Incidental Mutation 'IGL02668:Pals2'
ID |
302803 |
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 # |
IGL02668
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50171509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 386
(T386I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000165099]
[ENSMUST00000166318]
[ENSMUST00000204545]
|
AlphaFold |
Q9JLB0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036225
AA Change: T386I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038772 Gene: ENSMUSG00000038388 AA Change: T386I
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: T372I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039314 Gene: ENSMUSG00000038388 AA Change: T372I
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: ENSMUST00000165099
|
SMART Domains |
Protein: ENSMUSP00000130522 Gene: ENSMUSG00000029821
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166318
AA Change: T386I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125880 Gene: ENSMUSG00000038388 AA Change: T386I
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 |
noncoding transcript
Transcript: ENSMUST00000167319
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204545
AA Change: T372I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144737 Gene: ENSMUSG00000038388 AA Change: T372I
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: 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
A |
G |
14: 35,532,074 (GRCm39) |
M167T |
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,848,887 (GRCm39) |
S488R |
probably damaging |
Het |
Adprm |
G |
T |
11: 66,931,073 (GRCm39) |
D230E |
possibly damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bltp3a |
A |
C |
17: 28,105,549 (GRCm39) |
I692L |
possibly damaging |
Het |
Ccdc66 |
T |
C |
14: 27,219,298 (GRCm39) |
K309E |
possibly damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,417,371 (GRCm39) |
A127T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,168,030 (GRCm39) |
M357K |
possibly damaging |
Het |
Diras2 |
T |
C |
13: 52,661,806 (GRCm39) |
N167S |
probably benign |
Het |
Dmgdh |
T |
G |
13: 93,840,418 (GRCm39) |
V283G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,324,229 (GRCm39) |
W1052R |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,098,806 (GRCm39) |
V2083D |
possibly damaging |
Het |
Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
Exoc4 |
T |
G |
6: 33,898,467 (GRCm39) |
F895L |
probably benign |
Het |
Fsip1 |
G |
T |
2: 118,082,206 (GRCm39) |
A76E |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,828,662 (GRCm39) |
I6820V |
probably benign |
Het |
Hdac10 |
G |
A |
15: 89,009,847 (GRCm39) |
P395L |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,058 (GRCm39) |
D17G |
probably damaging |
Het |
Map3k4 |
A |
T |
17: 12,454,840 (GRCm39) |
F1383L |
possibly damaging |
Het |
Myct1 |
C |
A |
10: 5,554,513 (GRCm39) |
P127T |
probably damaging |
Het |
Or52s1 |
A |
T |
7: 102,861,942 (GRCm39) |
I281F |
possibly damaging |
Het |
Osbpl7 |
G |
T |
11: 96,958,031 (GRCm39) |
A625S |
possibly damaging |
Het |
Padi2 |
C |
T |
4: 140,677,191 (GRCm39) |
R660C |
probably benign |
Het |
Paip1 |
A |
T |
13: 119,574,607 (GRCm39) |
I185F |
probably damaging |
Het |
Phykpl |
G |
A |
11: 51,484,514 (GRCm39) |
|
probably null |
Het |
Plekhg6 |
G |
A |
6: 125,349,766 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,334,251 (GRCm39) |
L126* |
probably null |
Het |
Rchy1 |
A |
T |
5: 92,110,577 (GRCm39) |
M1K |
probably null |
Het |
Rfx3 |
T |
C |
19: 27,793,014 (GRCm39) |
|
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,738,267 (GRCm39) |
F182L |
probably damaging |
Het |
Sgpl1 |
A |
C |
10: 60,941,229 (GRCm39) |
V294G |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,071,646 (GRCm39) |
S180P |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,303,125 (GRCm39) |
D488G |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,682,027 (GRCm39) |
|
probably benign |
Het |
Sycp1 |
A |
C |
3: 102,727,847 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,925,081 (GRCm39) |
K347E |
possibly damaging |
Het |
Tnk1 |
A |
G |
11: 69,747,749 (GRCm39) |
M51T |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
Ubd |
G |
T |
17: 37,506,420 (GRCm39) |
R102L |
probably benign |
Het |
Vmn2r103 |
G |
T |
17: 20,014,389 (GRCm39) |
A394S |
probably benign |
Het |
Zfp324 |
T |
A |
7: 12,704,773 (GRCm39) |
C321S |
probably damaging |
Het |
Zfp488 |
G |
T |
14: 33,692,777 (GRCm39) |
Q129K |
probably benign |
Het |
Zmpste24 |
T |
A |
4: 120,918,297 (GRCm39) |
N442Y |
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 |
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 |
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 |
2015-04-16 |