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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |