Incidental Mutation 'R0514:Plch2'
ID 48090
Institutional Source Beutler Lab
Gene Symbol Plch2
Ensembl Gene ENSMUSG00000029055
Gene Name phospholipase C, eta 2
Synonyms PLCeta2, Plcl4, A930027K05Rik
MMRRC Submission 038708-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0514 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155067572-155141241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155083343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 431 (S431P)
Ref Sequence ENSEMBL: ENSMUSP00000134750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105631] [ENSMUST00000135665] [ENSMUST00000139976] [ENSMUST00000145662] [ENSMUST00000176194] [ENSMUST00000186598]
AlphaFold A2AP18
Predicted Effect probably damaging
Transcript: ENSMUST00000105631
AA Change: S532P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: S532P

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 noncoding transcript
Transcript: ENSMUST00000127661
Predicted Effect probably damaging
Transcript: ENSMUST00000135665
AA Change: S427P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: S427P

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: S532P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: S532P

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 probably damaging
Transcript: ENSMUST00000145662
AA Change: S456P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: S456P

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 damaging
Transcript: ENSMUST00000175982
AA Change: S316P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000176194
AA Change: S431P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: S431P

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,197,177 (GRCm39) Y154F probably damaging Het
Acsl6 A T 11: 54,241,406 (GRCm39) D579V probably damaging Het
Adamts18 C T 8: 114,465,401 (GRCm39) probably null Het
Adamts20 A T 15: 94,168,257 (GRCm39) V1882D probably damaging Het
Add3 A T 19: 53,225,274 (GRCm39) K465* probably null Het
Ago1 T G 4: 126,333,388 (GRCm39) I524L probably benign Het
Akr1c18 A G 13: 4,187,190 (GRCm39) M208T probably benign Het
Anapc1 C A 2: 128,474,575 (GRCm39) L1413F probably damaging Het
Arid4b A T 13: 14,358,902 (GRCm39) D646V probably damaging Het
Arnt2 T C 7: 83,954,067 (GRCm39) E261G probably benign Het
Bccip C T 7: 133,320,859 (GRCm39) T211I possibly damaging Het
Bsn T C 9: 108,002,981 (GRCm39) S475G probably benign Het
Cdh26 G A 2: 178,108,621 (GRCm39) probably null Het
Ceacam2 A G 7: 25,220,356 (GRCm39) F414S probably benign Het
Cep43 A G 17: 8,410,266 (GRCm39) N342S possibly damaging Het
Cfb T C 17: 35,079,874 (GRCm39) R172G probably damaging Het
Cntnap5b A C 1: 99,700,511 (GRCm39) T8P probably benign Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crtc1 A T 8: 70,855,079 (GRCm39) probably null Het
Dcdc2a A T 13: 25,303,369 (GRCm39) H300L probably benign Het
Dhdh C T 7: 45,138,130 (GRCm39) V20M probably benign Het
Dhx34 T C 7: 15,944,462 (GRCm39) Q584R probably benign Het
Dis3l2 A G 1: 86,974,814 (GRCm39) Y701C probably damaging Het
Dmrt2 T C 19: 25,653,019 (GRCm39) probably null Het
Dnah5 A G 15: 28,366,467 (GRCm39) T2727A probably damaging Het
Dop1a A G 9: 86,402,787 (GRCm39) E1329G probably damaging Het
Evpl A G 11: 116,114,117 (GRCm39) V1191A probably damaging Het
Fhl4 T C 10: 84,934,250 (GRCm39) D177G probably damaging Het
Gask1a A G 9: 121,807,418 (GRCm39) T521A possibly damaging Het
Heg1 A G 16: 33,547,126 (GRCm39) T662A possibly damaging Het
Ifih1 A G 2: 62,453,735 (GRCm39) probably null Het
Il13 T C 11: 53,523,345 (GRCm39) R87G possibly damaging Het
Kcnc3 T A 7: 44,245,352 (GRCm39) Y547* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,071,693 (GRCm39) G860D probably benign Het
Lmo7 T C 14: 102,124,609 (GRCm39) L356P probably damaging Het
Lmo7 A T 14: 102,133,995 (GRCm39) K447I probably damaging Het
Lrp2bp A G 8: 46,464,995 (GRCm39) H38R probably damaging Het
Magi3 G A 3: 103,922,338 (GRCm39) P1460S probably damaging Het
Megf8 T A 7: 25,063,728 (GRCm39) C2695S possibly damaging Het
Mrgprb2 T G 7: 48,201,718 (GRCm39) S336R probably benign Het
Mrgprx2 C T 7: 48,132,712 (GRCm39) M1I probably null Het
Mug2 T C 6: 122,058,558 (GRCm39) L1320P probably damaging Het
Noxred1 A G 12: 87,273,838 (GRCm39) S68P probably benign Het
Or51f5 T A 7: 102,424,539 (GRCm39) H269Q probably benign Het
Or56b1b T A 7: 108,164,879 (GRCm39) Y41F probably damaging Het
Os9 C T 10: 126,955,508 (GRCm39) C123Y probably damaging Het
Ostf1 T A 19: 18,573,723 (GRCm39) T42S probably benign Het
Parg C A 14: 31,976,517 (GRCm39) T186K possibly damaging Het
Pcnx1 T A 12: 82,041,884 (GRCm39) M2172K probably benign Het
Pip4k2a A G 2: 18,850,747 (GRCm39) I360T probably damaging Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Prl8a6 A T 13: 27,616,990 (GRCm39) C233* probably null Het
Prox1 G A 1: 189,893,653 (GRCm39) T264I probably damaging Het
Prr5 A G 15: 84,586,967 (GRCm39) N248S probably benign Het
Psip1 A C 4: 83,378,274 (GRCm39) S407R probably damaging Het
Rab32 A T 10: 10,426,640 (GRCm39) V102E probably damaging Het
Rap1gap2 T G 11: 74,279,680 (GRCm39) K687Q possibly damaging Het
Rbak A T 5: 143,159,169 (GRCm39) V628E probably damaging Het
Rnf148 T C 6: 23,654,792 (GRCm39) E68G possibly damaging Het
Rnf212 A T 5: 108,897,308 (GRCm39) S3T probably damaging Het
Rrad T G 8: 105,355,259 (GRCm39) I250L probably benign Het
Sall4 T C 2: 168,597,625 (GRCm39) H405R probably damaging Het
Scn9a T C 2: 66,314,022 (GRCm39) R1888G probably damaging Het
Setd5 G T 6: 113,096,398 (GRCm39) E535* probably null Het
Slc20a1 C T 2: 129,041,811 (GRCm39) S58L probably damaging Het
Slc31a1 A G 4: 62,303,841 (GRCm39) probably benign Het
Slc38a11 G T 2: 65,147,209 (GRCm39) Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 (GRCm39) T38S possibly damaging Het
Taar4 A G 10: 23,836,780 (GRCm39) D130G probably damaging Het
Tfb2m C T 1: 179,358,869 (GRCm39) R338H probably benign Het
Tm2d2 A G 8: 25,512,742 (GRCm39) I197V possibly damaging Het
Tmem132a C T 19: 10,836,355 (GRCm39) G725D probably damaging Het
Tmem67 T C 4: 12,089,317 (GRCm39) T38A probably benign Het
Tmprss15 A T 16: 78,765,155 (GRCm39) S816T probably benign Het
Tnfrsf11a A G 1: 105,754,717 (GRCm39) E263G probably damaging Het
Tnfrsf17 C T 16: 11,133,191 (GRCm39) L90F probably benign Het
Tpr A G 1: 150,278,024 (GRCm39) K117E possibly damaging Het
Trim43a C T 9: 88,466,389 (GRCm39) Q5* probably null Het
Ubn1 A T 16: 4,890,935 (GRCm39) D498V probably damaging Het
Vipr1 T A 9: 121,487,115 (GRCm39) C63S probably damaging Het
Vmn1r237 T A 17: 21,534,932 (GRCm39) H218Q possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r95 T C 17: 18,671,844 (GRCm39) V527A probably benign Het
Vmn2r97 A T 17: 19,134,734 (GRCm39) T51S probably benign Het
Vwa8 G A 14: 79,184,629 (GRCm39) V376I probably benign Het
Wdfy4 T A 14: 32,802,732 (GRCm39) T1838S probably benign Het
Zcwpw1 A T 5: 137,794,945 (GRCm39) E47V probably benign Het
Zeb2 T C 2: 44,892,659 (GRCm39) E130G possibly damaging Het
Zfp111 A G 7: 23,898,568 (GRCm39) Y348H probably damaging Het
Zfp53 T C 17: 21,729,271 (GRCm39) S435P probably damaging 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
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
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'- GCACTGTCCTCATCAGATACTTCGC -3'
(R):5'- CACAGTCAATGGTACAGATGGCCTG -3'

Sequencing Primer
(F):5'- TCTTGGAACTCCAGGCCAC -3'
(R):5'- GGTACAGATGGCCTGTATACCTAC -3'
Posted On 2013-06-12