Incidental Mutation 'R5591:Pals2'
| ID |
437520 |
| 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 |
043269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50087221-50175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50157159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 276
(S276G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036225]
[ENSMUST00000036236]
[ENSMUST00000166318]
[ENSMUST00000167628]
[ENSMUST00000204545]
|
| AlphaFold |
Q9JLB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036225
AA Change: S276G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: S276G
| 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: S262G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: S262G
| 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: S276G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: S276G
| 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
AA Change: S276G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129355
Gene: ENSMUSG00000038388
AA Change: S276G
| 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: S262G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: S262G
| 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 |
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (56/58) |
| 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 |
|---|
| Aldh16a1 |
T |
C |
7: 44,794,076 (GRCm39) |
E13G |
probably null |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,661,263 (GRCm39) |
M276K |
probably benign |
Het |
| Casp14 |
A |
T |
10: 78,550,179 (GRCm39) |
D156E |
unknown |
Het |
| Ccdc82 |
T |
A |
9: 13,272,822 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,521 (GRCm39) |
N436S |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,029,359 (GRCm39) |
|
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,662 (GRCm39) |
S226P |
probably damaging |
Het |
| Gm3676 |
T |
C |
14: 41,365,181 (GRCm39) |
Y158C |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,476,844 (GRCm39) |
I285K |
probably benign |
Het |
| Gpr179 |
C |
T |
11: 97,236,581 (GRCm39) |
V417I |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,882,051 (GRCm39) |
M247I |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,234,059 (GRCm39) |
L275F |
probably damaging |
Het |
| Ifi27l2b |
A |
G |
12: 103,417,566 (GRCm39) |
V207A |
probably damaging |
Het |
| Isg20l2 |
C |
T |
3: 87,837,731 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,670,934 (GRCm39) |
D221G |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,979,929 (GRCm39) |
Y67C |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,018 (GRCm39) |
C249S |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,184,060 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mbd5 |
A |
C |
2: 49,164,681 (GRCm39) |
Q958H |
probably damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrm3 |
G |
A |
11: 76,140,907 (GRCm39) |
R305H |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,063,890 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,658 (GRCm39) |
I127K |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,244 (GRCm39) |
I304F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,608 (GRCm39) |
Q270L |
probably damaging |
Het |
| Or2ak7 |
A |
G |
11: 58,574,951 (GRCm39) |
N84S |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,489 (GRCm39) |
M59K |
probably damaging |
Het |
| Or4c126 |
A |
G |
2: 89,823,751 (GRCm39) |
T5A |
possibly damaging |
Het |
| Or51q1 |
G |
T |
7: 103,629,320 (GRCm39) |
R307L |
probably benign |
Het |
| P3h3 |
C |
T |
6: 124,831,658 (GRCm39) |
|
probably benign |
Het |
| Plekhg3 |
C |
T |
12: 76,607,066 (GRCm39) |
S42L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,832,247 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,377 (GRCm39) |
Y483C |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,691,530 (GRCm39) |
L398I |
probably damaging |
Het |
| Raph1 |
G |
A |
1: 60,540,905 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
G |
A |
13: 47,396,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,609,900 (GRCm39) |
S4309P |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,601,482 (GRCm39) |
S1158T |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,898,048 (GRCm39) |
V94A |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,525,317 (GRCm39) |
D42G |
possibly damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,630,412 (GRCm39) |
K155N |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,800,545 (GRCm39) |
Y428C |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,583,922 (GRCm39) |
N1655S |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,787,964 (GRCm39) |
E1160G |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,254 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,540,012 (GRCm39) |
M25998L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,379,963 (GRCm39) |
|
probably benign |
Het |
| Vamp4 |
A |
G |
1: 162,415,811 (GRCm39) |
I71V |
possibly damaging |
Het |
| Washc5 |
C |
A |
15: 59,241,012 (GRCm39) |
D108Y |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,829,087 (GRCm39) |
H1043L |
probably benign |
Het |
| Zcchc14 |
C |
T |
8: 122,332,187 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,579,262 (GRCm39) |
F617S |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,342 (GRCm39) |
N77I |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTGGACATACATGAGTCTTAG -3'
(R):5'- AGAATTGCCCTTCCTAGGAGGG -3'
Sequencing Primer
(F):5'- CTTCAACTGACCAGCACT -3'
(R):5'- GTCACTGGATTTTGATACACTACCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation