Incidental Mutation 'R2880:Pak1'
| ID |
260278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak1
|
| Ensembl Gene |
ENSMUSG00000030774 |
| Gene Name |
p21 (RAC1) activated kinase 1 |
| Synonyms |
Paka, PAK-1 |
| MMRRC Submission |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97437748-97561588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97554018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 463
(Y463N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033040]
[ENSMUST00000156637]
[ENSMUST00000206984]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033040
AA Change: Y463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: Y463N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
PBD
|
75 |
110 |
3.92e-16 |
SMART |
|
low complexity region
|
168 |
191 |
N/A |
INTRINSIC |
|
S_TKc
|
269 |
520 |
7.19e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156637
|
| SMART Domains |
Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
PBD
|
75 |
110 |
3.92e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206984
AA Change: Y463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207017
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation. Mice homozygous for a different knock-out allele exhibit reduced long term potentiation. [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 |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably damaging |
Het |
|
| Other mutations in Pak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Pak1
|
APN |
7 |
97,503,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01676:Pak1
|
APN |
7 |
97,532,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02058:Pak1
|
APN |
7 |
97,560,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Pak1
|
APN |
7 |
97,520,794 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02678:Pak1
|
APN |
7 |
97,543,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1739:Pak1
|
UTSW |
7 |
97,553,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Pak1
|
UTSW |
7 |
97,520,787 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2057:Pak1
|
UTSW |
7 |
97,557,004 (GRCm39) |
splice site |
probably null |
|
|
R2363:Pak1
|
UTSW |
7 |
97,535,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2420:Pak1
|
UTSW |
7 |
97,503,686 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3113:Pak1
|
UTSW |
7 |
97,515,321 (GRCm39) |
nonsense |
probably null |
|
|
R3722:Pak1
|
UTSW |
7 |
97,503,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Pak1
|
UTSW |
7 |
97,532,793 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6021:Pak1
|
UTSW |
7 |
97,503,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Pak1
|
UTSW |
7 |
97,557,088 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6820:Pak1
|
UTSW |
7 |
97,535,586 (GRCm39) |
missense |
probably benign |
|
|
R7336:Pak1
|
UTSW |
7 |
97,538,179 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7717:Pak1
|
UTSW |
7 |
97,535,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Pak1
|
UTSW |
7 |
97,535,590 (GRCm39) |
missense |
probably benign |
|
|
R8833:Pak1
|
UTSW |
7 |
97,503,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9640:Pak1
|
UTSW |
7 |
97,515,355 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9748:Pak1
|
UTSW |
7 |
97,547,842 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0027:Pak1
|
UTSW |
7 |
97,553,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pak1
|
UTSW |
7 |
97,514,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCACTTACTGATGGAGTATCC -3'
(R):5'- AACTGGCAATCTTCTTATCCCAG -3'
Sequencing Primer
(F):5'- CACTTACTGATGGAGTATCCTAAGTG -3'
(R):5'- CCCAGTCTTGTAAGTCTAGGAGTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation