Incidental Mutation 'IGL02296:Pak2'
| ID |
290194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pak2
|
| Ensembl Gene |
ENSMUSG00000022781 |
| Gene Name |
p21 (RAC1) activated kinase 2 |
| Synonyms |
D16Ertd269e, PAK-2, 5330420P17Rik, A130002K10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31835108-31898160 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 31862820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023467]
[ENSMUST00000023467]
[ENSMUST00000023467]
|
| AlphaFold |
Q8CIN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023467
|
| SMART Domains |
Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
PBD
|
74 |
109 |
4.83e-16 |
SMART |
|
low complexity region
|
170 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
226 |
N/A |
INTRINSIC |
|
S_TKc
|
249 |
500 |
9.34e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023467
|
| SMART Domains |
Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
PBD
|
74 |
109 |
4.83e-16 |
SMART |
|
low complexity region
|
170 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
226 |
N/A |
INTRINSIC |
|
S_TKc
|
249 |
500 |
9.34e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023467
|
| SMART Domains |
Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
PBD
|
74 |
109 |
4.83e-16 |
SMART |
|
low complexity region
|
170 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
226 |
N/A |
INTRINSIC |
|
S_TKc
|
249 |
500 |
9.34e-97 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125019
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402D24Rik |
T |
A |
1: 63,808,344 (GRCm39) |
R7S |
unknown |
Het |
| Acss3 |
A |
T |
10: 106,889,312 (GRCm39) |
Y169* |
probably null |
Het |
| Anln |
T |
C |
9: 22,283,483 (GRCm39) |
K450R |
possibly damaging |
Het |
| Armc10 |
A |
T |
5: 21,865,631 (GRCm39) |
R225S |
probably benign |
Het |
| Cbfb |
T |
A |
8: 105,905,312 (GRCm39) |
Y85N |
probably damaging |
Het |
| Col13a1 |
G |
T |
10: 61,697,804 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,700,600 (GRCm39) |
I626V |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,731,065 (GRCm39) |
T172M |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Glyat |
A |
T |
19: 12,628,625 (GRCm39) |
D140V |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,585,130 (GRCm39) |
F25I |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,576,880 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,317 (GRCm39) |
R501* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,034,662 (GRCm39) |
E23G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,751,983 (GRCm39) |
S456N |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,221,021 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,200 (GRCm39) |
N289S |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,474,793 (GRCm39) |
A674D |
possibly damaging |
Het |
| Or1e25 |
A |
T |
11: 73,493,532 (GRCm39) |
N42I |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,311 (GRCm39) |
|
probably null |
Het |
| Pde4a |
A |
T |
9: 21,103,865 (GRCm39) |
N138I |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,993,001 (GRCm39) |
D286G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,425,051 (GRCm39) |
Q131* |
probably null |
Het |
| Prdx2 |
T |
A |
8: 85,700,681 (GRCm39) |
D188E |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,048,657 (GRCm39) |
K453R |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,218 (GRCm39) |
V470A |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,123,464 (GRCm39) |
S416G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,354,162 (GRCm39) |
H4013R |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,055 (GRCm39) |
L185P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,768 (GRCm39) |
I33406T |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,331,062 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Pak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Pak2
|
APN |
16 |
31,860,362 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01807:Pak2
|
APN |
16 |
31,856,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02828:Pak2
|
APN |
16 |
31,840,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7371:Pak2
|
UTSW |
16 |
31,852,602 (GRCm39) |
splice site |
probably benign |
|
|
PIT4142001:Pak2
|
UTSW |
16 |
31,841,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Pak2
|
UTSW |
16 |
31,852,661 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1569:Pak2
|
UTSW |
16 |
31,856,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Pak2
|
UTSW |
16 |
31,871,005 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4180:Pak2
|
UTSW |
16 |
31,871,005 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4223:Pak2
|
UTSW |
16 |
31,871,028 (GRCm39) |
missense |
probably benign |
|
|
R5114:Pak2
|
UTSW |
16 |
31,861,936 (GRCm39) |
intron |
probably benign |
|
|
R5294:Pak2
|
UTSW |
16 |
31,840,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5340:Pak2
|
UTSW |
16 |
31,853,764 (GRCm39) |
splice site |
probably null |
|
|
R5342:Pak2
|
UTSW |
16 |
31,863,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Pak2
|
UTSW |
16 |
31,860,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7590:Pak2
|
UTSW |
16 |
31,871,014 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7995:Pak2
|
UTSW |
16 |
31,846,590 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8324:Pak2
|
UTSW |
16 |
31,871,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8485:Pak2
|
UTSW |
16 |
31,871,083 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8948:Pak2
|
UTSW |
16 |
31,852,729 (GRCm39) |
splice site |
probably benign |
|
|
R9723:Pak2
|
UTSW |
16 |
31,852,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pak2
|
UTSW |
16 |
31,863,396 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation