Incidental Mutation 'R1945:Cdc42bpb'
ID 216614
Institutional Source Beutler Lab
Gene Symbol Cdc42bpb
Ensembl Gene ENSMUSG00000021279
Gene Name CDC42 binding protein kinase beta
Synonyms DMPK-like
MMRRC Submission 039963-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.627) question?
Stock # R1945 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 111259410-111344152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111265567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1455 (R1455Q)
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: R1455Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: R1455Q

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: ENSMUST00000220619
Predicted Effect probably benign
Transcript: ENSMUST00000220657
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: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,653,549 (GRCm39) I33V unknown Het
Abca1 ACGTCTTCACCAGGTAATC AC 4: 53,061,509 (GRCm39) probably null Het
Amotl2 T C 9: 102,597,753 (GRCm39) S171P probably benign Het
Armh4 T A 14: 50,005,940 (GRCm39) E585V probably damaging Het
Atf6 A T 1: 170,682,710 (GRCm39) V34E probably benign Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bglap A G 3: 88,290,971 (GRCm39) Y87H probably damaging Het
Camk2n1 G A 4: 138,184,094 (GRCm39) V78I possibly damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Cdc14b T C 13: 64,367,704 (GRCm39) Y208C probably damaging Het
Cep170 C A 1: 176,621,100 (GRCm39) G26* probably null Het
Cfap46 A G 7: 139,259,819 (GRCm39) F217S probably damaging Het
Col11a2 A T 17: 34,278,142 (GRCm39) D691V probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Coq8b CGCA CGCAGCA 7: 26,933,405 (GRCm39) probably benign Het
Coq8b GCA GCAACA 7: 26,933,406 (GRCm39) probably benign Het
Dcaf5 T C 12: 80,385,468 (GRCm39) D886G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
Etaa1 A G 11: 17,897,233 (GRCm39) C295R probably damaging Het
Ghdc C T 11: 100,660,031 (GRCm39) A239T probably benign Het
Grik4 T C 9: 42,432,300 (GRCm39) D899G possibly damaging Het
Hacd2 C A 16: 34,922,354 (GRCm39) T181K possibly damaging Het
Havcr2 T C 11: 46,345,877 (GRCm39) L17P unknown Het
Herc3 T C 6: 58,864,424 (GRCm39) V686A probably damaging Het
Hyal3 T C 9: 107,462,671 (GRCm39) L235P probably damaging Het
Itgb4 C T 11: 115,884,279 (GRCm39) Q988* probably null Het
Itprid2 T C 2: 79,492,996 (GRCm39) V1181A probably benign Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Lama1 T A 17: 68,052,848 (GRCm39) S394T probably benign Het
Lamp1 T C 8: 13,222,545 (GRCm39) V243A probably benign Het
Loxhd1 A G 18: 77,492,504 (GRCm39) Y1315C probably damaging Het
Macf1 A T 4: 123,384,453 (GRCm39) L1148* probably null Het
Mill2 A G 7: 18,575,419 (GRCm39) H42R probably benign Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Myo15b A T 11: 115,769,224 (GRCm39) I1472F probably damaging Het
Nasp T C 4: 116,479,965 (GRCm39) S36G possibly damaging Het
Nav2 A G 7: 49,114,620 (GRCm39) Y868C probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Npc1l1 C T 11: 6,175,199 (GRCm39) W592* probably null Het
Nsg2 T C 11: 32,005,068 (GRCm39) V90A probably damaging Het
Odf4 T C 11: 68,812,983 (GRCm39) N225S possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or1j12 T C 2: 36,343,043 (GRCm39) W149R probably damaging Het
Or4c123 T C 2: 89,127,128 (GRCm39) Y162C probably damaging Het
Pcdhb4 A T 18: 37,441,921 (GRCm39) R410S probably damaging Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pik3ap1 A T 19: 41,262,776 (GRCm39) S799T probably benign Het
Pitx2 A G 3: 129,012,185 (GRCm39) N198S probably damaging Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Recql5 G A 11: 115,819,123 (GRCm39) R148* probably null Het
Reep3 A G 10: 66,871,678 (GRCm39) S97P probably damaging Het
Rnase12 T A 14: 51,294,463 (GRCm39) Q72L possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Scn10a A T 9: 119,520,520 (GRCm39) S127T possibly damaging Het
Scn7a A T 2: 66,506,324 (GRCm39) W1522R probably damaging Het
Senp7 A G 16: 55,944,309 (GRCm39) H211R probably damaging Het
Septin10 C T 10: 59,016,841 (GRCm39) probably null Het
Serpinb6d T C 13: 33,851,663 (GRCm39) V140A possibly damaging Het
Sned1 A G 1: 93,198,960 (GRCm39) E457G probably benign Het
Spag17 A C 3: 99,847,298 (GRCm39) M76L probably benign Het
Spata31e2 C A 1: 26,721,395 (GRCm39) V1262F probably benign Het
Spata31e3 C T 13: 50,399,527 (GRCm39) G933E probably damaging Het
Sspo A T 6: 48,466,707 (GRCm39) E105V possibly damaging Het
Stoml3 T A 3: 53,412,866 (GRCm39) D173E possibly damaging Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Svil T C 18: 5,117,059 (GRCm39) W2165R probably damaging Het
Tbl2 T A 5: 135,186,454 (GRCm39) S184T possibly damaging Het
Tdrd7 A T 4: 45,965,474 (GRCm39) T31S probably benign Het
Tmeff1 A G 4: 48,614,960 (GRCm39) N139S possibly damaging Het
Trip13 T C 13: 74,076,043 (GRCm39) R199G probably damaging Het
Tshb G T 3: 102,684,831 (GRCm39) Y124* probably null Het
Ttn T C 2: 76,560,366 (GRCm39) E29345G probably damaging Het
Usp33 T A 3: 152,085,223 (GRCm39) S620T probably benign Het
Vipr1 G A 9: 121,497,540 (GRCm39) G353R probably damaging Het
Vipr1 G T 9: 121,497,541 (GRCm39) G353V probably damaging Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Ylpm1 T A 12: 85,062,192 (GRCm39) S240T probably damaging Het
Zfp772 A G 7: 7,206,629 (GRCm39) I354T probably benign Het
Zfp959 T A 17: 56,204,231 (GRCm39) Y86* probably null 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
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
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'- TGAGCAGACACCCTCTCATC -3'
(R):5'- GTTCAAGGACAGGCTCTGTG -3'

Sequencing Primer
(F):5'- AGACACCCTCTCATCCTGCC -3'
(R):5'- ACAGGCTCTGTGTTGGCTACC -3'
Posted On 2014-08-01