Incidental Mutation 'R4904:Pak5'
| ID |
378017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak5
|
| Ensembl Gene |
ENSMUSG00000039913 |
| Gene Name |
p21 (RAC1) activated kinase 5 |
| Synonyms |
Pak5, Pak7, 2900083L08Rik |
| MMRRC Submission |
042507-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
135923024-136229887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135925267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 678
(D678E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035264]
[ENSMUST00000077200]
|
| AlphaFold |
Q8C015 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035264
AA Change: D678E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: D678E
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
11 |
46 |
5.3e-13 |
SMART |
|
low complexity region
|
394 |
415 |
N/A |
INTRINSIC |
|
S_TKc
|
449 |
700 |
1.39e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077200
AA Change: D678E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: D678E
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
11 |
46 |
5.3e-13 |
SMART |
|
low complexity region
|
394 |
415 |
N/A |
INTRINSIC |
|
S_TKc
|
449 |
700 |
1.39e-90 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
94% (82/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired active avoidance learning but are otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
| Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
| Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
| Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
| Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
| Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
| Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
| Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
| Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
| Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
| Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
| Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
| Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
| Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
| Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
| Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
| Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
| Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
| Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
| Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
| Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
| Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
| Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
| Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
| Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
| Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
probably null |
Het |
|
| Other mutations in Pak5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01671:Pak5
|
APN |
2 |
135,958,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01743:Pak5
|
APN |
2 |
135,929,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Pak5
|
APN |
2 |
135,958,855 (GRCm39) |
nonsense |
probably null |
|
|
IGL03172:Pak5
|
APN |
2 |
135,940,310 (GRCm39) |
nonsense |
probably null |
|
|
currency
|
UTSW |
2 |
135,942,859 (GRCm39) |
missense |
probably benign |
0.15 |
|
Depreciation
|
UTSW |
2 |
135,939,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Pak5
|
UTSW |
2 |
135,925,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Pak5
|
UTSW |
2 |
135,942,704 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0025:Pak5
|
UTSW |
2 |
135,942,704 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0400:Pak5
|
UTSW |
2 |
135,939,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0441:Pak5
|
UTSW |
2 |
135,958,549 (GRCm39) |
missense |
probably benign |
|
|
R1653:Pak5
|
UTSW |
2 |
135,958,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Pak5
|
UTSW |
2 |
135,958,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1855:Pak5
|
UTSW |
2 |
135,929,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1872:Pak5
|
UTSW |
2 |
135,927,508 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2001:Pak5
|
UTSW |
2 |
135,958,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2002:Pak5
|
UTSW |
2 |
135,958,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2157:Pak5
|
UTSW |
2 |
135,942,877 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2160:Pak5
|
UTSW |
2 |
135,940,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2217:Pak5
|
UTSW |
2 |
135,958,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Pak5
|
UTSW |
2 |
135,942,746 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4711:Pak5
|
UTSW |
2 |
135,929,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Pak5
|
UTSW |
2 |
135,929,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Pak5
|
UTSW |
2 |
135,925,149 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5669:Pak5
|
UTSW |
2 |
135,958,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Pak5
|
UTSW |
2 |
135,958,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6127:Pak5
|
UTSW |
2 |
135,929,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6250:Pak5
|
UTSW |
2 |
136,016,189 (GRCm39) |
start gained |
probably benign |
|
|
R6471:Pak5
|
UTSW |
2 |
135,958,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6797:Pak5
|
UTSW |
2 |
135,939,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Pak5
|
UTSW |
2 |
135,939,501 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6945:Pak5
|
UTSW |
2 |
135,942,859 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7254:Pak5
|
UTSW |
2 |
135,958,684 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7265:Pak5
|
UTSW |
2 |
135,943,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7335:Pak5
|
UTSW |
2 |
135,940,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Pak5
|
UTSW |
2 |
135,925,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7573:Pak5
|
UTSW |
2 |
135,958,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Pak5
|
UTSW |
2 |
135,942,884 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7908:Pak5
|
UTSW |
2 |
135,958,479 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8304:Pak5
|
UTSW |
2 |
135,940,203 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9091:Pak5
|
UTSW |
2 |
135,958,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9177:Pak5
|
UTSW |
2 |
135,943,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9270:Pak5
|
UTSW |
2 |
135,958,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9505:Pak5
|
UTSW |
2 |
135,958,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pak5
|
UTSW |
2 |
135,925,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGGTCTTTGCATGTTCTG -3'
(R):5'- ACACAACAATTGCTGTCATTCC -3'
Sequencing Primer
(F):5'- GGGTTTCCTCATGTTCTCCTGAATC -3'
(R):5'- ACAACAATTGCTGTCATTCCTTACC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation