Incidental Mutation 'R1590:Cdc42ep4'
ID 177818
Institutional Source Beutler Lab
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein 4
Synonyms Borg4, 1500041M20Rik, CEP4
MMRRC Submission 039627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1590 (G1)
Quality Score 186
Status Validated
Chromosome 11
Chromosomal Location 113617676-113642707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113619392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 333 (D333G)
Ref Sequence ENSEMBL: ENSMUSP00000102227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect possibly damaging
Transcript: ENSMUST00000053536
AA Change: D333G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: D333G

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 possibly damaging
Transcript: ENSMUST00000106616
AA Change: D333G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: D333G

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
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 97% (69/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,322,370 (GRCm39) S95P probably damaging Het
Ankmy1 T C 1: 92,816,397 (GRCm39) Y239C probably damaging Het
Atp12a T C 14: 56,617,512 (GRCm39) S601P probably damaging Het
Atp1b3 T C 9: 96,225,402 (GRCm39) T89A probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Brme1 A T 8: 84,893,715 (GRCm39) Q294L probably benign Het
Btnl2 A T 17: 34,580,114 (GRCm39) I216F possibly damaging Het
Cabs1 A T 5: 88,127,490 (GRCm39) H47L probably damaging Het
Ccdc68 T A 18: 70,073,251 (GRCm39) D66E probably benign Het
Ckmt1 G A 2: 121,194,003 (GRCm39) D389N possibly damaging Het
Dact1 G T 12: 71,364,349 (GRCm39) V340F probably benign Het
Dnah2 T C 11: 69,412,024 (GRCm39) T246A probably benign Het
Dnah2 A G 11: 69,313,580 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Efcab14 A G 4: 115,613,746 (GRCm39) probably benign Het
Eprs1 A G 1: 185,133,707 (GRCm39) T795A probably damaging Het
Esp36 T A 17: 38,728,202 (GRCm39) E26D possibly damaging Het
Fpr-rs7 T C 17: 20,333,678 (GRCm39) T271A probably benign Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gimap7 G A 6: 48,700,953 (GRCm39) V180M probably damaging Het
Gtf3c1 T C 7: 125,275,833 (GRCm39) H531R possibly damaging Het
Herc1 T A 9: 66,399,235 (GRCm39) probably benign Het
Hip1r A G 5: 124,140,203 (GRCm39) Y1061C probably benign Het
Ipo11 T C 13: 107,023,225 (GRCm39) Y420C probably damaging Het
Ipo8 T C 6: 148,712,163 (GRCm39) probably null Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klhl1 A T 14: 96,606,072 (GRCm39) M243K probably damaging Het
Lrp2 A G 2: 69,297,107 (GRCm39) probably null Het
Mag T C 7: 30,601,277 (GRCm39) E439G probably damaging Het
Mcm3ap T A 10: 76,332,375 (GRCm39) F1231I probably benign Het
Mcmdc2 C T 1: 9,986,780 (GRCm39) Q204* probably null Het
Mpl A C 4: 118,301,221 (GRCm39) L548R probably damaging Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Myo18b G A 5: 113,023,132 (GRCm39) Q87* probably null Het
Nfat5 A G 8: 108,020,522 (GRCm39) Y22C probably damaging Het
Nnt T A 13: 119,523,197 (GRCm39) I232L possibly damaging Het
Or2a52 A G 6: 43,144,846 (GRCm39) N285D probably damaging Het
Or8g17 T C 9: 38,930,253 (GRCm39) N195D probably benign Het
Or9s13 G A 1: 92,548,467 (GRCm39) V280M possibly damaging Het
Parp2 C T 14: 51,048,001 (GRCm39) P76S probably benign Het
Pick1 C T 15: 79,129,501 (GRCm39) H169Y probably benign Het
Prtg T A 9: 72,750,089 (GRCm39) F164L probably benign Het
Pygb A G 2: 150,659,583 (GRCm39) D422G possibly damaging Het
Samd9l C A 6: 3,375,761 (GRCm39) C500F probably benign Het
Sbno1 A C 5: 124,522,567 (GRCm39) N1083K possibly damaging Het
Septin7 C T 9: 25,188,900 (GRCm39) S77F probably damaging Het
Slc25a44 A G 3: 88,323,314 (GRCm39) V264A possibly damaging Het
Slco1a8 C T 6: 141,926,598 (GRCm39) S576N probably benign Het
Slf2 G T 19: 44,930,512 (GRCm39) E530* probably null Het
Svs5 A G 2: 164,079,578 (GRCm39) S110P possibly damaging Het
Tmbim7 G T 5: 3,715,338 (GRCm39) probably null Het
Tpgs2 T C 18: 25,273,630 (GRCm39) D177G probably damaging Het
Uba1y T A Y: 826,893 (GRCm39) F516L probably damaging Het
Ulk1 A G 5: 110,943,632 (GRCm39) V211A probably damaging Het
Vmn1r237 T A 17: 21,534,301 (GRCm39) I8N probably damaging Het
Vmn2r103 G T 17: 20,014,496 (GRCm39) M429I probably benign Het
Vmn2r112 T C 17: 22,833,989 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,227,349 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging 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
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'- AACGAGGCTCTTAGCTGCACCTAC -3'
(R):5'- ATGCAGAGTCGATCCTGTCCTTCC -3'

Sequencing Primer
(F):5'- CTTAGCTGCACCTACAGAGTAAGG -3'
(R):5'- TGTTCTCAGCATCATGGACAAGG -3'
Posted On 2014-04-24