Incidental Mutation 'R3080:Cdc42bpb'
ID 265391
Institutional Source Beutler Lab
Gene Symbol Cdc42bpb
Ensembl Gene ENSMUSG00000021279
Gene Name CDC42 binding protein kinase beta
Synonyms DMPK-like
MMRRC Submission 040570-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.627) question?
Stock # R3080 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 111259410-111344152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111262252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 75 (I75T)
Ref Sequence ENSEMBL: ENSMUSP00000152591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000220657]
AlphaFold Q7TT50
Predicted Effect possibly damaging
Transcript: ENSMUST00000041965
AA Change: I1585T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: I1585T

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 noncoding transcript
Transcript: ENSMUST00000181055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220619
Predicted Effect probably damaging
Transcript: ENSMUST00000220657
AA Change: I75T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222483
Predicted Effect probably benign
Transcript: ENSMUST00000222724
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Ciao2b G C 8: 105,368,259 (GRCm39) R22G possibly damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fam76b G A 9: 13,744,458 (GRCm39) G185D probably benign Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
H3c2 A G 13: 23,936,481 (GRCm39) H40R possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc1a2 T G 2: 102,578,901 (GRCm39) L272R probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N 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
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'- GCCCATCACTTGACTGAGTC -3'
(R):5'- AACGACGTTTTGTCTTCAAGGTTC -3'

Sequencing Primer
(F):5'- ATCACTTGACTGAGTCCCACG -3'
(R):5'- TCTTCAAGGTTCCCGAGGAAG -3'
Posted On 2015-02-05