Incidental Mutation 'R9366:Cdc42bpa'
ID 708945
Institutional Source Beutler Lab
Gene Symbol Cdc42bpa
Ensembl Gene ENSMUSG00000026490
Gene Name CDC42 binding protein kinase alpha
Synonyms DMPK-like, A930014J19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R9366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 179788037-179993168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179921675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 605 (E605G)
Ref Sequence ENSEMBL: ENSMUSP00000106746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000134959] [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 damaging
Transcript: ENSMUST00000097450
AA Change: E605G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: E605G

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 damaging
Transcript: ENSMUST00000097453
AA Change: E605G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: E605G

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 damaging
Transcript: ENSMUST00000111117
AA Change: E605G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: E605G

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: ENSMUST00000134959
SMART Domains Protein: ENSMUSP00000142018
Gene: ENSMUSG00000026490

DomainStartEndE-ValueType
PDB:4AW2|A 2 90 1e-58 PDB
SCOP:d1koba_ 50 90 7e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212756
AA Change: E605G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C T 8: 71,914,328 (GRCm39) R100Q probably benign Het
Acp5 C T 9: 22,039,224 (GRCm39) C163Y probably damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Atp2b4 C A 1: 133,642,920 (GRCm39) G1062C probably damaging Het
Bicral A T 17: 47,117,558 (GRCm39) M788K possibly damaging Het
C1s2 C A 6: 124,602,694 (GRCm39) A506S probably benign Het
Capn9 C G 8: 125,332,280 (GRCm39) T417S probably benign Het
Cd109 T G 9: 78,622,275 (GRCm39) S1422A probably benign Het
Cd207 G T 6: 83,648,779 (GRCm39) N294K probably damaging Het
Cdhr1 C A 14: 36,811,463 (GRCm39) G216V possibly damaging Het
Ckap2 A T 8: 22,658,988 (GRCm39) M585K possibly damaging Het
Clp1 G T 2: 84,556,473 (GRCm39) S2R probably benign Het
Cngb3 G T 4: 19,395,983 (GRCm39) V342F probably benign Het
Col18a1 T C 10: 76,932,258 (GRCm39) D65G unknown Het
Col3a1 C T 1: 45,380,391 (GRCm39) P972S unknown Het
Cxcr5 C T 9: 44,424,730 (GRCm39) C309Y possibly damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcc A T 18: 71,708,281 (GRCm39) N478K probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Emsy A T 7: 98,290,860 (GRCm39) N101K probably benign Het
Epb41l5 A G 1: 119,548,448 (GRCm39) Y137H probably damaging Het
Etfdh C T 3: 79,519,271 (GRCm39) G354D probably benign Het
Fa2h A T 8: 112,076,006 (GRCm39) Y206N probably benign Het
Gabrr2 T C 4: 33,085,771 (GRCm39) V217A Het
Gimap4 A G 6: 48,668,037 (GRCm39) K264R probably benign Het
Gpr31b C A 17: 13,270,375 (GRCm39) D265Y probably damaging Het
Irx4 A G 13: 73,417,025 (GRCm39) T474A probably benign Het
Kif21a T C 15: 90,843,951 (GRCm39) E1096G probably damaging Het
Letm2 A T 8: 26,084,165 (GRCm39) V22E probably damaging Het
Lrrc45 A G 11: 120,611,552 (GRCm39) E642G probably damaging Het
Mark1 A T 1: 184,653,792 (GRCm39) V170E probably damaging Het
Mbd6 G A 10: 127,122,304 (GRCm39) Q175* probably null Het
Mrc1 T A 2: 14,321,709 (GRCm39) D1067E probably damaging Het
Muc5b A G 7: 141,417,041 (GRCm39) H3329R probably benign Het
Myh1 A T 11: 67,110,114 (GRCm39) D1434V probably damaging Het
Myo5a T A 9: 75,124,800 (GRCm39) L1785Q probably damaging Het
Myrfl A G 10: 116,670,358 (GRCm39) I295T possibly damaging Het
Nav3 C A 10: 109,659,364 (GRCm39) R751L probably damaging Het
Neb T C 2: 52,172,699 (GRCm39) K1536R probably benign Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Or13p3 A T 4: 118,566,831 (GRCm39) T76S probably damaging Het
Or5m8 A G 2: 85,822,731 (GRCm39) D190G possibly damaging Het
Or6c69c A T 10: 129,911,067 (GRCm39) K263* probably null Het
Parp14 A C 16: 35,659,630 (GRCm39) probably null Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pin1 C A 9: 20,566,841 (GRCm39) T81N probably damaging Het
Pkhd1l1 T C 15: 44,410,308 (GRCm39) I2605T probably benign Het
Plcb3 A G 19: 6,937,658 (GRCm39) probably null Het
Proser3 G A 7: 30,248,478 (GRCm39) S72L probably damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Pwp1 T A 10: 85,717,870 (GRCm39) N269K probably damaging Het
Qsox1 A G 1: 155,665,162 (GRCm39) S260P probably benign Het
Ric3 A G 7: 108,653,644 (GRCm39) L149P probably damaging Het
Rif1 A G 2: 52,010,356 (GRCm39) T707A Het
Rnf213 A C 11: 119,327,057 (GRCm39) R1682S Het
Rpgrip1l G T 8: 91,996,809 (GRCm39) Y690* probably null Het
Slc29a2 A G 19: 5,074,609 (GRCm39) T34A probably damaging Het
Slc6a1 A G 6: 114,280,974 (GRCm39) N176S possibly damaging Het
Slco1b2 T A 6: 141,602,552 (GRCm39) Y168* probably null Het
Snca C A 6: 60,792,675 (GRCm39) A78S probably benign Het
Snrnp200 T A 2: 127,058,010 (GRCm39) D257E probably benign Het
Srebf2 T C 15: 82,083,837 (GRCm39) V959A probably benign Het
Stk3 A C 15: 35,072,634 (GRCm39) I209S probably damaging Het
Thsd7a A T 6: 12,555,480 (GRCm39) C135S Het
Tlnrd1 G T 7: 83,531,582 (GRCm39) A283E probably benign Het
Tomm70a A T 16: 56,970,259 (GRCm39) K546* probably null Het
Trak1 C T 9: 121,301,578 (GRCm39) T778I probably damaging Het
Trappc9 T C 15: 72,808,937 (GRCm39) I709V probably benign Het
Trgc3 A G 13: 19,446,825 (GRCm39) T115A probably benign Het
Trp53rkb T C 2: 166,637,700 (GRCm39) S219P possibly damaging Het
Ubqlnl G C 7: 103,798,592 (GRCm39) L302V possibly damaging Het
Uqcc1 C A 2: 155,771,995 (GRCm39) probably benign Het
Vps13a G A 19: 16,672,894 (GRCm39) R1293W probably damaging Het
Vps9d1 G T 8: 123,974,486 (GRCm39) S267* probably null Het
Vwa5b1 A T 4: 138,318,229 (GRCm39) I546N probably damaging Het
Zbtb8b A T 4: 129,326,151 (GRCm39) M338K probably benign Het
Zfp652 C T 11: 95,643,833 (GRCm39) R344* probably null 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
R0268:Cdc42bpa UTSW 1 179,983,347 (GRCm39) intron probably benign
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
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'- GTCTCTAGGTTGCAGACTTGGTAAC -3'
(R):5'- TGAATGGCGAGATTCACAGTAG -3'

Sequencing Primer
(F):5'- TCAGAGGAAACTGGCCAT -3'
(R):5'- TGGCGAGATTCACAGTAGTTAATAG -3'
Posted On 2022-04-18