm39) missense probably benign 0.00
R7783:Pla2g4a UTSW 1 149,748,495 (GRCm39) missense probably damaging 1.00
R8031:Pla2g4a UTSW 1 149,776,964 (GRCm39) missense possibly damaging 0.87
R8145:Pla2g4a UTSW 1 149,716,394 (GRCm39) missense probably benign 0.42
R8189:Pla2g4a UTSW 1 149,733,337 (GRCm39) missense probably benign 0.04
R8252:Pla2g4a UTSW 1 149,727,058 (GRCm39) missense probably damaging 1.00
R8315:Pla2g4a UTSW 1 149,761,965 (GRCm39) missense probably benign 0.02
R8762:Pla2g4a UTSW 1 149,761,935 (GRCm39) missense probably benign 0.00
R8783:Pla2g4a UTSW 1 149,740,741 (GRCm39) missense probably damaging 1.00
R8838:Pla2g4a UTSW 1 149,747,256 (GRCm39) missense probably benign 0.00
R9132:Pla2g4a UTSW 1 149,747,230 (GRCm39) missense probably benign 0.01
R9282:Pla2g4a UTSW 1 149,747,207 (GRCm39) missense probably damaging 1.00
R9412:Pla2g4a UTSW 1 149,755,772 (GRCm39) missense probably damaging 0.99
X0021:Pla2g4a UTSW 1 149,740,677 (GRCm39) missense possibly damaging 0.66
Z1177:Pla2g4a UTSW 1 149,747,185 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCACCTCAGAGCCATATCTGTC -3'
(R):5'- ACGGAAGCTGGGTATCTTCCCAAC -3'

Sequencing Primer
(F):5'- CAGAGCCATATCTGTCTTCTTAATG -3'
(R):5'- TGGAGTAATTTTTTAGAATCACAGGC -3'
Posted On 2014-03-28