Incidental Mutation 'IGL02541:Pals2'
| ID |
298245 |
| 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 # |
IGL02541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50160707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 323
(I323V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000166318]
[ENSMUST00000167628]
[ENSMUST00000204545]
|
| AlphaFold |
Q9JLB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036225
AA Change: I337V
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: I337V
| 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: I323V
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: I323V
| 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: ENSMUST00000166318
AA Change: I337V
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: I337V
| 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: ENSMUST00000167628
|
| SMART Domains |
Protein: ENSMUSP00000129355
Gene: ENSMUSG00000038388
| 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: ENSMUST00000204545
AA Change: I323V
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: I323V
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,566,265 (GRCm39) |
V406D |
probably damaging |
Het |
| Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
| Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
| Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
| Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
| Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
| Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
| Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
| Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,120,988 (GRCm39) |
I356T |
probably benign |
Het |
| Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
| Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
| Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,642,186 (GRCm39) |
R619Q |
probably benign |
Het |
| Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
| Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
| Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
| Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
| Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
| Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
| Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
| Rad17 |
A |
G |
13: 100,769,951 (GRCm39) |
|
probably benign |
Het |
| Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
| Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
| Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
| Supt6 |
G |
A |
11: 78,117,744 (GRCm39) |
R491C |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
| Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
| Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
| Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
| Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
| Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
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 |
|
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 |
2015-04-16 |
Incidental Mutation