Incidental Mutation 'R2920:Pak6'
| ID |
255453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak6
|
| Ensembl Gene |
ENSMUSG00000074923 |
| Gene Name |
p21 (RAC1) activated kinase 6 |
| Synonyms |
|
| MMRRC Submission |
040505-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118493784-118528501 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 118524488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099557]
[ENSMUST00000110853]
|
| AlphaFold |
Q3ULB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099557
|
| SMART Domains |
Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
12 |
47 |
4.47e-11 |
SMART |
|
S_TKc
|
408 |
659 |
2.38e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110853
|
| SMART Domains |
Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
12 |
47 |
4.47e-11 |
SMART |
|
S_TKc
|
408 |
659 |
2.38e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132577
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
| Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,325 (GRCm39) |
V108A |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Glb1l |
T |
A |
1: 75,185,834 (GRCm39) |
E31D |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
| Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
| Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
| Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
| Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,241,369 (GRCm39) |
L215P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,098 (GRCm39) |
V60A |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
possibly damaging |
Het |
|
| Other mutations in Pak6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Pak6
|
APN |
2 |
118,520,326 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL00979:Pak6
|
APN |
2 |
118,526,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Pak6
|
APN |
2 |
118,524,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01928:Pak6
|
APN |
2 |
118,520,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Pak6
|
APN |
2 |
118,523,741 (GRCm39) |
missense |
probably benign |
|
|
IGL02387:Pak6
|
APN |
2 |
118,523,714 (GRCm39) |
missense |
probably benign |
|
|
IGL03302:Pak6
|
APN |
2 |
118,523,784 (GRCm39) |
missense |
probably benign |
|
|
bedamned
|
UTSW |
2 |
118,524,488 (GRCm39) |
splice site |
probably benign |
|
|
bequeathed
|
UTSW |
2 |
118,524,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0126:Pak6
|
UTSW |
2 |
118,520,813 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0883:Pak6
|
UTSW |
2 |
118,524,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Pak6
|
UTSW |
2 |
118,526,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2073:Pak6
|
UTSW |
2 |
118,519,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Pak6
|
UTSW |
2 |
118,525,050 (GRCm39) |
nonsense |
probably null |
|
|
R3118:Pak6
|
UTSW |
2 |
118,520,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Pak6
|
UTSW |
2 |
118,523,921 (GRCm39) |
nonsense |
probably null |
|
|
R3762:Pak6
|
UTSW |
2 |
118,526,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4589:Pak6
|
UTSW |
2 |
118,527,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Pak6
|
UTSW |
2 |
118,525,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Pak6
|
UTSW |
2 |
118,525,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5206:Pak6
|
UTSW |
2 |
118,523,784 (GRCm39) |
missense |
probably benign |
|
|
R5683:Pak6
|
UTSW |
2 |
118,524,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Pak6
|
UTSW |
2 |
118,524,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7236:Pak6
|
UTSW |
2 |
118,523,909 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7292:Pak6
|
UTSW |
2 |
118,524,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7623:Pak6
|
UTSW |
2 |
118,525,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Pak6
|
UTSW |
2 |
118,525,793 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8190:Pak6
|
UTSW |
2 |
118,520,578 (GRCm39) |
nonsense |
probably null |
|
|
R8374:Pak6
|
UTSW |
2 |
118,524,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8515:Pak6
|
UTSW |
2 |
118,520,478 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9290:Pak6
|
UTSW |
2 |
118,523,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Pak6
|
UTSW |
2 |
118,520,243 (GRCm39) |
missense |
probably benign |
|
|
R9768:Pak6
|
UTSW |
2 |
118,520,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATGAGGCTTGCACGG -3'
(R):5'- GGGCAAAGGGACTACAACTC -3'
Sequencing Primer
(F):5'- ACCATGGGATGCTGTGC -3'
(R):5'- GGACTACAACTCCCAGGCTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation