Incidental Mutation 'IGL00088:Plch2'
ID 306489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plch2
Ensembl Gene ENSMUSG00000029055
Gene Name phospholipase C, eta 2
Synonyms PLCeta2, Plcl4, A930027K05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00088
Quality Score
Status
Chromosome 4
Chromosomal Location 155067572-155141241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155091099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 276 (N276S)
Ref Sequence ENSEMBL: ENSMUSP00000122704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105631] [ENSMUST00000126098] [ENSMUST00000131173] [ENSMUST00000135665] [ENSMUST00000139976] [ENSMUST00000145662] [ENSMUST00000176194] [ENSMUST00000186598]
AlphaFold A2AP18
Predicted Effect possibly damaging
Transcript: ENSMUST00000105631
AA Change: N276S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: N276S

DomainStartEndE-ValueType
low complexity region 28 45 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
PH 122 231 1.8e-6 SMART
EFh 247 275 7.29e-4 SMART
EFh 283 312 4.67e-2 SMART
Pfam:EF-hand_like 317 399 1.7e-26 PFAM
PLCXc 400 545 6.76e-76 SMART
low complexity region 559 572 N/A INTRINSIC
low complexity region 659 676 N/A INTRINSIC
PLCYc 707 821 1.25e-56 SMART
C2 840 948 1.66e-21 SMART
low complexity region 1088 1107 N/A INTRINSIC
low complexity region 1227 1236 N/A INTRINSIC
low complexity region 1356 1369 N/A INTRINSIC
low complexity region 1421 1451 N/A INTRINSIC
low complexity region 1454 1466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126098
SMART Domains Protein: ENSMUSP00000115440
Gene: ENSMUSG00000029055

DomainStartEndE-ValueType
SCOP:d1mai__ 39 58 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131173
SMART Domains Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055

DomainStartEndE-ValueType
Blast:PH 31 111 6e-49 BLAST
SCOP:d1mai__ 34 111 4e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135665
AA Change: N171S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: N171S

DomainStartEndE-ValueType
PH 17 126 1.8e-6 SMART
EFh 142 170 7.29e-4 SMART
EFh 178 207 4.67e-2 SMART
Pfam:EF-hand_like 212 294 2.8e-25 PFAM
PLCXc 295 440 6.76e-76 SMART
low complexity region 454 467 N/A INTRINSIC
low complexity region 554 571 N/A INTRINSIC
PLCYc 602 716 1.25e-56 SMART
C2 735 843 1.66e-21 SMART
low complexity region 983 1002 N/A INTRINSIC
low complexity region 1122 1131 N/A INTRINSIC
low complexity region 1251 1264 N/A INTRINSIC
low complexity region 1316 1346 N/A INTRINSIC
low complexity region 1349 1361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139976
AA Change: N276S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: N276S

DomainStartEndE-ValueType
low complexity region 28 45 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
PH 122 231 1.8e-6 SMART
EFh 247 275 7.29e-4 SMART
EFh 283 312 4.67e-2 SMART
Pfam:EF-hand_like 317 399 3.2e-27 PFAM
PLCXc 400 545 6.76e-76 SMART
low complexity region 559 572 N/A INTRINSIC
low complexity region 659 676 N/A INTRINSIC
PLCYc 707 821 1.25e-56 SMART
C2 840 948 1.66e-21 SMART
low complexity region 1087 1100 N/A INTRINSIC
low complexity region 1166 1194 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145662
AA Change: N200S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: N200S

DomainStartEndE-ValueType
PH 46 155 1.8e-6 SMART
EFh 171 199 7.29e-4 SMART
EFh 207 236 4.67e-2 SMART
Pfam:EF-hand_like 241 323 5.2e-27 PFAM
PLCXc 324 469 6.76e-76 SMART
low complexity region 483 496 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000175982
AA Change: N60S
Predicted Effect possibly damaging
Transcript: ENSMUST00000176194
AA Change: N175S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: N175S

DomainStartEndE-ValueType
PH 21 130 1.8e-6 SMART
EFh 146 174 7.29e-4 SMART
EFh 182 211 4.67e-2 SMART
Pfam:EF-hand_like 216 298 1.6e-25 PFAM
PLCXc 299 444 6.76e-76 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
PLCYc 606 720 1.25e-56 SMART
C2 739 847 1.66e-21 SMART
low complexity region 986 999 N/A INTRINSIC
low complexity region 1065 1093 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186598
SMART Domains Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055

DomainStartEndE-ValueType
C2 79 189 5.8e-18 SMART
low complexity region 328 341 N/A INTRINSIC
low complexity region 407 435 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Plch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Plch2 APN 4 155,127,595 (GRCm39) intron probably benign
IGL02580:Plch2 APN 4 155,069,221 (GRCm39) missense probably benign 0.03
IGL03370:Plch2 APN 4 155,071,371 (GRCm39) missense probably benign 0.18
IGL03407:Plch2 APN 4 155,074,255 (GRCm39) missense probably damaging 1.00
tolerant UTSW 4 155,069,092 (GRCm39) missense probably benign 0.01
PIT4418001:Plch2 UTSW 4 155,073,960 (GRCm39) missense probably damaging 1.00
PIT4445001:Plch2 UTSW 4 155,093,483 (GRCm39) missense probably damaging 1.00
R0117:Plch2 UTSW 4 155,069,815 (GRCm39) unclassified probably benign
R0347:Plch2 UTSW 4 155,071,178 (GRCm39) missense possibly damaging 0.91
R0361:Plch2 UTSW 4 155,091,168 (GRCm39) missense possibly damaging 0.95
R0413:Plch2 UTSW 4 155,091,373 (GRCm39) critical splice donor site probably null
R0487:Plch2 UTSW 4 155,093,469 (GRCm39) missense probably damaging 1.00
R0514:Plch2 UTSW 4 155,083,343 (GRCm39) missense probably damaging 1.00
R0734:Plch2 UTSW 4 155,080,740 (GRCm39) missense probably damaging 1.00
R0766:Plch2 UTSW 4 155,074,256 (GRCm39) missense probably damaging 1.00
R1306:Plch2 UTSW 4 155,091,597 (GRCm39) missense probably damaging 1.00
R1312:Plch2 UTSW 4 155,074,256 (GRCm39) missense probably damaging 1.00
R1467:Plch2 UTSW 4 155,068,189 (GRCm39) missense probably benign 0.02
R1467:Plch2 UTSW 4 155,068,189 (GRCm39) missense probably benign 0.02
R1602:Plch2 UTSW 4 155,068,907 (GRCm39) missense probably damaging 0.99
R1717:Plch2 UTSW 4 155,082,729 (GRCm39) missense probably benign
R1731:Plch2 UTSW 4 155,091,451 (GRCm39) missense possibly damaging 0.83
R1769:Plch2 UTSW 4 155,084,540 (GRCm39) missense probably damaging 1.00
R1875:Plch2 UTSW 4 155,082,965 (GRCm39) missense probably damaging 1.00
R1974:Plch2 UTSW 4 155,069,410 (GRCm39) missense possibly damaging 0.77
R2031:Plch2 UTSW 4 155,127,484 (GRCm39) intron probably benign
R2050:Plch2 UTSW 4 155,085,275 (GRCm39) missense probably benign 0.00
R2061:Plch2 UTSW 4 155,127,298 (GRCm39) intron probably benign
R2073:Plch2 UTSW 4 155,074,366 (GRCm39) missense probably damaging 1.00
R2075:Plch2 UTSW 4 155,074,366 (GRCm39) missense probably damaging 1.00
R2109:Plch2 UTSW 4 155,069,054 (GRCm39) missense possibly damaging 0.92
R2126:Plch2 UTSW 4 155,083,456 (GRCm39) missense probably damaging 1.00
R2265:Plch2 UTSW 4 155,077,461 (GRCm39) missense probably benign 0.06
R2266:Plch2 UTSW 4 155,077,461 (GRCm39) missense probably benign 0.06
R2269:Plch2 UTSW 4 155,077,461 (GRCm39) missense probably benign 0.06
R2280:Plch2 UTSW 4 155,068,766 (GRCm39) missense probably damaging 1.00
R2281:Plch2 UTSW 4 155,068,766 (GRCm39) missense probably damaging 1.00
R2432:Plch2 UTSW 4 155,070,621 (GRCm39) makesense probably null
R2971:Plch2 UTSW 4 155,075,224 (GRCm39) missense probably benign 0.29
R3437:Plch2 UTSW 4 155,075,470 (GRCm39) critical splice donor site probably null
R3980:Plch2 UTSW 4 155,069,255 (GRCm39) missense probably benign 0.00
R4757:Plch2 UTSW 4 155,080,690 (GRCm39) missense possibly damaging 0.88
R4827:Plch2 UTSW 4 155,075,570 (GRCm39) missense probably damaging 1.00
R4828:Plch2 UTSW 4 155,069,092 (GRCm39) missense probably benign 0.01
R4869:Plch2 UTSW 4 155,073,885 (GRCm39) missense probably benign 0.28
R5020:Plch2 UTSW 4 155,091,540 (GRCm39) missense probably damaging 1.00
R5050:Plch2 UTSW 4 155,127,766 (GRCm39) intron probably benign
R5126:Plch2 UTSW 4 155,084,976 (GRCm39) missense probably damaging 1.00
R5237:Plch2 UTSW 4 155,095,251 (GRCm39) missense probably benign
R5274:Plch2 UTSW 4 155,083,411 (GRCm39) missense probably damaging 1.00
R5296:Plch2 UTSW 4 155,074,456 (GRCm39) splice site probably null
R5324:Plch2 UTSW 4 155,068,991 (GRCm39) missense probably benign
R5475:Plch2 UTSW 4 155,084,594 (GRCm39) missense probably damaging 1.00
R5494:Plch2 UTSW 4 155,075,579 (GRCm39) missense probably damaging 1.00
R5811:Plch2 UTSW 4 155,077,024 (GRCm39) missense possibly damaging 0.62
R6083:Plch2 UTSW 4 155,085,275 (GRCm39) missense probably benign 0.00
R6092:Plch2 UTSW 4 155,068,829 (GRCm39) missense probably benign 0.02
R6253:Plch2 UTSW 4 155,091,558 (GRCm39) missense probably damaging 1.00
R6456:Plch2 UTSW 4 155,077,459 (GRCm39) missense probably damaging 1.00
R7038:Plch2 UTSW 4 155,074,489 (GRCm39) splice site probably null
R7084:Plch2 UTSW 4 155,071,448 (GRCm39) missense probably benign 0.31
R7210:Plch2 UTSW 4 155,093,543 (GRCm39) missense probably damaging 1.00
R7216:Plch2 UTSW 4 155,068,685 (GRCm39) missense probably benign
R7264:Plch2 UTSW 4 155,083,424 (GRCm39) missense probably damaging 0.98
R7291:Plch2 UTSW 4 155,082,929 (GRCm39) missense probably damaging 1.00
R7423:Plch2 UTSW 4 155,068,194 (GRCm39) missense probably damaging 1.00
R7436:Plch2 UTSW 4 155,068,553 (GRCm39) missense probably benign 0.01
R7438:Plch2 UTSW 4 155,084,917 (GRCm39) missense probably damaging 1.00
R7594:Plch2 UTSW 4 155,091,484 (GRCm39) missense probably damaging 1.00
R7663:Plch2 UTSW 4 155,075,619 (GRCm39) missense probably damaging 0.96
R7698:Plch2 UTSW 4 155,087,244 (GRCm39) missense possibly damaging 0.95
R7844:Plch2 UTSW 4 155,073,922 (GRCm39) missense probably damaging 1.00
R7939:Plch2 UTSW 4 155,087,235 (GRCm39) missense possibly damaging 0.91
R8003:Plch2 UTSW 4 155,138,980 (GRCm39) missense unknown
R8007:Plch2 UTSW 4 155,087,288 (GRCm39) missense probably damaging 1.00
R8281:Plch2 UTSW 4 155,091,430 (GRCm39) missense probably benign 0.07
R8434:Plch2 UTSW 4 155,074,192 (GRCm39) missense probably damaging 1.00
R8504:Plch2 UTSW 4 155,068,852 (GRCm39) missense probably benign 0.31
R8516:Plch2 UTSW 4 155,070,764 (GRCm39) missense probably benign
R8558:Plch2 UTSW 4 155,083,391 (GRCm39) missense probably damaging 1.00
R8722:Plch2 UTSW 4 155,069,860 (GRCm39) unclassified probably benign
R8768:Plch2 UTSW 4 155,083,324 (GRCm39) missense probably damaging 1.00
R8787:Plch2 UTSW 4 155,070,875 (GRCm39) missense probably benign 0.00
R8826:Plch2 UTSW 4 155,071,140 (GRCm39) missense probably benign 0.00
R8955:Plch2 UTSW 4 155,077,023 (GRCm39) missense probably benign 0.00
R9032:Plch2 UTSW 4 155,084,976 (GRCm39) missense probably damaging 1.00
R9085:Plch2 UTSW 4 155,084,976 (GRCm39) missense probably damaging 1.00
R9423:Plch2 UTSW 4 155,071,049 (GRCm39) missense
R9649:Plch2 UTSW 4 155,068,516 (GRCm39) missense probably benign
R9652:Plch2 UTSW 4 155,082,942 (GRCm39) missense probably benign
R9725:Plch2 UTSW 4 155,084,992 (GRCm39) missense probably damaging 1.00
R9742:Plch2 UTSW 4 155,082,912 (GRCm39) missense probably damaging 0.99
R9789:Plch2 UTSW 4 155,095,322 (GRCm39) critical splice donor site probably null
RF014:Plch2 UTSW 4 155,091,577 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16