Incidental Mutation 'R0361:Plch2'
ID 30092
Institutional Source Beutler Lab
Gene Symbol Plch2
Ensembl Gene ENSMUSG00000029055
Gene Name phospholipase C, eta 2
Synonyms PLCeta2, Plcl4, A930027K05Rik
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155067572-155141241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155091168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 148 (D148G)
Ref Sequence ENSEMBL: ENSMUSP00000118292 (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: D253G

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: D253G

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: D148G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: D148G

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 possibly damaging
Transcript: ENSMUST00000139976
AA Change: D253G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: D253G

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: D177G

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: D177G

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 probably benign
Transcript: ENSMUST00000176194
AA Change: D152G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: D152G

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 unknown
Transcript: ENSMUST00000175982
AA Change: D37G
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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Plch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Plch2 APN 4 155,091,099 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAAGTCCCTGGATACCTACCCTGTG -3'
(R):5'- ATCAGCGATGAAGACAGCCTAGCC -3'

Sequencing Primer
(F):5'- ATACCTACCCTGTGAGGTGAC -3'
(R):5'- GGGACCAATATCCTTAGGCTC -3'
Posted On 2013-04-24