Incidental Mutation 'R0268:Cdc42bpa'
ID 35039
Institutional Source Beutler Lab
Gene Symbol Cdc42bpa
Ensembl Gene ENSMUSG00000026490
Gene Name CDC42 binding protein kinase alpha
Synonyms DMPK-like, A930014J19Rik
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # R0268 (G1)
Quality Score 152
Status Validated
Chromosome 1
Chromosomal Location 179788037-179993168 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 179983347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000212756]
AlphaFold Q3UU96
Predicted Effect probably benign
Transcript: ENSMUST00000076687
SMART Domains Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
S_TKc 77 343 1.06e-86 SMART
S_TK_X 344 406 1.18e-15 SMART
coiled coil region 435 588 N/A INTRINSIC
coiled coil region 632 735 N/A INTRINSIC
Pfam:DMPK_coil 800 860 2.7e-29 PFAM
C1 919 968 4.09e-7 SMART
PH 989 1109 6.02e-8 SMART
CNH 1134 1411 3.37e-17 SMART
low complexity region 1456 1468 N/A INTRINSIC
PBD 1477 1512 2.05e-10 SMART
low complexity region 1531 1546 N/A INTRINSIC
low complexity region 1567 1580 N/A INTRINSIC
low complexity region 1606 1620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097450
SMART Domains Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
S_TKc 77 343 1.06e-86 SMART
S_TK_X 344 406 1.18e-15 SMART
coiled coil region 435 669 N/A INTRINSIC
coiled coil region 713 816 N/A INTRINSIC
Pfam:DMPK_coil 881 941 2.2e-29 PFAM
C1 1000 1049 4.09e-7 SMART
PH 1070 1190 6.02e-8 SMART
CNH 1215 1492 3.37e-17 SMART
low complexity region 1537 1549 N/A INTRINSIC
PBD 1558 1593 2.05e-10 SMART
low complexity region 1612 1627 N/A INTRINSIC
low complexity region 1648 1661 N/A INTRINSIC
low complexity region 1687 1701 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097453
SMART Domains Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
S_TKc 77 343 1.06e-86 SMART
S_TK_X 344 406 1.18e-15 SMART
coiled coil region 435 669 N/A INTRINSIC
coiled coil region 713 816 N/A INTRINSIC
Pfam:DMPK_coil 881 941 2.5e-29 PFAM
C1 972 1021 4.09e-7 SMART
PH 1042 1162 6.02e-8 SMART
CNH 1187 1464 3.37e-17 SMART
low complexity region 1509 1521 N/A INTRINSIC
PBD 1530 1565 2.05e-10 SMART
low complexity region 1584 1599 N/A INTRINSIC
low complexity region 1620 1633 N/A INTRINSIC
low complexity region 1659 1673 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111117
SMART Domains Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
S_TKc 77 343 1.06e-86 SMART
S_TK_X 344 406 1.18e-15 SMART
low complexity region 484 499 N/A INTRINSIC
Pfam:KELK 529 608 1.1e-32 PFAM
coiled coil region 713 816 N/A INTRINSIC
Pfam:DMPK_coil 881 941 2.6e-29 PFAM
C1 1013 1062 4.09e-7 SMART
PH 1083 1203 6.02e-8 SMART
CNH 1228 1505 3.37e-17 SMART
low complexity region 1550 1562 N/A INTRINSIC
PBD 1571 1606 2.05e-10 SMART
low complexity region 1625 1640 N/A INTRINSIC
low complexity region 1661 1674 N/A INTRINSIC
low complexity region 1700 1714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133890
SMART Domains Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
coiled coil region 6 109 N/A INTRINSIC
Pfam:DMPK_coil 175 235 1.4e-29 PFAM
C1 329 378 4.09e-7 SMART
PH 399 519 6.02e-8 SMART
CNH 544 821 3.37e-17 SMART
low complexity region 866 878 N/A INTRINSIC
PBD 887 922 2.05e-10 SMART
low complexity region 941 956 N/A INTRINSIC
low complexity region 977 990 N/A INTRINSIC
low complexity region 1016 1030 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143176
SMART Domains Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
Pfam:DMPK_coil 84 144 1.3e-29 PFAM
C1 203 252 4.09e-7 SMART
PH 273 393 6.02e-8 SMART
CNH 418 695 3.37e-17 SMART
low complexity region 740 752 N/A INTRINSIC
PBD 761 796 1.02e-5 SMART
PBD 802 839 2.21e-1 SMART
low complexity region 877 892 N/A INTRINSIC
low complexity region 913 926 N/A INTRINSIC
low complexity region 952 966 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212756
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging Het
Other mutations in Cdc42bpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Cdc42bpa APN 1 179,933,686 (GRCm39) missense probably damaging 1.00
IGL00807:Cdc42bpa APN 1 179,969,018 (GRCm39) missense possibly damaging 0.88
IGL00972:Cdc42bpa APN 1 179,902,249 (GRCm39) missense probably benign 0.00
IGL01084:Cdc42bpa APN 1 179,969,839 (GRCm39) splice site probably benign
IGL01149:Cdc42bpa APN 1 179,902,137 (GRCm39) missense probably damaging 0.99
IGL01377:Cdc42bpa APN 1 179,892,708 (GRCm39) missense probably damaging 1.00
IGL01541:Cdc42bpa APN 1 179,978,723 (GRCm39) critical splice acceptor site probably null
IGL01657:Cdc42bpa APN 1 179,939,431 (GRCm39) missense probably benign 0.05
IGL01720:Cdc42bpa APN 1 179,938,847 (GRCm39) missense probably damaging 1.00
IGL02227:Cdc42bpa APN 1 179,921,989 (GRCm39) missense possibly damaging 0.64
IGL02234:Cdc42bpa APN 1 179,978,756 (GRCm39) nonsense probably null
IGL02253:Cdc42bpa APN 1 179,859,161 (GRCm39) splice site probably benign
IGL02587:Cdc42bpa APN 1 179,921,510 (GRCm39) missense possibly damaging 0.91
IGL02671:Cdc42bpa APN 1 179,889,387 (GRCm39) missense probably benign
IGL02746:Cdc42bpa APN 1 179,939,312 (GRCm39) missense possibly damaging 0.91
IGL02756:Cdc42bpa APN 1 179,936,824 (GRCm39) missense possibly damaging 0.77
IGL02994:Cdc42bpa APN 1 179,827,002 (GRCm39) missense probably damaging 1.00
IGL03073:Cdc42bpa APN 1 179,921,941 (GRCm39) splice site probably benign
IGL03295:Cdc42bpa APN 1 179,977,769 (GRCm39) missense probably benign 0.00
P0022:Cdc42bpa UTSW 1 179,788,841 (GRCm39) missense probably damaging 0.99
PIT4142001:Cdc42bpa UTSW 1 179,859,125 (GRCm39) missense probably damaging 1.00
R0125:Cdc42bpa UTSW 1 179,788,763 (GRCm39) missense probably damaging 1.00
R0472:Cdc42bpa UTSW 1 179,867,744 (GRCm39) missense probably damaging 1.00
R0492:Cdc42bpa UTSW 1 179,928,755 (GRCm39) missense probably benign 0.00
R0609:Cdc42bpa UTSW 1 179,867,744 (GRCm39) missense probably damaging 1.00
R0691:Cdc42bpa UTSW 1 179,972,400 (GRCm39) missense possibly damaging 0.91
R0738:Cdc42bpa UTSW 1 179,827,027 (GRCm39) splice site probably benign
R1547:Cdc42bpa UTSW 1 179,902,209 (GRCm39) missense probably damaging 0.99
R1553:Cdc42bpa UTSW 1 179,921,540 (GRCm39) missense probably benign 0.01
R1601:Cdc42bpa UTSW 1 179,892,566 (GRCm39) nonsense probably null
R1709:Cdc42bpa UTSW 1 179,894,789 (GRCm39) missense probably damaging 1.00
R2101:Cdc42bpa UTSW 1 179,974,533 (GRCm39) missense probably benign 0.39
R2279:Cdc42bpa UTSW 1 179,864,484 (GRCm39) missense probably damaging 0.99
R2357:Cdc42bpa UTSW 1 179,894,792 (GRCm39) missense possibly damaging 0.81
R2373:Cdc42bpa UTSW 1 179,939,349 (GRCm39) missense possibly damaging 0.78
R2570:Cdc42bpa UTSW 1 179,977,742 (GRCm39) missense possibly damaging 0.84
R3709:Cdc42bpa UTSW 1 179,892,628 (GRCm39) missense probably damaging 1.00
R3710:Cdc42bpa UTSW 1 179,892,628 (GRCm39) missense probably damaging 1.00
R3816:Cdc42bpa UTSW 1 179,972,451 (GRCm39) missense possibly damaging 0.80
R3854:Cdc42bpa UTSW 1 179,983,543 (GRCm39) intron probably benign
R3855:Cdc42bpa UTSW 1 179,983,543 (GRCm39) intron probably benign
R3917:Cdc42bpa UTSW 1 179,933,719 (GRCm39) critical splice donor site probably null
R4604:Cdc42bpa UTSW 1 179,936,759 (GRCm39) missense probably benign 0.00
R4622:Cdc42bpa UTSW 1 179,902,223 (GRCm39) missense probably damaging 0.98
R4664:Cdc42bpa UTSW 1 179,972,130 (GRCm39) missense probably damaging 0.99
R4665:Cdc42bpa UTSW 1 179,972,130 (GRCm39) missense probably damaging 0.99
R4887:Cdc42bpa UTSW 1 179,972,200 (GRCm39) missense possibly damaging 0.61
R4989:Cdc42bpa UTSW 1 179,965,366 (GRCm39) missense probably damaging 0.99
R5033:Cdc42bpa UTSW 1 179,892,580 (GRCm39) missense probably damaging 1.00
R5050:Cdc42bpa UTSW 1 179,900,018 (GRCm39) nonsense probably null
R5077:Cdc42bpa UTSW 1 179,922,098 (GRCm39) intron probably benign
R5196:Cdc42bpa UTSW 1 179,899,978 (GRCm39) missense probably benign 0.09
R5276:Cdc42bpa UTSW 1 179,965,415 (GRCm39) missense probably damaging 1.00
R5313:Cdc42bpa UTSW 1 179,911,998 (GRCm39) missense probably benign
R5364:Cdc42bpa UTSW 1 179,894,747 (GRCm39) missense probably benign 0.06
R5372:Cdc42bpa UTSW 1 179,892,544 (GRCm39) missense probably damaging 1.00
R5405:Cdc42bpa UTSW 1 179,966,085 (GRCm39) missense possibly damaging 0.95
R5405:Cdc42bpa UTSW 1 179,894,894 (GRCm39) missense probably damaging 1.00
R5646:Cdc42bpa UTSW 1 179,933,659 (GRCm39) missense probably damaging 0.99
R5713:Cdc42bpa UTSW 1 179,911,975 (GRCm39) missense probably benign 0.03
R6012:Cdc42bpa UTSW 1 179,892,655 (GRCm39) missense probably damaging 1.00
R6029:Cdc42bpa UTSW 1 179,939,352 (GRCm39) missense probably damaging 1.00
R6378:Cdc42bpa UTSW 1 179,921,561 (GRCm39) missense possibly damaging 0.91
R6609:Cdc42bpa UTSW 1 179,928,839 (GRCm39) critical splice donor site probably null
R7122:Cdc42bpa UTSW 1 179,892,583 (GRCm39) missense probably damaging 1.00
R7289:Cdc42bpa UTSW 1 179,889,362 (GRCm39) nonsense probably null
R7670:Cdc42bpa UTSW 1 179,892,646 (GRCm39) missense probably damaging 1.00
R7912:Cdc42bpa UTSW 1 179,921,578 (GRCm39) missense probably damaging 1.00
R8139:Cdc42bpa UTSW 1 179,896,884 (GRCm39) missense probably damaging 1.00
R8362:Cdc42bpa UTSW 1 179,989,690 (GRCm39) missense probably damaging 0.98
R8378:Cdc42bpa UTSW 1 179,989,709 (GRCm39) missense probably damaging 0.98
R8794:Cdc42bpa UTSW 1 179,894,816 (GRCm39) missense probably damaging 1.00
R8835:Cdc42bpa UTSW 1 179,896,916 (GRCm39) missense probably damaging 1.00
R8896:Cdc42bpa UTSW 1 179,958,373 (GRCm39) intron probably benign
R9012:Cdc42bpa UTSW 1 179,859,077 (GRCm39) missense
R9110:Cdc42bpa UTSW 1 179,945,258 (GRCm39) missense possibly damaging 0.67
R9178:Cdc42bpa UTSW 1 179,958,401 (GRCm39) missense
R9184:Cdc42bpa UTSW 1 179,972,301 (GRCm39) missense probably benign 0.13
R9204:Cdc42bpa UTSW 1 179,939,460 (GRCm39) critical splice donor site probably null
R9227:Cdc42bpa UTSW 1 179,933,638 (GRCm39) missense probably benign
R9230:Cdc42bpa UTSW 1 179,933,638 (GRCm39) missense probably benign
R9299:Cdc42bpa UTSW 1 179,972,073 (GRCm39) missense probably damaging 1.00
R9366:Cdc42bpa UTSW 1 179,921,675 (GRCm39) missense probably damaging 1.00
R9381:Cdc42bpa UTSW 1 179,969,048 (GRCm39) missense probably damaging 0.97
R9461:Cdc42bpa UTSW 1 179,969,861 (GRCm39) missense probably damaging 1.00
R9559:Cdc42bpa UTSW 1 179,939,459 (GRCm39) critical splice donor site probably null
X0026:Cdc42bpa UTSW 1 179,788,763 (GRCm39) missense probably damaging 1.00
Z1176:Cdc42bpa UTSW 1 179,892,658 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGAAGCCATGCTGCTACTCGCTC -3'
(R):5'- CGCCACCTCAGTGGTTAGAAAATGC -3'

Sequencing Primer
(F):5'- GCTCAGTTCCGGTAACATGG -3'
(R):5'- GCACACTCCGTTAGTTAGTCAAG -3'
Posted On 2013-05-09