Incidental Mutation 'IGL00809:Pals2'
ID |
12072 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pals2
|
Ensembl Gene |
ENSMUSG00000038388 |
Gene Name |
protein associated with LIN7 2, MAGUK family member |
Synonyms |
P55t, Pals2, Mpp6 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00809
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50173569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 478
(R478C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000166318]
[ENSMUST00000204545]
|
AlphaFold |
Q9JLB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036225
AA Change: R478C
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038772 Gene: ENSMUSG00000038388 AA Change: R478C
Domain | Start | End | E-Value | Type |
L27
|
1 |
55 |
1.08e-9 |
SMART |
L27
|
56 |
110 |
7.05e-14 |
SMART |
PDZ
|
138 |
208 |
1.45e-11 |
SMART |
SH3
|
231 |
296 |
7.52e-12 |
SMART |
GuKc
|
350 |
541 |
8.92e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036236
AA Change: R464C
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000039314 Gene: ENSMUSG00000038388 AA Change: R464C
Domain | Start | End | E-Value | Type |
L27
|
1 |
55 |
1.08e-9 |
SMART |
L27
|
56 |
110 |
7.05e-14 |
SMART |
PDZ
|
138 |
208 |
1.45e-11 |
SMART |
SH3
|
217 |
282 |
7.52e-12 |
SMART |
GuKc
|
336 |
527 |
8.92e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101405
|
SMART Domains |
Protein: ENSMUSP00000098952 Gene: ENSMUSG00000029821
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165099
|
SMART Domains |
Protein: ENSMUSP00000130522 Gene: ENSMUSG00000029821
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166318
AA Change: R478C
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125880 Gene: ENSMUSG00000038388 AA Change: R478C
Domain | Start | End | E-Value | Type |
L27
|
1 |
55 |
1.08e-9 |
SMART |
L27
|
56 |
110 |
7.05e-14 |
SMART |
PDZ
|
138 |
208 |
1.45e-11 |
SMART |
SH3
|
231 |
296 |
7.52e-12 |
SMART |
GuKc
|
350 |
541 |
8.92e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167063
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204545
AA Change: R464C
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144737 Gene: ENSMUSG00000038388 AA Change: R464C
Domain | Start | End | E-Value | Type |
L27
|
1 |
55 |
1.08e-9 |
SMART |
L27
|
56 |
110 |
7.05e-14 |
SMART |
PDZ
|
138 |
208 |
1.45e-11 |
SMART |
SH3
|
217 |
282 |
7.52e-12 |
SMART |
GuKc
|
336 |
527 |
8.92e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204417
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
Other mutations in Pals2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Pals2
|
APN |
6 |
50,140,436 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL01576:Pals2
|
APN |
6 |
50,140,472 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01639:Pals2
|
APN |
6 |
50,155,460 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02541:Pals2
|
APN |
6 |
50,160,707 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02668:Pals2
|
APN |
6 |
50,171,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R1033:Pals2
|
UTSW |
6 |
50,160,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1066:Pals2
|
UTSW |
6 |
50,122,847 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1542:Pals2
|
UTSW |
6 |
50,175,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Pals2
|
UTSW |
6 |
50,173,525 (GRCm39) |
missense |
probably damaging |
0.97 |
R1817:Pals2
|
UTSW |
6 |
50,140,411 (GRCm39) |
missense |
probably benign |
0.06 |
R1818:Pals2
|
UTSW |
6 |
50,140,411 (GRCm39) |
missense |
probably benign |
0.06 |
R4410:Pals2
|
UTSW |
6 |
50,175,248 (GRCm39) |
nonsense |
probably null |
|
R5162:Pals2
|
UTSW |
6 |
50,155,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Pals2
|
UTSW |
6 |
50,157,159 (GRCm39) |
missense |
probably benign |
0.11 |
R6182:Pals2
|
UTSW |
6 |
50,175,206 (GRCm39) |
missense |
probably benign |
|
R6500:Pals2
|
UTSW |
6 |
50,175,146 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6762:Pals2
|
UTSW |
6 |
50,157,418 (GRCm39) |
splice site |
probably null |
|
R6888:Pals2
|
UTSW |
6 |
50,157,257 (GRCm39) |
critical splice donor site |
probably null |
|
R6963:Pals2
|
UTSW |
6 |
50,140,635 (GRCm39) |
splice site |
probably null |
|
R7002:Pals2
|
UTSW |
6 |
50,139,642 (GRCm39) |
missense |
probably benign |
|
R7629:Pals2
|
UTSW |
6 |
50,173,603 (GRCm39) |
missense |
probably benign |
0.07 |
R8159:Pals2
|
UTSW |
6 |
50,171,527 (GRCm39) |
missense |
probably benign |
0.00 |
R9190:Pals2
|
UTSW |
6 |
50,157,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9266:Pals2
|
UTSW |
6 |
50,140,463 (GRCm39) |
missense |
probably benign |
0.07 |
R9604:Pals2
|
UTSW |
6 |
50,173,597 (GRCm39) |
missense |
probably benign |
0.11 |
X0027:Pals2
|
UTSW |
6 |
50,140,511 (GRCm39) |
missense |
probably benign |
0.42 |
|
Posted On |
2012-12-06 |