Incidental Mutation 'IGL02655:Plagl2'
ID 302310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plagl2
Ensembl Gene ENSMUSG00000051413
Gene Name pleiomorphic adenoma gene-like 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02655
Quality Score
Status
Chromosome 2
Chromosomal Location 153069689-153083278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153074337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 188 (E188G)
Ref Sequence ENSEMBL: ENSMUSP00000105419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056924] [ENSMUST00000109795]
AlphaFold Q925T4
Predicted Effect probably damaging
Transcript: ENSMUST00000056924
AA Change: E188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413
AA Change: E188G

DomainStartEndE-ValueType
ZnF_C2H2 68 92 5.99e-4 SMART
ZnF_C2H2 98 120 1.03e-2 SMART
ZnF_C2H2 127 149 1.36e-2 SMART
ZnF_C2H2 156 178 6.23e-2 SMART
ZnF_C2H2 191 213 1.26e-2 SMART
ZnF_C2H2 219 242 3.11e-2 SMART
low complexity region 324 340 N/A INTRINSIC
low complexity region 369 397 N/A INTRINSIC
low complexity region 417 432 N/A INTRINSIC
low complexity region 443 458 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109795
AA Change: E188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413
AA Change: E188G

DomainStartEndE-ValueType
ZnF_C2H2 68 92 5.99e-4 SMART
ZnF_C2H2 98 120 1.03e-2 SMART
ZnF_C2H2 127 149 1.36e-2 SMART
ZnF_C2H2 156 178 6.23e-2 SMART
ZnF_C2H2 191 213 1.26e-2 SMART
ZnF_C2H2 219 242 3.11e-2 SMART
low complexity region 324 340 N/A INTRINSIC
low complexity region 369 397 N/A INTRINSIC
low complexity region 417 432 N/A INTRINSIC
low complexity region 443 458 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.] Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal death due to a failure to absorb lipids in the intestine and other organs. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,498 (GRCm39) S68T possibly damaging Het
4930544G11Rik T G 6: 65,930,074 (GRCm39) V103G probably damaging Het
Adam7 A T 14: 68,754,060 (GRCm39) D346E probably damaging Het
Adamts1 A G 16: 85,599,505 (GRCm39) S32P probably benign Het
Adamtsl2 T C 2: 26,972,542 (GRCm39) probably benign Het
Adgrb2 C A 4: 129,885,972 (GRCm39) Y37* probably null Het
Apba3 A G 10: 81,108,788 (GRCm39) R547G probably benign Het
Ccnd2 C T 6: 127,125,733 (GRCm39) G101D probably damaging Het
Cpm A G 10: 117,519,186 (GRCm39) T365A probably benign Het
Cpt2 A G 4: 107,764,624 (GRCm39) V380A probably damaging Het
Dnah7b A T 1: 46,155,461 (GRCm39) probably benign Het
Enpp1 A C 10: 24,553,872 (GRCm39) D105E probably damaging Het
Ermp1 C A 19: 29,623,610 (GRCm39) E127* probably null Het
Evi5 T C 5: 107,961,446 (GRCm39) K375R probably benign Het
Gm11564 A T 11: 99,705,982 (GRCm39) C149* probably null Het
Golgb1 A T 16: 36,738,442 (GRCm39) E2260D probably damaging Het
Gpc2 T C 5: 138,277,187 (GRCm39) D80G possibly damaging Het
Hsd11b2 A G 8: 106,248,960 (GRCm39) I151V probably benign Het
Knl1 T C 2: 118,901,473 (GRCm39) I1058T possibly damaging Het
Krtap4-8 A T 11: 99,671,454 (GRCm39) probably benign Het
Me1 A G 9: 86,536,780 (GRCm39) probably benign Het
Mki67 C T 7: 135,315,748 (GRCm39) R38H probably damaging Het
Nsmaf A G 4: 6,424,933 (GRCm39) F272L possibly damaging Het
Pcyox1 A T 6: 86,366,326 (GRCm39) V78E probably damaging Het
Pkp1 G T 1: 135,817,511 (GRCm39) T208N probably benign Het
Pramel15 A G 4: 144,099,416 (GRCm39) F450L probably benign Het
Relch G A 1: 105,605,971 (GRCm39) V204M probably damaging Het
Ric1 T A 19: 29,572,851 (GRCm39) S764T probably damaging Het
Sec24a G A 11: 51,625,482 (GRCm39) T247M probably benign Het
Slc25a17 C T 15: 81,207,844 (GRCm39) R248Q probably benign Het
Stk36 C T 1: 74,673,694 (GRCm39) P1068S probably damaging Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Tfec C T 6: 16,834,308 (GRCm39) A200T possibly damaging Het
Vmn2r4 A G 3: 64,305,886 (GRCm39) I512T probably damaging Het
Other mutations in Plagl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Plagl2 APN 2 153,074,574 (GRCm39) missense probably damaging 1.00
IGL02927:Plagl2 APN 2 153,074,199 (GRCm39) missense probably damaging 1.00
8_ball UTSW 2 153,074,114 (GRCm39) nonsense probably null
1mM(1):Plagl2 UTSW 2 153,073,992 (GRCm39) missense probably benign 0.37
R0149:Plagl2 UTSW 2 153,073,523 (GRCm39) missense probably benign
R0361:Plagl2 UTSW 2 153,073,523 (GRCm39) missense probably benign
R0605:Plagl2 UTSW 2 153,077,864 (GRCm39) missense probably benign
R0624:Plagl2 UTSW 2 153,077,973 (GRCm39) missense probably benign
R0839:Plagl2 UTSW 2 153,074,461 (GRCm39) missense probably damaging 1.00
R1735:Plagl2 UTSW 2 153,074,397 (GRCm39) missense probably damaging 1.00
R5083:Plagl2 UTSW 2 153,077,964 (GRCm39) missense probably benign
R5213:Plagl2 UTSW 2 153,074,239 (GRCm39) missense probably damaging 1.00
R5327:Plagl2 UTSW 2 153,077,759 (GRCm39) missense possibly damaging 0.95
R5473:Plagl2 UTSW 2 153,074,114 (GRCm39) nonsense probably null
R6322:Plagl2 UTSW 2 153,073,806 (GRCm39) missense probably benign 0.11
R6334:Plagl2 UTSW 2 153,074,611 (GRCm39) missense probably benign 0.02
R6931:Plagl2 UTSW 2 153,077,863 (GRCm39) missense probably benign 0.07
R8223:Plagl2 UTSW 2 153,073,461 (GRCm39) missense probably benign 0.15
R8230:Plagl2 UTSW 2 153,074,239 (GRCm39) missense probably damaging 1.00
R8975:Plagl2 UTSW 2 153,074,346 (GRCm39) missense possibly damaging 0.95
R9151:Plagl2 UTSW 2 153,074,540 (GRCm39) missense probably damaging 1.00
R9385:Plagl2 UTSW 2 153,074,238 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16