Incidental Mutation 'R6963:Pals2'
| ID |
557087 |
| 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 |
045073-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 50140635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000166318]
[ENSMUST00000167628]
[ENSMUST00000171601]
[ENSMUST00000204545]
|
| AlphaFold |
Q9JLB0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036225
|
| SMART Domains |
Protein: ENSMUSP00000038772
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 |
|
GuKc
|
350 |
541 |
8.92e-72 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000036236
|
| SMART Domains |
Protein: ENSMUSP00000039314
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
|
217 |
282 |
7.52e-12 |
SMART |
|
GuKc
|
336 |
527 |
8.92e-72 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166318
|
| SMART Domains |
Protein: ENSMUSP00000125880
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 |
|
GuKc
|
350 |
541 |
8.92e-72 |
SMART |
|
| Predicted Effect |
probably null
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: ENSMUST00000171601
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204545
|
| SMART Domains |
Protein: ENSMUSP00000144737
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
|
217 |
282 |
7.52e-12 |
SMART |
|
GuKc
|
336 |
527 |
8.92e-72 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,044,303 (GRCm39) |
H196Y |
probably damaging |
Het |
| Abi3 |
G |
A |
11: 95,723,567 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
| Asgr1 |
T |
C |
11: 69,946,794 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
C |
T |
8: 120,457,006 (GRCm39) |
R203* |
probably null |
Het |
| Brms1 |
T |
A |
19: 5,096,681 (GRCm39) |
I121N |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,596,439 (GRCm39) |
R58W |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,381,309 (GRCm39) |
T444A |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,007 (GRCm39) |
E142G |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,060,555 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,104,811 (GRCm39) |
Y17H |
probably benign |
Het |
| Gp2 |
A |
G |
7: 119,052,120 (GRCm39) |
V198A |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,874,940 (GRCm39) |
V104A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,827,641 (GRCm39) |
K152E |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,041 (GRCm39) |
S443P |
probably benign |
Het |
| Kdm5d |
C |
A |
Y: 937,975 (GRCm39) |
Q925K |
probably benign |
Het |
| Ly6k |
G |
C |
15: 74,670,431 (GRCm39) |
P37R |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,713 (GRCm39) |
S626P |
probably damaging |
Het |
| Mcoln2 |
A |
G |
3: 145,877,790 (GRCm39) |
K137R |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,877,804 (GRCm39) |
N298S |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,734,149 (GRCm39) |
I379T |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,781,540 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
G |
8: 32,407,690 (GRCm39) |
F181S |
probably benign |
Het |
| Or5b24 |
C |
T |
19: 12,913,002 (GRCm39) |
A300V |
probably damaging |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Rfc5 |
T |
A |
5: 117,525,931 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,642,870 (GRCm39) |
V359A |
probably damaging |
Het |
| Skp2 |
T |
C |
15: 9,139,515 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,110 (GRCm39) |
E134G |
probably damaging |
Het |
| Ttll4 |
T |
A |
1: 74,720,975 (GRCm39) |
I547K |
probably damaging |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,769 (GRCm39) |
I91T |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,849 (GRCm39) |
S511P |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,592,577 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
T |
G |
2: 44,878,811 (GRCm39) |
E1141A |
probably damaging |
Het |
| Zfp1002 |
A |
G |
2: 150,097,265 (GRCm39) |
C55R |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,059,359 (GRCm39) |
Y373* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGTAATCGCCCGAATC -3'
(R):5'- TCTGCAGGCTGCCCAAATAC -3'
Sequencing Primer
(F):5'- TCCTTCATGGAGGAATGATAGATCG -3'
(R):5'- CCCAAATACCAGGGTTCATAATGTTC -3'
|
| Posted On |
2019-06-12 |
Incidental Mutation