Incidental Mutation 'R4044:Pals1'
| ID |
313995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pals1
|
| Ensembl Gene |
ENSMUSG00000021112 |
| Gene Name |
protein associated with LIN7 1, MAGUK family member |
| Synonyms |
3830420B02Rik, Pals1, Mpp5 |
| MMRRC Submission |
040967-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R4044 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
78795681-78887488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78871613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 398
(E398K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082024]
[ENSMUST00000219197]
|
| AlphaFold |
Q9JLB2 |
| PDB Structure |
Solution structure of the PDZ domain of Pals1 protein [SOLUTION NMR]
2.1 Angstrom crystal structure of the PALS-1-L27N and PATJ L27 heterodimer complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082024
AA Change: E398K
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: E398K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
54 |
76 |
N/A |
INTRINSIC |
|
L27
|
123 |
180 |
2.04e-10 |
SMART |
|
L27
|
186 |
238 |
7.39e-8 |
SMART |
|
PDZ
|
265 |
336 |
5.99e-13 |
SMART |
|
SH3
|
348 |
416 |
1.2e-10 |
SMART |
|
low complexity region
|
439 |
454 |
N/A |
INTRINSIC |
|
GuKc
|
478 |
663 |
1.72e-64 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219197
|
| Meta Mutation Damage Score |
0.1529 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
| Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
| Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
| L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
| Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
| Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
| Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
| Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
probably damaging |
Het |
|
| Other mutations in Pals1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Pals1
|
APN |
12 |
78,876,573 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00863:Pals1
|
APN |
12 |
78,856,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Pals1
|
APN |
12 |
78,877,681 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1584:Pals1
|
UTSW |
12 |
78,876,501 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1632:Pals1
|
UTSW |
12 |
78,843,812 (GRCm39) |
nonsense |
probably null |
|
|
R2117:Pals1
|
UTSW |
12 |
78,856,696 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2186:Pals1
|
UTSW |
12 |
78,866,145 (GRCm39) |
splice site |
probably benign |
|
|
R2211:Pals1
|
UTSW |
12 |
78,844,022 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4224:Pals1
|
UTSW |
12 |
78,876,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Pals1
|
UTSW |
12 |
78,871,611 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5157:Pals1
|
UTSW |
12 |
78,867,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6144:Pals1
|
UTSW |
12 |
78,871,563 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6180:Pals1
|
UTSW |
12 |
78,864,084 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7037:Pals1
|
UTSW |
12 |
78,843,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Pals1
|
UTSW |
12 |
78,844,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8084:Pals1
|
UTSW |
12 |
78,867,625 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8937:Pals1
|
UTSW |
12 |
78,866,115 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8983:Pals1
|
UTSW |
12 |
78,884,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9128:Pals1
|
UTSW |
12 |
78,843,832 (GRCm39) |
missense |
probably benign |
|
|
R9396:Pals1
|
UTSW |
12 |
78,871,521 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9690:Pals1
|
UTSW |
12 |
78,866,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Pals1
|
UTSW |
12 |
78,843,850 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCATTTCTCTGCACTGATGTAAC -3'
(R):5'- ACATGATCAACCTTCATCTTCTCAG -3'
Sequencing Primer
(F):5'- ACACATAAGTTACATTTGTGCTGG -3'
(R):5'- GATCAACCTTCATCTTCTCAGTTCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation