Incidental Mutation 'R4696:Cdc42ep5'
ID 355691
Institutional Source Beutler Lab
Gene Symbol Cdc42ep5
Ensembl Gene ENSMUSG00000063838
Gene Name CDC42 effector protein 5
Synonyms 2010007O02Rik, 1700027J19Rik, Borg3, CEP5
MMRRC Submission 041946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R4696 (G1)
Quality Score 148
Status Validated
Chromosome 7
Chromosomal Location 4154259-4167830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4154614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 58 (P58L)
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: P58L

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092508
Gene: ENSMUSG00000063838
AA Change: P58L

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
Predicted Effect unknown
Transcript: ENSMUST00000143825
AA Change: P58L
SMART Domains Protein: ENSMUSP00000117257
Gene: ENSMUSG00000063838
AA Change: P58L

DomainStartEndE-ValueType
PBD 23 57 5.86e-6 SMART
Meta Mutation Damage Score 0.0977 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,241,817 (GRCm39) S1405G probably benign Het
Acaca T C 11: 84,171,261 (GRCm39) V1165A possibly damaging Het
Acin1 C A 14: 54,880,474 (GRCm39) probably benign Het
Akr1b8 G A 6: 34,340,312 (GRCm39) V159I probably benign Het
Alms1 T C 6: 85,597,504 (GRCm39) Y777H probably damaging Het
Cblc C A 7: 19,530,407 (GRCm39) G101C probably damaging Het
Cic A G 7: 24,987,908 (GRCm39) N1532S probably benign Het
Cipc T A 12: 86,999,714 (GRCm39) probably benign Het
Clca4b T C 3: 144,617,146 (GRCm39) I835V probably benign Het
Cntrob C T 11: 69,211,714 (GRCm39) G170D probably damaging Het
Col14a1 A G 15: 55,235,998 (GRCm39) Q304R unknown Het
Csmd3 T C 15: 47,777,364 (GRCm39) T1181A probably benign Het
Dchs1 A G 7: 105,413,834 (GRCm39) F994L probably damaging Het
Ddx42 C A 11: 106,138,529 (GRCm39) A776D probably benign Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dmpk A T 7: 18,822,139 (GRCm39) N366Y probably damaging Het
Dmrt1 A G 19: 25,580,674 (GRCm39) Y362C possibly damaging Het
Dock10 C T 1: 80,493,330 (GRCm39) G1880D possibly damaging Het
Dzip1l A G 9: 99,545,664 (GRCm39) R638G possibly damaging Het
Dzip3 T A 16: 48,746,332 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Eno4 T C 19: 58,934,068 (GRCm39) S90P probably damaging Het
Epn2 C G 11: 61,426,129 (GRCm39) A283P probably damaging Het
Eya3 T A 4: 132,397,543 (GRCm39) Y67* probably null Het
Fat2 T C 11: 55,175,841 (GRCm39) N1624S probably benign Het
Fez1 T A 9: 36,781,766 (GRCm39) probably null Het
Fgfr1 T C 8: 26,053,504 (GRCm39) S260P probably damaging Het
Glb1 A G 9: 114,293,220 (GRCm39) S532G probably benign Het
Gm15455 A T 1: 33,876,874 (GRCm39) noncoding transcript Het
Grid2ip A G 5: 143,377,131 (GRCm39) probably benign Het
Guca2b C A 4: 119,513,996 (GRCm39) G129V probably damaging Het
Hes3 T C 4: 152,372,124 (GRCm39) E65G probably damaging Het
Itgbl1 T C 14: 124,204,120 (GRCm39) C404R probably damaging Het
Kansl1 C T 11: 104,247,593 (GRCm39) V586I possibly damaging Het
Krt18 A G 15: 101,940,293 (GRCm39) D390G probably benign Het
Laptm5 T C 4: 130,660,982 (GRCm39) probably benign Het
Lgals3bp C T 11: 118,288,977 (GRCm39) E116K probably benign Het
Lrrc39 C T 3: 116,363,769 (GRCm39) S114F probably damaging Het
Mfap3 T C 11: 57,419,117 (GRCm39) probably null Het
Nphp3 A G 9: 103,899,931 (GRCm39) H481R probably benign Het
Ntm T C 9: 29,090,501 (GRCm39) T73A possibly damaging Het
Or5m13b T A 2: 85,749,215 (GRCm39) probably null Het
Or8g4 T A 9: 39,662,024 (GRCm39) M114K probably damaging Het
Pbk G A 14: 66,049,386 (GRCm39) C21Y probably benign Het
Pglyrp1 A G 7: 18,618,871 (GRCm39) E74G probably benign Het
R3hdm1 G T 1: 128,164,503 (GRCm39) probably benign Het
Rap1gds1 T C 3: 138,633,375 (GRCm39) T599A probably damaging Het
Rigi A G 4: 40,203,798 (GRCm39) probably benign Het
Rims1 A T 1: 22,358,836 (GRCm39) M1273K probably damaging Het
Sbf1 G A 15: 89,187,315 (GRCm39) R721* probably null Het
Slc17a1 T C 13: 24,064,700 (GRCm39) I388T probably damaging Het
Sprn A C 7: 139,733,469 (GRCm39) probably benign Het
Tango6 T C 8: 107,426,863 (GRCm39) V459A possibly damaging Het
Tert C T 13: 73,775,939 (GRCm39) T230I probably benign Het
Thada T C 17: 84,733,614 (GRCm39) D1011G possibly damaging Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trip11 A T 12: 101,851,549 (GRCm39) N838K possibly damaging Het
Ttn A G 2: 76,597,997 (GRCm39) W19639R probably damaging Het
Ubr4 T A 4: 139,135,983 (GRCm39) S924T probably benign Het
Upb1 A G 10: 75,250,861 (GRCm39) E110G probably benign Het
Vegfa C T 17: 46,339,272 (GRCm39) probably null Het
Vmn1r231 T C 17: 21,110,901 (GRCm39) K5E possibly damaging Het
Vmn2r16 A T 5: 109,487,168 (GRCm39) I130F probably benign Het
Wscd2 T A 5: 113,689,240 (GRCm39) V82E probably benign Het
Zfp462 A G 4: 55,008,612 (GRCm39) T193A probably benign Het
Zfp467 A G 6: 48,416,291 (GRCm39) probably benign Het
Zfp619 T C 7: 39,186,412 (GRCm39) L814P probably benign 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
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'- TCAGCATTTGAGCAGCAGC -3'
(R):5'- GATGCCGGTAATGAAGCAGC -3'

Sequencing Primer
(F):5'- TGCACTCTAGGGTGGGCATC -3'
(R):5'- TAATGAAGCAGCTGGGCCCTG -3'
Posted On 2015-10-21