Incidental Mutation 'R1476:Cdc42bpg'
ID 164104
Institutional Source Beutler Lab
Gene Symbol Cdc42bpg
Ensembl Gene ENSMUSG00000024769
Gene Name CDC42 binding protein kinase gamma
Synonyms MRCKgamma
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6356486-6375682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6363812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 493 (D493G)
Ref Sequence ENSEMBL: ENSMUSP00000025681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025681]
AlphaFold Q80UW5
Predicted Effect probably damaging
Transcript: ENSMUST00000025681
AA Change: D493G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D493G

DomainStartEndE-ValueType
low complexity region 21 31 N/A INTRINSIC
S_TKc 71 337 1.63e-87 SMART
S_TK_X 338 400 7.85e-12 SMART
coiled coil region 444 551 N/A INTRINSIC
coiled coil region 630 675 N/A INTRINSIC
Pfam:DMPK_coil 743 801 4.6e-21 PFAM
low complexity region 861 873 N/A INTRINSIC
C1 878 926 1.78e-7 SMART
PH 947 1067 3.57e-10 SMART
Pfam:CNH 1096 1362 7.5e-56 PFAM
low complexity region 1401 1412 N/A INTRINSIC
low complexity region 1535 1551 N/A INTRINSIC
Meta Mutation Damage Score 0.1039 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null Het
Other mutations in Cdc42bpg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Cdc42bpg APN 19 6,362,235 (GRCm39) splice site probably benign
IGL01415:Cdc42bpg APN 19 6,360,881 (GRCm39) missense probably damaging 1.00
IGL01517:Cdc42bpg APN 19 6,368,467 (GRCm39) missense probably damaging 1.00
IGL01585:Cdc42bpg APN 19 6,370,462 (GRCm39) missense possibly damaging 0.93
IGL01743:Cdc42bpg APN 19 6,359,853 (GRCm39) critical splice donor site probably null
IGL01930:Cdc42bpg APN 19 6,361,398 (GRCm39) missense probably damaging 1.00
IGL02092:Cdc42bpg APN 19 6,366,856 (GRCm39) splice site probably benign
IGL02355:Cdc42bpg APN 19 6,360,839 (GRCm39) missense possibly damaging 0.93
IGL02362:Cdc42bpg APN 19 6,360,839 (GRCm39) missense possibly damaging 0.93
IGL02498:Cdc42bpg APN 19 6,372,823 (GRCm39) missense probably benign
IGL03004:Cdc42bpg APN 19 6,361,413 (GRCm39) missense probably benign 0.38
IGL03037:Cdc42bpg APN 19 6,361,230 (GRCm39) missense probably damaging 1.00
PIT1430001:Cdc42bpg UTSW 19 6,372,582 (GRCm39) splice site probably null
R0304:Cdc42bpg UTSW 19 6,367,278 (GRCm39) missense probably damaging 0.99
R0367:Cdc42bpg UTSW 19 6,361,425 (GRCm39) missense probably damaging 1.00
R0412:Cdc42bpg UTSW 19 6,363,487 (GRCm39) missense probably damaging 1.00
R0742:Cdc42bpg UTSW 19 6,368,605 (GRCm39) critical splice donor site probably null
R1026:Cdc42bpg UTSW 19 6,367,217 (GRCm39) missense probably damaging 1.00
R1056:Cdc42bpg UTSW 19 6,364,051 (GRCm39) missense probably benign 0.10
R1065:Cdc42bpg UTSW 19 6,372,856 (GRCm39) missense probably damaging 1.00
R1854:Cdc42bpg UTSW 19 6,370,837 (GRCm39) missense possibly damaging 0.67
R1936:Cdc42bpg UTSW 19 6,360,339 (GRCm39) missense probably damaging 1.00
R1962:Cdc42bpg UTSW 19 6,356,885 (GRCm39) missense probably damaging 1.00
R2070:Cdc42bpg UTSW 19 6,370,518 (GRCm39) missense probably damaging 1.00
R2167:Cdc42bpg UTSW 19 6,367,707 (GRCm39) missense probably damaging 1.00
R3826:Cdc42bpg UTSW 19 6,367,675 (GRCm39) missense probably damaging 0.99
R3829:Cdc42bpg UTSW 19 6,367,675 (GRCm39) missense probably damaging 0.99
R4190:Cdc42bpg UTSW 19 6,371,711 (GRCm39) missense probably damaging 1.00
R4249:Cdc42bpg UTSW 19 6,365,296 (GRCm39) missense possibly damaging 0.65
R4499:Cdc42bpg UTSW 19 6,370,585 (GRCm39) missense possibly damaging 0.69
R4731:Cdc42bpg UTSW 19 6,361,221 (GRCm39) missense probably damaging 1.00
R4732:Cdc42bpg UTSW 19 6,361,221 (GRCm39) missense probably damaging 1.00
R4733:Cdc42bpg UTSW 19 6,361,221 (GRCm39) missense probably damaging 1.00
R4797:Cdc42bpg UTSW 19 6,370,477 (GRCm39) missense probably damaging 1.00
R4831:Cdc42bpg UTSW 19 6,361,365 (GRCm39) missense probably damaging 0.97
R4984:Cdc42bpg UTSW 19 6,366,253 (GRCm39) missense possibly damaging 0.88
R5092:Cdc42bpg UTSW 19 6,363,250 (GRCm39) missense probably benign 0.01
R5135:Cdc42bpg UTSW 19 6,370,648 (GRCm39) missense probably damaging 1.00
R5183:Cdc42bpg UTSW 19 6,371,835 (GRCm39) intron probably benign
R5208:Cdc42bpg UTSW 19 6,371,750 (GRCm39) missense probably benign 0.01
R5240:Cdc42bpg UTSW 19 6,365,929 (GRCm39) missense probably damaging 1.00
R5475:Cdc42bpg UTSW 19 6,361,101 (GRCm39) missense probably damaging 0.99
R5703:Cdc42bpg UTSW 19 6,372,703 (GRCm39) missense possibly damaging 0.87
R5876:Cdc42bpg UTSW 19 6,360,845 (GRCm39) missense probably damaging 1.00
R6024:Cdc42bpg UTSW 19 6,367,526 (GRCm39) missense probably damaging 1.00
R6266:Cdc42bpg UTSW 19 6,361,503 (GRCm39) missense probably damaging 1.00
R6450:Cdc42bpg UTSW 19 6,364,518 (GRCm39) splice site probably null
R6493:Cdc42bpg UTSW 19 6,368,485 (GRCm39) missense probably damaging 0.96
R6983:Cdc42bpg UTSW 19 6,371,698 (GRCm39) missense probably damaging 1.00
R7080:Cdc42bpg UTSW 19 6,365,219 (GRCm39) missense probably damaging 0.97
R7125:Cdc42bpg UTSW 19 6,372,321 (GRCm39) missense probably damaging 1.00
R7183:Cdc42bpg UTSW 19 6,360,827 (GRCm39) missense probably damaging 1.00
R7317:Cdc42bpg UTSW 19 6,364,534 (GRCm39) missense probably benign 0.11
R7426:Cdc42bpg UTSW 19 6,368,428 (GRCm39) missense probably damaging 1.00
R7504:Cdc42bpg UTSW 19 6,356,814 (GRCm39) missense possibly damaging 0.85
R7530:Cdc42bpg UTSW 19 6,372,306 (GRCm39) missense probably benign 0.12
R7530:Cdc42bpg UTSW 19 6,372,305 (GRCm39) missense probably benign 0.21
R7739:Cdc42bpg UTSW 19 6,360,845 (GRCm39) missense probably damaging 1.00
R7903:Cdc42bpg UTSW 19 6,363,499 (GRCm39) missense possibly damaging 0.94
R8186:Cdc42bpg UTSW 19 6,356,895 (GRCm39) missense probably damaging 1.00
R8331:Cdc42bpg UTSW 19 6,363,477 (GRCm39) missense probably benign 0.08
R8870:Cdc42bpg UTSW 19 6,364,550 (GRCm39) missense possibly damaging 0.94
R9014:Cdc42bpg UTSW 19 6,372,289 (GRCm39) missense possibly damaging 0.88
R9256:Cdc42bpg UTSW 19 6,361,067 (GRCm39) missense probably damaging 1.00
R9263:Cdc42bpg UTSW 19 6,372,149 (GRCm39) missense probably damaging 1.00
R9343:Cdc42bpg UTSW 19 6,364,553 (GRCm39) missense probably damaging 1.00
R9423:Cdc42bpg UTSW 19 6,363,329 (GRCm39) missense probably damaging 1.00
R9565:Cdc42bpg UTSW 19 6,370,696 (GRCm39) missense probably damaging 1.00
R9667:Cdc42bpg UTSW 19 6,370,115 (GRCm39) missense probably benign 0.00
Z1177:Cdc42bpg UTSW 19 6,364,553 (GRCm39) missense probably damaging 1.00
Z1177:Cdc42bpg UTSW 19 6,364,552 (GRCm39) missense possibly damaging 0.94
Z1177:Cdc42bpg UTSW 19 6,359,776 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCTTCAGAAGGAAGTACAGGTTC -3'
(R):5'- TCAGCATCCTGCACTCGCAATG -3'

Sequencing Primer
(F):5'- GTGCAGAAAGTCCTCTGAGATCC -3'
(R):5'- GCAATGCTGCCTGAGCTTC -3'
Posted On 2014-03-28