Incidental Mutation 'R4361:Cdc42ep5'
ID 324910
Institutional Source Beutler Lab
Gene Symbol Cdc42ep5
Ensembl Gene ENSMUSG00000063838
Gene Name CDC42 effector protein 5
Synonyms 2010007O02Rik, 1700027J19Rik, Borg3, CEP5
MMRRC Submission 041112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R4361 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4154259-4167830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4154779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000117257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000076831] [ENSMUST00000121270] [ENSMUST00000140410] [ENSMUST00000143825]
AlphaFold Q9Z0X0
Predicted Effect probably benign
Transcript: ENSMUST00000037472
SMART Domains Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 762 8.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058358
SMART Domains Protein: ENSMUSP00000061079
Gene: ENSMUSG00000043432

DomainStartEndE-ValueType
ZnF_C3H1 8 34 1.72e-4 SMART
Pfam:DUF504 77 128 1.9e-11 PFAM
Pfam:AKAP7_NLS 305 484 2.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076831
AA Change: V3A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000092508
Gene: ENSMUSG00000063838
AA Change: V3A

DomainStartEndE-ValueType
PBD 23 57 5.86e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121270
SMART Domains Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 764 7.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127723
Predicted Effect probably benign
Transcript: ENSMUST00000140410
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000143825
AA Change: V3A

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117257
Gene: ENSMUSG00000063838
AA Change: V3A

DomainStartEndE-ValueType
PBD 23 57 5.86e-6 SMART
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,688 (GRCm39) T538A probably damaging Het
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Aadac T A 3: 59,947,182 (GRCm39) S293R probably benign Het
Cc2d1b G A 4: 108,481,947 (GRCm39) probably benign Het
Ccdc157 C T 11: 4,096,550 (GRCm39) A400T probably damaging Het
Cyp11b1 T A 15: 74,710,865 (GRCm39) M232L possibly damaging Het
Dhrs2 G A 14: 55,478,646 (GRCm39) D264N probably damaging Het
Dram2 T C 3: 106,473,531 (GRCm39) probably benign Het
Dtx4 C A 19: 12,462,660 (GRCm39) S373I probably benign Het
Eif4a1 G A 11: 69,558,290 (GRCm39) probably benign Het
Eps15 T C 4: 109,237,228 (GRCm39) probably null Het
Fam135b T A 15: 71,362,676 (GRCm39) Q235L probably damaging Het
Fgfr3 T C 5: 33,880,676 (GRCm39) probably benign Het
Gabra4 C T 5: 71,790,888 (GRCm39) probably null Het
Gins1 A G 2: 150,767,821 (GRCm39) Y117C probably damaging Het
Gm12253 T A 11: 58,325,687 (GRCm39) S53T probably benign Het
Gne C A 4: 44,059,947 (GRCm39) A149S possibly damaging Het
Gpc2 A T 5: 138,276,552 (GRCm39) C191* probably null Het
Has2 G T 15: 56,545,344 (GRCm39) A86E probably damaging Het
Ift80 A T 3: 68,870,982 (GRCm39) S205T probably damaging Het
Irx5 G T 8: 93,085,025 (GRCm39) A72S probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kcnt1 A T 2: 25,768,044 (GRCm39) Q51L probably benign Het
Klk1b11 A G 7: 43,645,378 (GRCm39) probably null Het
Kmt2d T G 15: 98,761,551 (GRCm39) M600L unknown Het
Lmtk2 T A 5: 144,084,482 (GRCm39) S172R probably damaging Het
Lrrc37 CTTTT CTTTTT 11: 103,508,327 (GRCm39) probably null Het
Lrrc46 G A 11: 96,925,496 (GRCm39) probably benign Het
Mab21l2 C T 3: 86,454,497 (GRCm39) V168M probably damaging Het
Magea3 A C X: 153,731,850 (GRCm39) C218G possibly damaging Het
Magea3 C A X: 153,731,849 (GRCm39) C218F probably benign Het
Man1a2 T C 3: 100,563,358 (GRCm39) K96E probably benign Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Myf6 GGGGGCAG GG 10: 107,330,293 (GRCm39) probably benign Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nav1 G A 1: 135,535,175 (GRCm39) probably benign Het
Nav3 T C 10: 109,688,847 (GRCm39) K477E probably damaging Het
Nup98 T A 7: 101,794,921 (GRCm39) H862L probably damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcnx2 G T 8: 126,495,037 (GRCm39) S1608* probably null Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Ren1 A G 1: 133,286,779 (GRCm39) I303V probably benign Het
Retreg3 T A 11: 100,994,713 (GRCm39) probably null Het
Rnf6 C A 5: 146,148,089 (GRCm39) V310F probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scrn2 C T 11: 96,923,064 (GRCm39) A169V probably null Het
Slc4a10 T C 2: 62,073,729 (GRCm39) S264P probably benign Het
Tex26 A T 5: 149,384,388 (GRCm39) Q102L probably benign Het
Tex38 A G 4: 115,637,420 (GRCm39) S128P probably benign Het
Trmt1l A G 1: 151,311,626 (GRCm39) probably benign Het
Tyr G T 7: 87,078,284 (GRCm39) H525Q probably benign Het
Veph1 T C 3: 66,066,737 (GRCm39) N417S probably benign Het
Zfp597 A T 16: 3,683,764 (GRCm39) S331T probably damaging Het
Other mutations in Cdc42ep5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02255:Cdc42ep5 APN 7 4,154,399 (GRCm39) nonsense probably null
R0417:Cdc42ep5 UTSW 7 4,154,482 (GRCm39) missense probably damaging 0.99
R1605:Cdc42ep5 UTSW 7 4,154,395 (GRCm39) missense probably benign 0.15
R4696:Cdc42ep5 UTSW 7 4,154,614 (GRCm39) missense possibly damaging 0.60
R7246:Cdc42ep5 UTSW 7 4,154,473 (GRCm39) missense possibly damaging 0.92
Z1176:Cdc42ep5 UTSW 7 4,154,725 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACACTACAGACCGATGACGTC -3'
(R):5'- ACCTTGAGAACCTCCCAGTCTG -3'

Sequencing Primer
(F):5'- TCAGCATTTGAGCAGCAGC -3'
(R):5'- GAGAACCTCCCAGTCTGCTTCC -3'
Posted On 2015-07-06