Incidental Mutation 'R7246:Cdc42ep5'
ID 563540
Institutional Source Beutler Lab
Gene Symbol Cdc42ep5
Ensembl Gene ENSMUSG00000063838
Gene Name CDC42 effector protein 5
Synonyms 2010007O02Rik, 1700027J19Rik, Borg3, CEP5
MMRRC Submission 045309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7246 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4154259-4167830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4154473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000092508 (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 possibly damaging
Transcript: ENSMUST00000076831
AA Change: V105A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092508
Gene: ENSMUSG00000063838
AA Change: V105A

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 probably benign
Transcript: ENSMUST00000140410
Predicted Effect probably benign
Transcript: ENSMUST00000143825
SMART Domains Protein: ENSMUSP00000117257
Gene: ENSMUSG00000063838

DomainStartEndE-ValueType
PBD 23 57 5.86e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (74/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,902 (GRCm39) S318R probably damaging Het
Abce1 A T 8: 80,429,698 (GRCm39) N74K probably damaging Het
Akr1b7 T A 6: 34,392,404 (GRCm39) D72E probably benign Het
Amer3 T A 1: 34,625,809 (GRCm39) I16N possibly damaging Het
Atp6v0d1 T C 8: 106,257,606 (GRCm39) N108D probably damaging Het
Avpr1b T C 1: 131,528,008 (GRCm39) V177A probably damaging Het
B020011L13Rik A T 1: 117,728,969 (GRCm39) K159* probably null Het
Bpifb1 T C 2: 154,049,012 (GRCm39) L172P probably damaging Het
Brca1 G A 11: 101,414,204 (GRCm39) T1310I probably benign Het
C130074G19Rik C A 1: 184,615,166 (GRCm39) R8L probably damaging Het
Ccdc178 T C 18: 22,242,811 (GRCm39) H268R possibly damaging Het
Cntn4 T C 6: 106,483,180 (GRCm39) L245P probably damaging Het
Crtac1 T C 19: 42,276,365 (GRCm39) E521G probably benign Het
Cts7 T A 13: 61,503,394 (GRCm39) N190I probably damaging Het
Cul7 A G 17: 46,972,993 (GRCm39) E1368G probably benign Het
Dhrs7l A T 12: 72,666,266 (GRCm39) M89K possibly damaging Het
Dpp10 G A 1: 123,262,106 (GRCm39) P759S probably damaging Het
Etf1 A G 18: 35,064,964 (GRCm39) S11P unknown Het
Exd2 G T 12: 80,527,309 (GRCm39) L167F probably damaging Het
Exoc8 T A 8: 125,623,156 (GRCm39) R404* probably null Het
Fat2 T C 11: 55,187,208 (GRCm39) T1213A probably benign Het
Fgfr2 T C 7: 129,844,136 (GRCm39) Het
Gtf3c1 T A 7: 125,268,266 (GRCm39) Het
Id2 T A 12: 25,145,820 (GRCm39) I64F probably damaging Het
Idh3a G T 9: 54,499,756 (GRCm39) A75S probably damaging Het
Ift70a2 A G 2: 75,808,023 (GRCm39) L163P probably damaging Het
Itgb8 C G 12: 119,131,785 (GRCm39) G620A probably damaging Het
Itih5 T A 2: 10,191,873 (GRCm39) probably null Het
Lamtor5 A T 3: 107,189,336 (GRCm39) D124V probably damaging Het
Mast4 T C 13: 102,930,511 (GRCm39) E439G probably damaging Het
Meltf T G 16: 31,713,680 (GRCm39) L641R probably damaging Het
Mesd G T 7: 83,541,420 (GRCm39) probably benign Het
Nfia C T 4: 97,953,579 (GRCm39) P439L probably damaging Het
Nptx1 A T 11: 119,435,416 (GRCm39) probably null Het
Or1o3 A T 17: 37,573,905 (GRCm39) C217S probably benign Het
Or2j6 T A 7: 139,980,061 (GRCm39) R299S probably benign Het
Or5t7 A G 2: 86,507,633 (GRCm39) F15L probably benign Het
Or7g29 G A 9: 19,286,761 (GRCm39) Q139* probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pik3r5 C A 11: 68,383,769 (GRCm39) S529R probably benign Het
Plxna2 T C 1: 194,326,590 (GRCm39) S175P possibly damaging Het
Pom121l12 T A 11: 14,549,551 (GRCm39) W86R probably benign Het
Ppid C T 3: 79,498,740 (GRCm39) probably benign Het
Pramel7 T A 2: 87,322,509 (GRCm39) D85V probably damaging Het
Prune2 C T 19: 17,098,732 (GRCm39) T1412I probably damaging Het
Ptprd T C 4: 76,046,913 (GRCm39) Y204C probably damaging Het
Rasgrp1 G A 2: 117,168,835 (GRCm39) R48* probably null Het
Rbks A G 5: 31,805,127 (GRCm39) S246P possibly damaging Het
Rnf113a2 G T 12: 84,464,451 (GRCm39) M114I possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGCCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Scara3 A G 14: 66,169,093 (GRCm39) S175P probably damaging Het
Slc4a4 T A 5: 89,270,262 (GRCm39) L261Q probably damaging Het
Sparcl1 T C 5: 104,233,023 (GRCm39) I593V probably benign Het
Suclg1 C T 6: 73,253,696 (GRCm39) H115Y unknown Het
Syde2 T A 3: 145,694,510 (GRCm39) C253S probably benign Het
Tecrl A T 5: 83,427,182 (GRCm39) I322N probably damaging Het
Tesmin C T 19: 3,456,965 (GRCm39) A428V probably damaging Het
Thbd T A 2: 148,248,405 (GRCm39) T488S probably benign Het
Tln2 A T 9: 67,170,261 (GRCm39) V876E probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc13b T A 4: 43,172,910 (GRCm39) I1246K unknown Het
Usp47 T A 7: 111,715,116 (GRCm39) Het
Vmn1r192 C T 13: 22,371,944 (GRCm39) R92Q probably damaging Het
Vmn2r111 T C 17: 22,767,695 (GRCm39) T601A probably damaging Het
Vmn2r51 A G 7: 9,836,428 (GRCm39) F118L probably benign Het
Vmn2r74 T A 7: 85,605,173 (GRCm39) I492L probably benign Het
Vmn2r93 C T 17: 18,546,012 (GRCm39) T628I possibly damaging Het
Vps13d C T 4: 144,882,620 (GRCm39) R991K Het
Wdr5b T C 16: 35,862,306 (GRCm39) S142P probably damaging Het
Zfp428 G T 7: 24,215,069 (GRCm39) probably null 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
R4361:Cdc42ep5 UTSW 7 4,154,779 (GRCm39) missense possibly damaging 0.61
R4696:Cdc42ep5 UTSW 7 4,154,614 (GRCm39) missense possibly damaging 0.60
Z1176:Cdc42ep5 UTSW 7 4,154,725 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGAATAGACAGTCCATGGCAC -3'
(R):5'- ACACCTCATTCCTGAGTCGC -3'

Sequencing Primer
(F):5'- GCACAAACCTCAGCCATTTATGTG -3'
(R):5'- TCATTCCTGAGTCGCCACGG -3'
Posted On 2019-06-26