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: 0.627) question?
Stock # R2208 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 111259410-111344152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111302463 bp (GRCm39)
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

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 probably benign
Transcript: ENSMUST00000222196
Meta Mutation Damage Score 0.9733 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,995,096 (GRCm39) V5460A probably benign Het
Bco2 A G 9: 50,444,755 (GRCm39) V517A probably damaging Het
Brca2 T A 5: 150,455,809 (GRCm39) D183E probably damaging Het
Ccdc142 T C 6: 83,084,941 (GRCm39) probably null Het
Ccdc39 A G 3: 33,895,327 (GRCm39) L34P probably damaging Het
Cdc73 T A 1: 143,485,120 (GRCm39) E516V probably damaging Het
Cep170b T A 12: 112,705,419 (GRCm39) L1059Q probably benign Het
Chrm1 T C 19: 8,655,463 (GRCm39) L56P probably damaging Het
Clec4d T A 6: 123,242,314 (GRCm39) V22D probably damaging Het
Cplane1 T A 15: 8,223,887 (GRCm39) N883K probably benign Het
Cyp2c39 T C 19: 39,549,405 (GRCm39) Y308H possibly damaging Het
Cyp2d12 T C 15: 82,441,137 (GRCm39) L141P probably damaging Het
Cyp4x1 G T 4: 114,983,791 (GRCm39) Q85K probably benign Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Enpp7 T C 11: 118,879,588 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fitm2 T A 2: 163,314,604 (GRCm39) probably benign Het
Gng10 T A 4: 59,035,314 (GRCm39) I26N possibly damaging Het
Gpr33 C T 12: 52,070,236 (GRCm39) V268I probably benign Het
Hmcn2 G A 2: 31,270,309 (GRCm39) C1182Y probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Krt36 C T 11: 99,993,765 (GRCm39) V358M probably damaging Het
Lmod3 T C 6: 97,224,838 (GRCm39) I328V probably benign Het
Lrp8 T C 4: 107,712,987 (GRCm39) V580A probably damaging Het
Masp2 T C 4: 148,698,872 (GRCm39) I651T probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Msi2 A T 11: 88,480,934 (GRCm39) S118T probably damaging Het
Muc19 T C 15: 91,755,747 (GRCm39) noncoding transcript Het
Nabp1 G A 1: 51,516,773 (GRCm39) R32* probably null Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nup88 T C 11: 70,856,545 (GRCm39) D196G probably damaging Het
Or11h4b T C 14: 50,919,020 (GRCm39) I24V probably benign Het
Pax1 T A 2: 147,207,722 (GRCm39) I198N probably damaging Het
Pde3a A G 6: 141,196,073 (GRCm39) E253G probably damaging Het
Phldb1 C T 9: 44,607,428 (GRCm39) R1192Q probably damaging Het
Pianp C A 6: 124,976,602 (GRCm39) P137Q probably damaging Het
Prdm15 A C 16: 97,600,464 (GRCm39) probably null Het
Ptprf A T 4: 118,126,369 (GRCm39) probably benign Het
Rfx7 A G 9: 72,525,246 (GRCm39) D812G probably benign Het
Rgs22 T C 15: 36,050,378 (GRCm39) T691A probably benign Het
Rundc3a A T 11: 102,292,914 (GRCm39) S436C probably damaging Het
Sntb1 T C 15: 55,769,714 (GRCm39) T92A possibly damaging Het
Tars3 T C 7: 65,332,596 (GRCm39) S566P probably damaging Het
Tbc1d32 A T 10: 56,026,888 (GRCm39) probably null Het
Tep1 T C 14: 51,104,321 (GRCm39) Q191R probably benign Het
Tmc2 C A 2: 130,056,483 (GRCm39) probably null Het
Tns1 A C 1: 74,118,399 (GRCm39) I77S probably damaging Het
Trpd52l3 T C 19: 29,981,646 (GRCm39) W134R probably damaging Het
Vmn2r15 A C 5: 109,445,309 (GRCm39) N38K possibly damaging Het
Wdr90 A T 17: 26,079,362 (GRCm39) D257E probably damaging Het
Zbtb9 T C 17: 27,193,098 (GRCm39) C168R possibly damaging Het
Zfp1004 T A 2: 150,035,065 (GRCm39) V462E probably benign 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
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'- CTCAGGTTGTGATGGGAAACAC -3'
(R):5'- TCCGACAGCTTCTAGGGTAG -3'

Sequencing Primer
(F):5'- ACAACTCTGTGCCCGAGCTTAG -3'
(R):5'- CGACAGCTTCTAGGGTAGCTAAC -3'
Posted On 2014-10-02