Incidental Mutation 'R7066:Cdc42ep4'
ID 548586
Institutional Source Beutler Lab
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein 4
Synonyms Borg4, 1500041M20Rik, CEP4
MMRRC Submission 045162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7066 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 113617676-113642707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113620044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 116 (S116P)
Ref Sequence ENSEMBL: ENSMUSP00000114599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect probably damaging
Transcript: ENSMUST00000053536
AA Change: S116P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: S116P

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: S116P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: S116P

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 damaging
Transcript: ENSMUST00000131488
AA Change: S116P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: S116P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,904,514 (GRCm39) V175A probably damaging Het
Adamts5 A T 16: 85,659,652 (GRCm39) V880E probably damaging Het
Adgrf1 T A 17: 43,621,151 (GRCm39) F463I probably benign Het
Ano1 T A 7: 144,190,823 (GRCm39) E249D probably benign Het
Aoc1 A G 6: 48,885,553 (GRCm39) D686G probably damaging Het
Cacna1d A T 14: 30,074,935 (GRCm39) probably benign Het
Ces2a T C 8: 105,466,880 (GRCm39) V463A probably damaging Het
Depdc5 A G 5: 33,059,192 (GRCm39) D297G probably benign Het
Fsip2 T A 2: 82,821,235 (GRCm39) V5656E possibly damaging Het
Gbp5 A G 3: 142,213,490 (GRCm39) T469A probably benign Het
Gm21663 C G 5: 26,146,259 (GRCm39) probably null Het
Iqch A G 9: 63,432,027 (GRCm39) V456A probably benign Het
Lpcat1 A C 13: 73,659,500 (GRCm39) I373L probably benign Het
Morc2b C T 17: 33,355,610 (GRCm39) V721I probably benign Het
Mrgprb1 C T 7: 48,097,424 (GRCm39) V163M probably benign Het
Mtfr2 A G 10: 20,229,972 (GRCm39) I142V possibly damaging Het
Muc16 A T 9: 18,569,317 (GRCm39) S1067R unknown Het
Myh14 T C 7: 44,280,179 (GRCm39) S892G possibly damaging Het
Mylk2 C T 2: 152,753,588 (GRCm39) probably null Het
Mzf1 A T 7: 12,777,490 (GRCm39) V638E possibly damaging Het
Ncoa1 C T 12: 4,372,934 (GRCm39) V156I possibly damaging Het
Nf1 A G 11: 79,447,546 (GRCm39) E2450G probably damaging Het
Or14j3 T A 17: 37,901,034 (GRCm39) D70V probably damaging Het
Or1e29 A G 11: 73,668,018 (GRCm39) I45T probably damaging Het
Or4a72 T C 2: 89,406,047 (GRCm39) T8A probably damaging Het
Or4f60 G A 2: 111,902,541 (GRCm39) P129L probably damaging Het
Or5t7 T A 2: 86,507,570 (GRCm39) T36S possibly damaging Het
Or6c88 T C 10: 129,407,373 (GRCm39) L283S probably damaging Het
Or8g54 A G 9: 39,707,420 (GRCm39) I250V probably benign Het
Or8k17 T C 2: 86,067,002 (GRCm39) D52G probably damaging Het
P4htm T G 9: 108,474,162 (GRCm39) K125N probably damaging Het
Patj A G 4: 98,301,434 (GRCm39) T240A probably benign Het
Pcolce2 T C 9: 95,563,674 (GRCm39) V220A probably benign Het
Pcyox1 A T 6: 86,371,478 (GRCm39) I136N probably damaging Het
Pde4b A G 4: 102,460,003 (GRCm39) S395G probably benign Het
Peg3 C A 7: 6,711,856 (GRCm39) R1122L probably damaging Het
Plekhm1 A G 11: 103,261,814 (GRCm39) V922A possibly damaging Het
Rad51c T C 11: 87,293,502 (GRCm39) N118S possibly damaging Het
Rb1cc1 T A 1: 6,320,229 (GRCm39) V1216D possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rlf T C 4: 121,005,984 (GRCm39) M999V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Sema5b A C 16: 35,471,682 (GRCm39) D425A probably benign Het
Siglecg A G 7: 43,061,166 (GRCm39) E413G probably benign Het
Tcaf1 A T 6: 42,656,111 (GRCm39) N288K probably damaging Het
Tdp1 A G 12: 99,860,991 (GRCm39) D210G probably benign Het
Umps A T 16: 33,782,103 (GRCm39) L273* probably null Het
Vcan A T 13: 89,853,805 (GRCm39) V385D probably damaging Het
Wdr59 T C 8: 112,192,477 (GRCm39) T676A probably benign Het
Zdbf2 A G 1: 63,346,718 (GRCm39) H1699R probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
R0621:Cdc42ep4 UTSW 11 113,619,522 (GRCm39) missense probably damaging 1.00
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
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'- ATGGGCAGATCCATCAGGTC -3'
(R):5'- CGTCTTTCCTCACTAGCAAGG -3'

Sequencing Primer
(F):5'- CCAAAGGCCTGCTCGTCAAG -3'
(R):5'- TTTCCTCACTAGCAAGGCCAGG -3'
Posted On 2019-05-13