Incidental Mutation 'R2357:Cdc42bpa'
ID 247411
Institutional Source Beutler Lab
Gene Symbol Cdc42bpa
Ensembl Gene ENSMUSG00000026490
Gene Name CDC42 binding protein kinase alpha
Synonyms DMPK-like, A930014J19Rik
MMRRC Submission 040339-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R2357 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 179788037-179993168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179894792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 324 (S324N)
Ref Sequence ENSEMBL: ENSMUSP00000075980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000134959] [ENSMUST00000212756]
AlphaFold Q3UU96
Predicted Effect possibly damaging
Transcript: ENSMUST00000076687
AA Change: S324N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: S324N

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 possibly damaging
Transcript: ENSMUST00000097450
AA Change: S324N

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: S324N

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 possibly damaging
Transcript: ENSMUST00000097453
AA Change: S324N

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: S324N

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 possibly damaging
Transcript: ENSMUST00000111117
AA Change: S324N

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: S324N

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 possibly damaging
Transcript: ENSMUST00000212756
AA Change: S324N

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,569,844 (GRCm39) T520K possibly damaging Het
Abca13 T C 11: 9,247,336 (GRCm39) L2361P probably damaging Het
Acsl6 T A 11: 54,218,106 (GRCm39) M248K probably damaging Het
Adam11 G T 11: 102,665,334 (GRCm39) V467L probably benign Het
Afap1 C T 5: 36,141,618 (GRCm39) H501Y probably damaging Het
Ankrd28 A T 14: 31,486,251 (GRCm39) Y22* probably null Het
Ccdc124 A T 8: 71,321,179 (GRCm39) L187Q probably damaging Het
Cgnl1 T A 9: 71,632,950 (GRCm39) K134* probably null Het
Cnpy3 G T 17: 47,062,909 (GRCm39) S47R probably damaging Het
Cpne8 A T 15: 90,503,877 (GRCm39) L96Q probably damaging Het
Crisp3 A T 17: 40,533,396 (GRCm39) Y212N probably damaging Het
Cryba1 A T 11: 77,613,427 (GRCm39) probably benign Het
Cyc1 A G 15: 76,229,766 (GRCm39) M288V possibly damaging Het
Dnah8 T A 17: 30,990,846 (GRCm39) D3296E probably benign Het
Dnah8 A G 17: 31,093,909 (GRCm39) T4668A probably benign Het
Dnajb6 T A 5: 29,958,638 (GRCm39) F113I probably damaging Het
Dync2h1 A G 9: 7,081,053 (GRCm39) I2881T probably benign Het
Eps8l1 T C 7: 4,473,354 (GRCm39) S179P probably benign Het
Esco2 C A 14: 66,064,000 (GRCm39) A395S probably benign Het
Evi5l T C 8: 4,243,113 (GRCm39) probably benign Het
Exoc6b T C 6: 84,966,321 (GRCm39) T218A possibly damaging Het
Gde1 A T 7: 118,290,814 (GRCm39) F170L probably benign Het
Ggt5 A C 10: 75,445,075 (GRCm39) I361L probably benign Het
Golga3 C T 5: 110,350,514 (GRCm39) T683M probably damaging Het
Golgb1 A G 16: 36,732,370 (GRCm39) Q539R probably damaging Het
Grm2 A G 9: 106,524,780 (GRCm39) V645A probably damaging Het
Gtf2h4 A T 17: 35,978,891 (GRCm39) V408D probably damaging Het
Gucy1a2 A T 9: 3,797,299 (GRCm39) H583L probably damaging Het
Hivep2 C T 10: 14,019,043 (GRCm39) A1938V probably benign Het
Iars1 T C 13: 49,841,679 (GRCm39) Y56H probably damaging Het
Il17re A G 6: 113,445,431 (GRCm39) I381V possibly damaging Het
Klrd1 T A 6: 129,573,872 (GRCm39) *71K probably null Het
Kng1 A T 16: 22,897,815 (GRCm39) Y405F possibly damaging Het
Kptn G T 7: 15,859,709 (GRCm39) C311F probably damaging Het
Lama5 T C 2: 179,821,890 (GRCm39) I2982V probably benign Het
Mamstr G T 7: 45,291,754 (GRCm39) D35Y probably damaging Het
Mdc1 A G 17: 36,158,337 (GRCm39) D239G probably benign Het
Mindy3 T G 2: 12,408,987 (GRCm39) probably benign Het
Mrpl39 A T 16: 84,524,452 (GRCm39) H204Q probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo5a T A 9: 75,108,647 (GRCm39) M1476K probably damaging Het
Nol4 A G 18: 23,172,967 (GRCm39) S45P probably benign Het
Nol8 T C 13: 49,807,980 (GRCm39) probably null Het
Or4f61 A G 2: 111,922,743 (GRCm39) I101T possibly damaging Het
Or5d18 A T 2: 87,865,028 (GRCm39) W152R probably damaging Het
Or6c207 C A 10: 129,104,642 (GRCm39) K183N probably benign Het
Or8b56 T C 9: 38,739,634 (GRCm39) S216P probably benign Het
Plau T A 14: 20,888,683 (GRCm39) V100D probably damaging Het
Plpp7 T C 2: 31,999,654 (GRCm39) V6A probably benign Het
Prr14 T C 7: 127,074,535 (GRCm39) S356P probably benign Het
Rabl3 A G 16: 37,362,293 (GRCm39) D44G probably null Het
Rasa4 T C 5: 136,120,101 (GRCm39) V59A probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rictor A T 15: 6,813,043 (GRCm39) N932I probably damaging Het
Rpl9-ps6 A G 19: 32,443,743 (GRCm39) V70A probably benign Het
S100a7l2 A T 3: 90,995,733 (GRCm39) S56R probably benign Het
St3gal1 A G 15: 66,985,631 (GRCm39) Y8H probably benign Het
Strn G A 17: 78,963,028 (GRCm39) T745I probably damaging Het
Tbx15 C T 3: 99,223,672 (GRCm39) probably null Het
Tbx20 T A 9: 24,681,072 (GRCm39) D140V possibly damaging Het
Ttn A C 2: 76,666,923 (GRCm39) Y42* probably null Het
Usp9y G A Y: 1,394,050 (GRCm39) T560I possibly damaging Het
Vmn2r111 A G 17: 22,778,151 (GRCm39) probably benign Het
Vps13d GG GGGGGG 4: 144,801,547 (GRCm39) probably null Het
Wfdc12 A T 2: 164,032,170 (GRCm39) I40N probably damaging Het
Zfp78 G A 7: 6,382,056 (GRCm39) G369R 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
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
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'- TGTCACTGCTAAGTCATCAAACAC -3'
(R):5'- CAGCAGGACAGGACATCTTC -3'

Sequencing Primer
(F):5'- ACACTTAGTAGACACTTTTCTAAGGG -3'
(R):5'- GCAGGACAGGACATCTTCATAATGTC -3'
Posted On 2014-11-11