Incidental Mutation 'R2077:Cdc42bpb'
| ID |
229234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111265630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1434
(L1434P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000220657]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041965
AA Change: L1434P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: L1434P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
76 |
342 |
1e-87 |
SMART |
|
S_TK_X
|
343 |
405 |
5.02e-10 |
SMART |
|
Pfam:KELK
|
527 |
606 |
4.5e-32 |
PFAM |
|
low complexity region
|
628 |
640 |
N/A |
INTRINSIC |
|
coiled coil region
|
727 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
878 |
939 |
1.2e-29 |
PFAM |
|
C1
|
1027 |
1076 |
1.43e-11 |
SMART |
|
PH
|
1097 |
1217 |
1.19e-6 |
SMART |
|
CNH
|
1240 |
1521 |
1.32e-10 |
SMART |
|
low complexity region
|
1564 |
1576 |
N/A |
INTRINSIC |
|
PBD
|
1585 |
1620 |
7.16e-10 |
SMART |
|
low complexity region
|
1681 |
1696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222483
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222724
AA Change: L230P
|
| Meta Mutation Damage Score |
0.7711 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
probably damaging |
Het |
|
| Other mutations in Cdc42bpb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Cdc42bpb
|
APN |
12 |
111,260,530 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01360:Cdc42bpb
|
APN |
12 |
111,308,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Cdc42bpb
|
APN |
12 |
111,268,477 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01909:Cdc42bpb
|
APN |
12 |
111,289,576 (GRCm39) |
missense |
probably benign |
|
|
IGL01924:Cdc42bpb
|
APN |
12 |
111,283,887 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02428:Cdc42bpb
|
APN |
12 |
111,289,561 (GRCm39) |
missense |
probably benign |
|
|
IGL02678:Cdc42bpb
|
APN |
12 |
111,292,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Cdc42bpb
|
APN |
12 |
111,265,995 (GRCm39) |
missense |
probably benign |
|
|
IGL03367:Cdc42bpb
|
APN |
12 |
111,302,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
|
PIT4585001:Cdc42bpb
|
UTSW |
12 |
111,271,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Cdc42bpb
|
UTSW |
12 |
111,271,393 (GRCm39) |
intron |
probably benign |
|
|
R0633:Cdc42bpb
|
UTSW |
12 |
111,311,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1054:Cdc42bpb
|
UTSW |
12 |
111,279,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1335:Cdc42bpb
|
UTSW |
12 |
111,262,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Cdc42bpb
|
UTSW |
12 |
111,262,734 (GRCm39) |
unclassified |
probably benign |
|
|
R1780:Cdc42bpb
|
UTSW |
12 |
111,289,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Cdc42bpb
|
UTSW |
12 |
111,293,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Cdc42bpb
|
UTSW |
12 |
111,289,255 (GRCm39) |
missense |
probably benign |
|
|
R1902:Cdc42bpb
|
UTSW |
12 |
111,292,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Cdc42bpb
|
UTSW |
12 |
111,265,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Cdc42bpb
|
UTSW |
12 |
111,262,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2208:Cdc42bpb
|
UTSW |
12 |
111,302,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Cdc42bpb
|
UTSW |
12 |
111,268,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2273:Cdc42bpb
|
UTSW |
12 |
111,268,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Cdc42bpb
|
UTSW |
12 |
111,268,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3080:Cdc42bpb
|
UTSW |
12 |
111,262,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3612:Cdc42bpb
|
UTSW |
12 |
111,270,256 (GRCm39) |
intron |
probably benign |
|
|
R4106:Cdc42bpb
|
UTSW |
12 |
111,261,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4133:Cdc42bpb
|
UTSW |
12 |
111,287,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4156:Cdc42bpb
|
UTSW |
12 |
111,260,573 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4202:Cdc42bpb
|
UTSW |
12 |
111,260,573 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4573:Cdc42bpb
|
UTSW |
12 |
111,289,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4659:Cdc42bpb
|
UTSW |
12 |
111,306,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Cdc42bpb
|
UTSW |
12 |
111,265,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Cdc42bpb
|
UTSW |
12 |
111,289,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5669:Cdc42bpb
|
UTSW |
12 |
111,268,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5830:Cdc42bpb
|
UTSW |
12 |
111,312,016 (GRCm39) |
nonsense |
probably null |
|
|
R5872:Cdc42bpb
|
UTSW |
12 |
111,292,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6748:Cdc42bpb
|
UTSW |
12 |
111,261,273 (GRCm39) |
unclassified |
probably benign |
|
|
R6813:Cdc42bpb
|
UTSW |
12 |
111,294,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Cdc42bpb
|
UTSW |
12 |
111,292,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Cdc42bpb
|
UTSW |
12 |
111,287,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Cdc42bpb
|
UTSW |
12 |
111,271,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7258:Cdc42bpb
|
UTSW |
12 |
111,292,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Cdc42bpb
|
UTSW |
12 |
111,265,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Cdc42bpb
|
UTSW |
12 |
111,312,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Cdc42bpb
|
UTSW |
12 |
111,272,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Cdc42bpb
|
UTSW |
12 |
111,306,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Cdc42bpb
|
UTSW |
12 |
111,261,206 (GRCm39) |
missense |
unknown |
|
|
R7648:Cdc42bpb
|
UTSW |
12 |
111,343,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Cdc42bpb
|
UTSW |
12 |
111,295,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Cdc42bpb
|
UTSW |
12 |
111,302,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8738:Cdc42bpb
|
UTSW |
12 |
111,274,221 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9111:Cdc42bpb
|
UTSW |
12 |
111,284,903 (GRCm39) |
missense |
probably benign |
|
|
R9168:Cdc42bpb
|
UTSW |
12 |
111,286,517 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9506:Cdc42bpb
|
UTSW |
12 |
111,261,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9510:Cdc42bpb
|
UTSW |
12 |
111,261,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9511:Cdc42bpb
|
UTSW |
12 |
111,261,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9542:Cdc42bpb
|
UTSW |
12 |
111,268,508 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Cdc42bpb
|
UTSW |
12 |
111,265,762 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9758:Cdc42bpb
|
UTSW |
12 |
111,265,783 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
V7582:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
|
V7583:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0023:Cdc42bpb
|
UTSW |
12 |
111,292,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAACAGAACATGCCGGCTG -3'
(R):5'- ACTAAGCCTTTCCACAGGAAGTTC -3'
Sequencing Primer
(F):5'- TGTCCGTGTGAGCAGCAG -3'
(R):5'- CCTTTCCACAGGAAGTTCAGTGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation