Incidental Mutation 'R0621:Cdc42ep4'
ID 58687
Institutional Source Beutler Lab
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein 4
Synonyms Borg4, 1500041M20Rik, CEP4
MMRRC Submission 038810-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0621 (G1)
Quality Score 119
Status Not validated
Chromosome 11
Chromosomal Location 113617676-113642707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113619522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 290 (R290C)
Ref Sequence ENSEMBL: ENSMUSP00000102227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect probably damaging
Transcript: ENSMUST00000053536
AA Change: R290C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: R290C

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1e-13 PFAM
Pfam:BORG_CEP 110 224 1e-35 PFAM
low complexity region 280 308 N/A INTRINSIC
low complexity region 340 346 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106616
AA Change: R290C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: R290C

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 2.6e-14 PFAM
Pfam:BORG_CEP 110 219 1.6e-24 PFAM
low complexity region 280 308 N/A INTRINSIC
low complexity region 340 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131488
SMART Domains Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1.1e-13 PFAM
Pfam:BORG_CEP 110 194 7.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153453
SMART Domains Protein: ENSMUSP00000120316
Gene: ENSMUSG00000041598

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1.6e-14 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired glutamate clearance and motor learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,399,898 (GRCm39) D33G probably damaging Het
Adgre1 T A 17: 57,748,359 (GRCm39) S520T probably damaging Het
Afg2a C T 3: 37,486,178 (GRCm39) T300I probably benign Het
Ankrd40 A G 11: 94,230,433 (GRCm39) probably null Het
Aph1b A T 9: 66,686,616 (GRCm39) I177K possibly damaging Het
Armc3 A T 2: 19,300,204 (GRCm39) N579I probably damaging Het
Atxn7l1 T C 12: 33,376,099 (GRCm39) V131A probably benign Het
C130073F10Rik A G 4: 101,747,992 (GRCm39) Y61H probably damaging Het
C1s2 A T 6: 124,608,071 (GRCm39) L214Q probably damaging Het
Caprin2 A T 6: 148,760,176 (GRCm39) S425T possibly damaging Het
Cenpf T C 1: 189,404,825 (GRCm39) T352A probably benign Het
Col6a4 A T 9: 105,943,990 (GRCm39) F1161L probably damaging Het
Dctn2 T C 10: 127,113,809 (GRCm39) probably null Het
Ddx24 T C 12: 103,391,817 (GRCm39) probably benign Het
Dsg1c C A 18: 20,412,752 (GRCm39) A591D possibly damaging Het
Efnb3 T C 11: 69,446,798 (GRCm39) D304G probably damaging Het
Erbb3 T C 10: 128,422,094 (GRCm39) Y50C probably benign Het
Eya3 T G 4: 132,422,113 (GRCm39) D275E probably benign Het
Fam81a G T 9: 70,000,929 (GRCm39) Q272K probably benign Het
Foxf1 T C 8: 121,811,919 (GRCm39) V261A probably damaging Het
Gm9637 G A 14: 19,402,011 (GRCm38) noncoding transcript Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gtf2h2 A T 13: 100,625,433 (GRCm39) L61Q probably damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Hoxb3 A T 11: 96,236,789 (GRCm39) Y289F probably damaging Het
Kctd3 C T 1: 188,713,538 (GRCm39) R399Q probably damaging Het
Kif26b C G 1: 178,743,218 (GRCm39) P1105A probably benign Het
Klhl30 C T 1: 91,285,585 (GRCm39) T369M probably damaging Het
Lipo2 C T 19: 33,708,339 (GRCm39) G225D probably damaging Het
Macf1 T C 4: 123,274,327 (GRCm39) K6350E probably damaging Het
Myh13 A C 11: 67,232,058 (GRCm39) N446T probably damaging Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Or10j2 C T 1: 173,098,242 (GRCm39) P167S possibly damaging Het
Or11h7 G A 14: 50,891,419 (GRCm39) G242R possibly damaging Het
Or4a77 C A 2: 89,487,459 (GRCm39) E109* probably null Het
Pde3a T C 6: 141,195,725 (GRCm39) L137P probably damaging Het
Ppm1f G A 16: 16,733,172 (GRCm39) R233Q probably benign Het
Rtf2 C A 2: 172,308,216 (GRCm39) A205E possibly damaging Het
Sh2d5 T C 4: 137,985,629 (GRCm39) F359S probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc39a11 G A 11: 113,354,905 (GRCm39) P108L probably benign Het
Slc6a5 G A 7: 49,567,113 (GRCm39) probably null Het
Snph C T 2: 151,435,642 (GRCm39) V360M probably damaging Het
Snx29 A G 16: 11,223,651 (GRCm39) probably null Het
Sos1 A G 17: 80,759,408 (GRCm39) probably null Het
St8sia6 T A 2: 13,662,093 (GRCm39) N246I probably damaging Het
Thy1 T A 9: 43,958,030 (GRCm39) F53I probably damaging Het
Tle3 T A 9: 61,317,387 (GRCm39) Y421* probably null Het
Ttc21b C T 2: 66,056,355 (GRCm39) R677Q probably benign Het
Vmn2r107 A T 17: 20,595,252 (GRCm39) I602F probably benign Het
Wdr17 C A 8: 55,096,226 (GRCm39) G1016C probably benign Het
Wdr62 T C 7: 29,953,486 (GRCm39) E182G possibly damaging Het
Zfp597 A G 16: 3,684,228 (GRCm39) I176T probably benign Het
Other mutations in Cdc42ep4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cdc42ep4 APN 11 113,620,328 (GRCm39) missense probably damaging 1.00
IGL01715:Cdc42ep4 APN 11 113,620,268 (GRCm39) missense probably damaging 1.00
IGL01960:Cdc42ep4 APN 11 113,619,830 (GRCm39) missense probably benign
IGL02118:Cdc42ep4 APN 11 113,619,942 (GRCm39) missense probably benign 0.02
IGL02983:Cdc42ep4 APN 11 113,619,995 (GRCm39) missense probably benign 0.13
R1590:Cdc42ep4 UTSW 11 113,619,392 (GRCm39) missense possibly damaging 0.82
R1663:Cdc42ep4 UTSW 11 113,620,277 (GRCm39) missense probably damaging 1.00
R1791:Cdc42ep4 UTSW 11 113,620,163 (GRCm39) missense probably damaging 1.00
R2360:Cdc42ep4 UTSW 11 113,619,528 (GRCm39) missense probably damaging 1.00
R6017:Cdc42ep4 UTSW 11 113,620,192 (GRCm39) missense probably benign 0.03
R6053:Cdc42ep4 UTSW 11 113,619,812 (GRCm39) missense probably damaging 1.00
R6967:Cdc42ep4 UTSW 11 113,619,998 (GRCm39) missense possibly damaging 0.79
R7066:Cdc42ep4 UTSW 11 113,620,044 (GRCm39) missense probably damaging 1.00
R7082:Cdc42ep4 UTSW 11 113,619,944 (GRCm39) missense probably benign
R7556:Cdc42ep4 UTSW 11 113,619,366 (GRCm39) missense probably damaging 1.00
R7982:Cdc42ep4 UTSW 11 113,619,402 (GRCm39) missense possibly damaging 0.55
R8964:Cdc42ep4 UTSW 11 113,620,278 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTTTCGGTCCAGCCTCAAACTC -3'
(R):5'- TCTGCCCATCATGCCCAAAGTC -3'

Sequencing Primer
(F):5'- GCCTCAAACTCGGATCTCATC -3'
(R):5'- TGTTCTCAGCATCATGGACAAGG -3'
Posted On 2013-07-11