Incidental Mutation 'IGL00944:Pals2'
ID |
27650 |
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 # |
IGL00944
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50140436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000166318]
[ENSMUST00000167628]
[ENSMUST00000171601]
[ENSMUST00000204545]
|
AlphaFold |
Q9JLB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036225
AA Change: V152A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038772 Gene: ENSMUSG00000038388 AA Change: V152A
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 |
possibly damaging
Transcript: ENSMUST00000036236
AA Change: V152A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000039314 Gene: ENSMUSG00000038388 AA Change: V152A
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 |
possibly damaging
Transcript: ENSMUST00000166318
AA Change: V152A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125880 Gene: ENSMUSG00000038388 AA Change: V152A
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 |
possibly damaging
Transcript: ENSMUST00000167628
AA Change: V152A
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129355 Gene: ENSMUSG00000038388 AA Change: V152A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171601
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204545
AA Change: V152A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144737 Gene: ENSMUSG00000038388 AA Change: V152A
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
Other mutations in Pals2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Pals2
|
APN |
6 |
50,173,569 (GRCm39) |
missense |
probably benign |
0.26 |
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 |
2013-04-17 |