Incidental Mutation 'R2208:Cdc42bpb'
| ID |
236791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.711)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111292976-111377718 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111336029 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 198
(H198L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000222196]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041965
AA Change: H198L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: H198L
| 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 |
probably benign
Transcript: ENSMUST00000222196
|
| Meta Mutation Damage Score |
0.9733 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 9,017,732 (GRCm38) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,533,455 (GRCm38) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,532,344 (GRCm38) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,960 (GRCm38) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,841,178 (GRCm38) |
L34P |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,609,382 (GRCm38) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,738,985 (GRCm38) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,678,099 (GRCm38) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,265,355 (GRCm38) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,194,403 (GRCm38) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,560,961 (GRCm38) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,556,936 (GRCm38) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 115,126,594 (GRCm38) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,791,597 (GRCm38) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,988,762 (GRCm38) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,684 (GRCm38) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm38) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,023,453 (GRCm38) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,380,297 (GRCm38) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 100,102,939 (GRCm38) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,247,877 (GRCm38) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,855,790 (GRCm38) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,614,415 (GRCm38) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,134,109 (GRCm38) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,590,108 (GRCm38) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,871,549 (GRCm38) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,477,614 (GRCm38) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,965,719 (GRCm38) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,681,563 (GRCm38) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,365,802 (GRCm38) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,250,347 (GRCm38) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,696,131 (GRCm38) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,999,639 (GRCm38) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,799,264 (GRCm38) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,269,172 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,617,964 (GRCm38) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,232 (GRCm38) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,402,088 (GRCm38) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,906,318 (GRCm38) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,682,848 (GRCm38) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,792 (GRCm38) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 50,866,864 (GRCm38) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,214,563 (GRCm38) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,079,240 (GRCm38) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 30,004,246 (GRCm38) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,297,443 (GRCm38) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 25,860,388 (GRCm38) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 26,974,124 (GRCm38) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,193,145 (GRCm38) |
V462E |
probably benign |
Het |
|
| Other mutations in Cdc42bpb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Cdc42bpb
|
APN |
12 |
111,294,096 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01360:Cdc42bpb
|
APN |
12 |
111,342,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01577:Cdc42bpb
|
APN |
12 |
111,302,043 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01909:Cdc42bpb
|
APN |
12 |
111,323,142 (GRCm38) |
missense |
probably benign |
|
|
IGL01924:Cdc42bpb
|
APN |
12 |
111,317,453 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02428:Cdc42bpb
|
APN |
12 |
111,323,127 (GRCm38) |
missense |
probably benign |
|
|
IGL02678:Cdc42bpb
|
APN |
12 |
111,326,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02792:Cdc42bpb
|
APN |
12 |
111,299,561 (GRCm38) |
missense |
probably benign |
|
|
IGL03367:Cdc42bpb
|
APN |
12 |
111,336,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
PIT4585001:Cdc42bpb
|
UTSW |
12 |
111,304,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0129:Cdc42bpb
|
UTSW |
12 |
111,304,959 (GRCm38) |
intron |
probably benign |
|
|
R0633:Cdc42bpb
|
UTSW |
12 |
111,345,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1054:Cdc42bpb
|
UTSW |
12 |
111,313,353 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1335:Cdc42bpb
|
UTSW |
12 |
111,296,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1459:Cdc42bpb
|
UTSW |
12 |
111,296,300 (GRCm38) |
unclassified |
probably benign |
|
|
R1780:Cdc42bpb
|
UTSW |
12 |
111,322,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1823:Cdc42bpb
|
UTSW |
12 |
111,327,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1843:Cdc42bpb
|
UTSW |
12 |
111,322,821 (GRCm38) |
missense |
probably benign |
|
|
R1902:Cdc42bpb
|
UTSW |
12 |
111,326,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1945:Cdc42bpb
|
UTSW |
12 |
111,299,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2077:Cdc42bpb
|
UTSW |
12 |
111,299,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Cdc42bpb
|
UTSW |
12 |
111,296,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2211:Cdc42bpb
|
UTSW |
12 |
111,301,854 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2273:Cdc42bpb
|
UTSW |
12 |
111,302,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2406:Cdc42bpb
|
UTSW |
12 |
111,302,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3080:Cdc42bpb
|
UTSW |
12 |
111,295,818 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3612:Cdc42bpb
|
UTSW |
12 |
111,303,822 (GRCm38) |
intron |
probably benign |
|
|
R4106:Cdc42bpb
|
UTSW |
12 |
111,295,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4133:Cdc42bpb
|
UTSW |
12 |
111,321,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4156:Cdc42bpb
|
UTSW |
12 |
111,294,139 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4202:Cdc42bpb
|
UTSW |
12 |
111,294,139 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4573:Cdc42bpb
|
UTSW |
12 |
111,323,141 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4659:Cdc42bpb
|
UTSW |
12 |
111,339,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5101:Cdc42bpb
|
UTSW |
12 |
111,299,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5591:Cdc42bpb
|
UTSW |
12 |
111,323,087 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5669:Cdc42bpb
|
UTSW |
12 |
111,302,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5830:Cdc42bpb
|
UTSW |
12 |
111,345,582 (GRCm38) |
nonsense |
probably null |
|
|
R5872:Cdc42bpb
|
UTSW |
12 |
111,325,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6748:Cdc42bpb
|
UTSW |
12 |
111,294,839 (GRCm38) |
unclassified |
probably benign |
|
|
R6813:Cdc42bpb
|
UTSW |
12 |
111,327,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7024:Cdc42bpb
|
UTSW |
12 |
111,326,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7165:Cdc42bpb
|
UTSW |
12 |
111,321,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7228:Cdc42bpb
|
UTSW |
12 |
111,305,093 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7258:Cdc42bpb
|
UTSW |
12 |
111,326,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7352:Cdc42bpb
|
UTSW |
12 |
111,299,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7361:Cdc42bpb
|
UTSW |
12 |
111,345,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7399:Cdc42bpb
|
UTSW |
12 |
111,305,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7468:Cdc42bpb
|
UTSW |
12 |
111,339,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7622:Cdc42bpb
|
UTSW |
12 |
111,294,772 (GRCm38) |
missense |
unknown |
|
|
R7648:Cdc42bpb
|
UTSW |
12 |
111,377,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7734:Cdc42bpb
|
UTSW |
12 |
111,329,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7783:Cdc42bpb
|
UTSW |
12 |
111,336,025 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8738:Cdc42bpb
|
UTSW |
12 |
111,307,787 (GRCm38) |
missense |
probably benign |
0.42 |
|
R9111:Cdc42bpb
|
UTSW |
12 |
111,318,469 (GRCm38) |
missense |
probably benign |
|
|
R9168:Cdc42bpb
|
UTSW |
12 |
111,320,083 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9506:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9510:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9511:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9542:Cdc42bpb
|
UTSW |
12 |
111,302,074 (GRCm38) |
nonsense |
probably null |
|
|
R9563:Cdc42bpb
|
UTSW |
12 |
111,299,328 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9758:Cdc42bpb
|
UTSW |
12 |
111,299,349 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
V7582:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
V7583:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
X0023:Cdc42bpb
|
UTSW |
12 |
111,326,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGGTTGTGATGGGAAACAC -3'
(R):5'- TCCGACAGCTTCTAGGGTAG -3'
Sequencing Primer
(F):5'- ACAACTCTGTGCCCGAGCTTAG -3'
(R):5'- CGACAGCTTCTAGGGTAGCTAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation