Incidental Mutation 'R3802:Pak3'
| ID |
274386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak3
|
| Ensembl Gene |
ENSMUSG00000031284 |
| Gene Name |
p21 (RAC1) activated kinase 3 |
| Synonyms |
PAK-3 |
| MMRRC Submission |
040761-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R3802 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
142301587-142580792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142492727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 87
(V87I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033640]
[ENSMUST00000112863]
[ENSMUST00000112864]
[ENSMUST00000112865]
[ENSMUST00000112868]
[ENSMUST00000134402]
[ENSMUST00000155215]
[ENSMUST00000172330]
[ENSMUST00000156449]
|
| AlphaFold |
Q61036 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033640
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033640
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
120 |
6.48e-8 |
SMART |
|
low complexity region
|
187 |
204 |
N/A |
INTRINSIC |
|
S_TKc
|
283 |
534 |
1.46e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112863
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108484
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
120 |
6.48e-8 |
SMART |
|
low complexity region
|
187 |
204 |
N/A |
INTRINSIC |
|
S_TKc
|
283 |
534 |
1.46e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112864
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108485
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
1.11e-15 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
S_TKc
|
268 |
519 |
1.46e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112865
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108486
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
1.11e-15 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
S_TKc
|
268 |
519 |
1.46e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112868
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108489
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
1.11e-15 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
S_TKc
|
268 |
519 |
1.46e-98 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134402
AA Change: V87I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119090
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
2.49e-9 |
SMART |
|
Pfam:PBD
|
124 |
163 |
2e-9 |
PFAM |
|
low complexity region
|
208 |
225 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
304 |
366 |
4e-10 |
PFAM |
|
Pfam:Pkinase_Tyr
|
304 |
366 |
1.8e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155215
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118549
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
120 |
6.48e-8 |
SMART |
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172330
AA Change: V87I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126562
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
1.11e-15 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
S_TKc
|
268 |
519 |
1.46e-98 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156449
AA Change: V87I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118716
Gene: ENSMUSG00000031284
AA Change: V87I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
70 |
105 |
1.11e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.1486 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (47/47) |
| 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 serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for one knock-out allele display a selective impairment in hippocampal late-phase long-term potentiation, and deficits in learning and memory. [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 |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
| Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
| Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
| Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
| Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,582,943 (GRCm39) |
D309N |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,072,877 (GRCm39) |
F166L |
possibly damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
| Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,826,449 (GRCm39) |
I235N |
probably damaging |
Het |
| Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
| Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
| Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
| Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pak3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Pak3
|
APN |
X |
142,572,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wolfpack
|
UTSW |
X |
142,516,205 (GRCm39) |
splice site |
probably null |
|
|
R0464:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0583:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0586:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0587:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0781:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0908:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1029:Pak3
|
UTSW |
X |
142,526,889 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1917:Pak3
|
UTSW |
X |
142,574,298 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2918:Pak3
|
UTSW |
X |
142,547,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Pak3
|
UTSW |
X |
142,492,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Pak3
|
UTSW |
X |
142,492,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Pak3
|
UTSW |
X |
142,492,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Pak3
|
UTSW |
X |
142,516,205 (GRCm39) |
splice site |
probably null |
|
|
R4328:Pak3
|
UTSW |
X |
142,516,205 (GRCm39) |
splice site |
probably null |
|
|
R4329:Pak3
|
UTSW |
X |
142,516,205 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCATGTACTTGTCAGTAAGG -3'
(R):5'- GGCAGGGTCTCCTTAGCATAAC -3'
Sequencing Primer
(F):5'- TGTACATACCAGAAAACGATGAGTC -3'
(R):5'- AGCATAACTACATTTTCTGTGCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation