Incidental Mutation 'R8378:Cdc42bpa'
ID 646792
Institutional Source Beutler Lab
Gene Symbol Cdc42bpa
Ensembl Gene ENSMUSG00000026490
Gene Name CDC42 binding protein kinase alpha
Synonyms DMPK-like, A930014J19Rik
MMRRC Submission 067746-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R8378 (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 179989709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1726 (D1726G)
Ref Sequence ENSEMBL: ENSMUSP00000106746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027766] [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000160879] [ENSMUST00000170472] [ENSMUST00000212756]
AlphaFold Q3UU96
Predicted Effect probably benign
Transcript: ENSMUST00000027766
SMART Domains Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:ABC1 315 431 5.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076687
AA Change: D1632G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: D1632G

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: D1713G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: D1713G

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: D1685G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: D1685G

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: D1726G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: D1726G

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
SMART Domains Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: D1041G

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
SMART Domains Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: D977G

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: ENSMUST00000160879
SMART Domains Protein: ENSMUSP00000141948
Gene: ENSMUSG00000026489

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170472
SMART Domains Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:ABC1 315 431 5.1e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212756
AA Change: D1742G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,886,967 (GRCm39) I491T probably damaging Het
Aadacl4fm4 C G 4: 144,397,169 (GRCm39) V188L probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Ap1s3 T C 1: 79,601,445 (GRCm39) E82G probably damaging Het
Bmp3 A G 5: 99,003,248 (GRCm39) N93D probably damaging Het
Car9 C T 4: 43,509,021 (GRCm39) R224C probably damaging Het
Cass4 T C 2: 172,269,714 (GRCm39) C599R probably benign Het
Ccdc171 A G 4: 83,782,490 (GRCm39) N1261D possibly damaging Het
Ceacam2 G A 7: 25,217,597 (GRCm39) A306V probably damaging Het
Crebrf G T 17: 26,981,263 (GRCm39) L546F probably damaging Het
Crhr2 A G 6: 55,069,941 (GRCm39) F370S probably damaging Het
Dhtkd1 T C 2: 5,922,699 (GRCm39) T487A probably benign Het
Diaph1 G A 18: 38,025,006 (GRCm39) A485V unknown Het
Dmbt1 T C 7: 130,708,195 (GRCm39) V1479A probably damaging Het
Efemp1 C T 11: 28,871,765 (GRCm39) R427W probably damaging Het
Gm11444 C A 11: 85,741,075 (GRCm39) W28L Het
Golga4 A G 9: 118,387,390 (GRCm39) D1504G probably benign Het
Hirip3 A G 7: 126,462,757 (GRCm39) S238G probably benign Het
Igkv1-135 T A 6: 67,587,378 (GRCm39) V83D possibly damaging Het
Ippk T A 13: 49,589,055 (GRCm39) C183* probably null Het
Itgb3 A G 11: 104,533,142 (GRCm39) T419A possibly damaging Het
Kcnt1 A G 2: 25,797,283 (GRCm39) H129R probably benign Het
Kif18b A T 11: 102,807,299 (GRCm39) V12E probably damaging Het
Kif2b C A 11: 91,467,201 (GRCm39) G361C possibly damaging Het
Klhl30 A T 1: 91,285,494 (GRCm39) K339* probably null Het
Lrfn1 A G 7: 28,159,157 (GRCm39) I359V probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufaf2 C A 13: 108,189,387 (GRCm39) L120F probably damaging Het
Nlrp1b A G 11: 71,052,545 (GRCm39) V961A possibly damaging Het
Or12e10 T A 2: 87,640,394 (GRCm39) Y77N probably damaging Het
Or2h15 A G 17: 38,441,678 (GRCm39) V135A probably benign Het
Pcnx2 G A 8: 126,487,649 (GRCm39) P1785S probably damaging Het
Pcyt2 A G 11: 120,504,234 (GRCm39) Y170H probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Rfx8 T A 1: 39,709,581 (GRCm39) D482V probably damaging Het
Rilpl1 T C 5: 124,668,964 (GRCm39) Y28C probably damaging Het
Sgce G C 6: 4,689,760 (GRCm39) L394V probably damaging Het
Sgce T A 6: 4,691,525 (GRCm39) Y350F probably benign Het
Tbk1 A G 10: 121,414,597 (GRCm39) V39A probably damaging Het
Tns1 T A 1: 73,976,405 (GRCm39) I1148F probably damaging Het
Vmn1r192 T A 13: 22,372,029 (GRCm39) R64* probably null Het
Vmn2r68 A T 7: 84,871,108 (GRCm39) V725E probably benign Het
Yy1 A T 12: 108,759,562 (GRCm39) H75L unknown Het
Zwilch A T 9: 64,060,240 (GRCm39) V366D possibly 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
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
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'- ATCTCATGGAGGAGCTGTCTGC -3'
(R):5'- TCTACAGAAGCTACCTGGGG -3'

Sequencing Primer
(F):5'- TCTGCTGACACGCATGG -3'
(R):5'- AAGCTACCTGGGGGTTGAG -3'
Posted On 2020-09-02