Incidental Mutation 'R7622:Cdc42bpb'
ID 589213
Institutional Source Beutler Lab
Gene Symbol Cdc42bpb
Ensembl Gene ENSMUSG00000021279
Gene Name CDC42 binding protein kinase beta
Synonyms DMPK-like
MMRRC Submission 045717-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.627) question?
Stock # R7622 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111259410-111344152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 111261206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 201 (E201A)
Ref Sequence ENSEMBL: ENSMUSP00000152591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000220657]
AlphaFold Q7TT50
Predicted Effect probably benign
Transcript: ENSMUST00000041965
SMART Domains Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000220657
AA Change: E201A
Predicted Effect probably benign
Transcript: ENSMUST00000222724
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 G A 5: 129,216,688 (GRCm39) D384N probably benign Het
Aqp8 T C 7: 123,065,883 (GRCm39) F226S possibly damaging Het
Arl6ip6 A G 2: 53,107,339 (GRCm39) Y207C probably damaging Het
Bltp1 C A 3: 37,002,562 (GRCm39) C1502* probably null Het
Cbfa2t2 A G 2: 154,342,365 (GRCm39) E27G possibly damaging Het
Cfap54 A C 10: 92,792,806 (GRCm39) V1769G unknown Het
Dmxl2 C T 9: 54,379,502 (GRCm39) G7S probably damaging Het
Dnah6 G T 6: 73,101,742 (GRCm39) F1927L possibly damaging Het
Dnajc6 A G 4: 101,497,688 (GRCm39) E942G probably damaging Het
Fam170a A G 18: 50,415,969 (GRCm39) R324G probably benign Het
Gapdhs G A 7: 30,438,756 (GRCm39) T9I unknown Het
Gm10320 T A 13: 98,626,232 (GRCm39) R51* probably null Het
Gm19410 A T 8: 36,277,501 (GRCm39) T1776S possibly damaging Het
Gm4846 A T 1: 166,323,441 (GRCm39) M94K possibly damaging Het
Ighv2-5 G A 12: 113,649,358 (GRCm39) Q32* probably null Het
Klc2 T C 19: 5,161,660 (GRCm39) E310G probably damaging Het
Krt75 A G 15: 101,478,707 (GRCm39) M309T probably damaging Het
Lrp11 G A 10: 7,465,936 (GRCm39) G41R unknown Het
Lrrc52 G T 1: 167,293,664 (GRCm39) P207Q probably benign Het
Lrrc52 G T 1: 167,293,665 (GRCm39) P207T probably benign Het
Lrrk2 A T 15: 91,696,526 (GRCm39) D2438V probably damaging Het
Mycbp C T 4: 123,799,094 (GRCm39) T28M probably damaging Het
Myh14 A G 7: 44,281,846 (GRCm39) V804A probably benign Het
Myo16 A G 8: 10,426,238 (GRCm39) I332V unknown Het
Ncor1 G T 11: 62,208,794 (GRCm39) Q1359K probably benign Het
Oog3 T C 4: 143,884,889 (GRCm39) D349G probably benign Het
Or12e1 A T 2: 87,022,594 (GRCm39) I188L probably benign Het
Or1j21 A G 2: 36,683,943 (GRCm39) K232E probably benign Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Or8k53 A G 2: 86,178,006 (GRCm39) Y35H possibly damaging Het
Pate4 A G 9: 35,519,595 (GRCm39) S32P possibly damaging Het
Pcdhb7 A C 18: 37,475,514 (GRCm39) S217R probably benign Het
Pde1c G A 6: 56,103,910 (GRCm39) R580C probably damaging Het
Pi4ka C A 16: 17,111,841 (GRCm39) A1545S Het
Pign G T 1: 105,575,842 (GRCm39) T266K possibly damaging Het
Pitpnm2 A G 5: 124,260,090 (GRCm39) I1134T probably benign Het
Ppfia2 G A 10: 106,666,520 (GRCm39) V409I possibly damaging Het
Prr7 A G 13: 55,620,609 (GRCm39) T206A probably benign Het
Rnf13 A T 3: 57,727,955 (GRCm39) R212* probably null Het
Rwdd2b T C 16: 87,231,500 (GRCm39) N218S probably benign Het
Serpina3m A G 12: 104,355,834 (GRCm39) D167G possibly damaging Het
Slit2 A T 5: 48,142,547 (GRCm39) N56Y probably damaging Het
Sprr3 G T 3: 92,364,592 (GRCm39) T84K probably damaging Het
Stab2 A T 10: 86,709,766 (GRCm39) H1626Q possibly damaging Het
Tex2 C A 11: 106,437,721 (GRCm39) D650Y unknown Het
Tmprss6 A G 15: 78,330,926 (GRCm39) S436P probably benign Het
Uba2 A C 7: 33,864,860 (GRCm39) F63L probably damaging Het
Ubxn2b C T 4: 6,214,692 (GRCm39) S242L probably damaging Het
Vmn1r86 T G 7: 12,836,685 (GRCm39) I64L probably benign Het
Vmn2r67 A T 7: 84,785,662 (GRCm39) V781E probably damaging Het
Vmn2r80 T A 10: 79,030,097 (GRCm39) F641Y probably damaging Het
Wdfy4 A T 14: 32,800,231 (GRCm39) I1965K Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Wdr90 G T 17: 26,073,083 (GRCm39) F837L probably benign Het
Xpo4 A G 14: 57,834,468 (GRCm39) V704A possibly damaging Het
Zc3h12d A G 10: 7,743,033 (GRCm39) K268E probably damaging Het
Other mutations in Cdc42bpb
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2077:Cdc42bpb UTSW 12 111,265,630 (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
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'- ACCTGGCTCAACTCTAAGGG -3'
(R):5'- CAAAGGTGTCCTTGTCTGTAGG -3'

Sequencing Primer
(F):5'- TGGCTCAACTCTAAGGGAAATC -3'
(R):5'- AGCCTGGAGTGCCTGTG -3'
Posted On 2019-10-24