Incidental Mutation 'IGL00972:Cdc42bpa'
ID 26751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc42bpa
Ensembl Gene ENSMUSG00000026490
Gene Name CDC42 binding protein kinase alpha
Synonyms DMPK-like, A930014J19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # IGL00972
Quality Score
Status
Chromosome 1
Chromosomal Location 179788037-179993168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179902249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 502 (Q502R)
Ref Sequence ENSEMBL: ENSMUSP00000095059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000134959] [ENSMUST00000212756]
AlphaFold Q3UU96
Predicted Effect probably benign
Transcript: ENSMUST00000076687
AA Change: Q502R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: Q502R

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
AA Change: Q502R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: Q502R

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
AA Change: Q502R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: Q502R

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
AA Change: Q502R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: Q502R

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 benign
Transcript: ENSMUST00000212756
AA Change: Q502R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K 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
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
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
Posted On 2013-04-17