Incidental Mutation 'IGL01639:Pals2'
| ID |
92938 |
| 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 # |
IGL01639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50155460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 261
(I261T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000166318]
[ENSMUST00000167628]
[ENSMUST00000204545]
|
| AlphaFold |
Q9JLB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036225
AA Change: I261T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: I261T
| 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 damaging
Transcript: ENSMUST00000036236
AA Change: I247T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: I247T
| 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 damaging
Transcript: ENSMUST00000166318
AA Change: I261T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: I261T
| 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 damaging
Transcript: ENSMUST00000167628
AA Change: I261T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129355
Gene: ENSMUSG00000038388
AA Change: I261T
| 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 damaging
Transcript: ENSMUST00000204545
AA Change: I247T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: I247T
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm4 |
T |
A |
13: 3,888,302 (GRCm39) |
V136E |
probably damaging |
Het |
| Cnot8 |
A |
T |
11: 58,002,188 (GRCm39) |
I74F |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,124,527 (GRCm39) |
V213D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,204 (GRCm39) |
T565A |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,770,825 (GRCm39) |
I155V |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,320 (GRCm39) |
N42S |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,159,976 (GRCm39) |
E381D |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,099 (GRCm39) |
I183V |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,914 (GRCm39) |
S109P |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,997,094 (GRCm39) |
|
probably null |
Het |
| Plekhg1 |
A |
G |
10: 3,906,751 (GRCm39) |
E556G |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,173,185 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,592,002 (GRCm39) |
R133* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,903 (GRCm39) |
S482P |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,678,738 (GRCm39) |
A68S |
possibly damaging |
Het |
| Tmc1 |
G |
A |
19: 20,793,556 (GRCm39) |
T535M |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,561,165 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,033,173 (GRCm39) |
V1711G |
possibly damaging |
Het |
| Ubr4 |
G |
T |
4: 139,144,655 (GRCm39) |
R1488L |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,225,141 (GRCm39) |
Y456* |
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,959,572 (GRCm39) |
S794G |
possibly damaging |
Het |
| Zeb2 |
C |
T |
2: 44,887,269 (GRCm39) |
S581N |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,809,048 (GRCm39) |
P1332L |
probably benign |
Het |
| Zfp641 |
A |
G |
15: 98,189,066 (GRCm39) |
I131T |
possibly 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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation