Incidental Mutation 'IGL01807:Pak2'
ID |
155717 |
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 # |
IGL01807
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31835108-31898160 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31856097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 247
(K247E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023467]
|
AlphaFold |
Q8CIN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023467
AA Change: K247E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023467 Gene: ENSMUSG00000022781 AA Change: K247E
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 |
Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,330,418 (GRCm39) |
E814G |
possibly damaging |
Het |
Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
Chmp2b |
T |
A |
16: 65,337,091 (GRCm39) |
T189S |
probably benign |
Het |
Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
Fbxo15 |
T |
A |
18: 84,999,506 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,290,873 (GRCm38) |
L452F |
probably benign |
Het |
Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
Pola2 |
A |
G |
19: 6,003,187 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
probably null |
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 |
IGL02296:Pak2
|
APN |
16 |
31,862,820 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
2014-02-04 |