Incidental Mutation 'R9604:Pals2'
| ID |
723826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pals2
|
| Ensembl Gene |
ENSMUSG00000038388 |
| Gene Name |
protein associated with LIN7 2, MAGUK family member |
| Synonyms |
P55t, Pals2, Mpp6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 50173597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 487
(A487E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038772
(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: A487E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: A487E
| 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: A473E
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: A473E
| 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: A487E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: A487E
| 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: ENSMUST00000204545
AA Change: A473E
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: A473E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
| Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,555,477 (GRCm39) |
V6A |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
| Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,787 (GRCm39) |
C400R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,668,188 (GRCm39) |
M894T |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
| Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
| Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
| Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,206,677 (GRCm39) |
V374L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
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 |
|
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 |
|
X0027:Pals2
|
UTSW |
6 |
50,140,511 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTATGTCCGTAAGCTCAGGAAG -3'
(R):5'- CCACAGTGTACATGCTCCAG -3'
Sequencing Primer
(F):5'- CACAGGCACTGAAAGTGT -3'
(R):5'- CCTAAGCATGACTAGATGGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation