Incidental Mutation 'R0149:Plagl2'
ID 22697
Institutional Source Beutler Lab
Gene Symbol Plagl2
Ensembl Gene ENSMUSG00000051413
Gene Name pleiomorphic adenoma gene-like 2
Synonyms
MMRRC Submission 038433-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0149 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 153069689-153083278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153073523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 459 (D459E)
Ref Sequence ENSEMBL: ENSMUSP00000105419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056924] [ENSMUST00000109795]
AlphaFold Q925T4
Predicted Effect probably benign
Transcript: ENSMUST00000056924
AA Change: D459E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413
AA Change: D459E

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 benign
Transcript: ENSMUST00000109795
AA Change: D459E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413
AA Change: D459E

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
Meta Mutation Damage Score 0.0679 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (84/87)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A C 8: 12,330,000 (GRCm39) S152R unknown Het
Acsbg2 A G 17: 57,160,924 (GRCm39) probably benign Het
Adam6a G T 12: 113,509,369 (GRCm39) V581F probably damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Aldh1l1 A G 6: 90,566,396 (GRCm39) K656E possibly 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
Ascc3 A T 10: 50,484,089 (GRCm39) N55I probably benign 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
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Clk1 T A 1: 58,453,760 (GRCm39) N305Y probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Cyp2d26 A G 15: 82,676,968 (GRCm39) L152P probably damaging Het
Dmtf1 A G 5: 9,182,571 (GRCm39) S188P probably damaging Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dscaml1 T G 9: 45,653,978 (GRCm39) Y1418* probably null Het
Efemp2 A T 19: 5,527,988 (GRCm39) H107L probably damaging Het
Eng T C 2: 32,562,397 (GRCm39) probably null Het
Erc1 A T 6: 119,801,791 (GRCm39) S75R probably damaging Het
Fgl2 A T 5: 21,580,783 (GRCm39) D375V probably damaging Het
Fpr-rs6 T C 17: 20,402,475 (GRCm39) I295M probably benign Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging 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
Gmcl1 A T 6: 86,709,891 (GRCm39) probably null Het
Has1 T C 17: 18,070,433 (GRCm39) T163A probably damaging Het
Hmcn1 A T 1: 150,553,075 (GRCm39) N2538K probably benign Het
Itga2 A G 13: 114,973,115 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kcnk4 T C 19: 6,903,562 (GRCm39) E329G probably benign Het
Kcnt1 T C 2: 25,788,276 (GRCm39) probably benign Het
Klkb1 A G 8: 45,729,100 (GRCm39) C375R probably damaging Het
Loxl2 C A 14: 69,930,527 (GRCm39) H764N probably benign 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
Magi1 A T 6: 93,724,226 (GRCm39) I263N probably damaging Het
Map4 C T 9: 109,896,692 (GRCm39) P641L probably damaging Het
Mars1 A T 10: 127,135,903 (GRCm39) N558K probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mgat5b A G 11: 116,875,965 (GRCm39) probably benign Het
Mki67 A T 7: 135,300,153 (GRCm39) V1627D probably benign Het
Mtnr1a A T 8: 45,522,352 (GRCm39) I36F probably benign 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
Ngf T A 3: 102,427,762 (GRCm39) H174Q 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
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Or8g21 T A 9: 38,905,880 (GRCm39) M284L probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
P4ha1 A G 10: 59,184,221 (GRCm39) T228A probably damaging Het
Pip5kl1 T C 2: 32,468,966 (GRCm39) V195A possibly damaging Het
Plxna1 T C 6: 89,297,595 (GRCm39) E1863G probably null Het
Prdm10 T G 9: 31,227,455 (GRCm39) probably benign Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Rgs1 T C 1: 144,124,825 (GRCm39) probably benign Het
Rgsl1 A G 1: 153,669,510 (GRCm39) F292S probably 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
Rsph10b T A 5: 143,875,727 (GRCm39) probably benign Het
Rwdd4a A G 8: 47,997,255 (GRCm39) D158G probably null Het
Sdk1 T C 5: 141,842,809 (GRCm39) probably benign Het
Serpina3n A C 12: 104,377,635 (GRCm39) K296T probably benign Het
Slco1a8 T C 6: 141,938,203 (GRCm39) T239A probably benign Het
Snw1 A G 12: 87,508,687 (GRCm39) V124A possibly damaging Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmc6 G A 11: 117,660,274 (GRCm39) L655F probably damaging 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
Tsc1 T C 2: 28,560,913 (GRCm39) I257T probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Unc80 T A 1: 66,560,760 (GRCm39) N829K possibly damaging Het
Vmn1r235 A C 17: 21,482,257 (GRCm39) D194A probably damaging Het
Vmn2r100 A T 17: 19,741,509 (GRCm39) probably null Het
Ylpm1 G T 12: 85,075,612 (GRCm39) R321L probably damaging Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging 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 Plagl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Plagl2 APN 2 153,074,574 (GRCm39) missense probably damaging 1.00
IGL02655:Plagl2 APN 2 153,074,337 (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
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
Predicted Primers PCR Primer
(F):5'- AATTGATCCTGGAGCCTGAACCCC -3'
(R):5'- GCGCTGCTAATGTGGACTTTTCCC -3'

Sequencing Primer
(F):5'- TTTTGAACCCAGCTCTGAAAGC -3'
(R):5'- TAATGTGGACTTTTCCCACTTACTGG -3'
Posted On 2013-04-16