Incidental Mutation 'R6967:Cdc42ep4'
ID 542070
Institutional Source Beutler Lab
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein 4
Synonyms Borg4, 1500041M20Rik, CEP4
MMRRC Submission 045077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6967 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 113617676-113642707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113619998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 131 (S131N)
Ref Sequence ENSEMBL: ENSMUSP00000114599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect possibly damaging
Transcript: ENSMUST00000053536
AA Change: S131N

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: S131N

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: S131N

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: S131N

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 possibly damaging
Transcript: ENSMUST00000131488
AA Change: S131N

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: S131N

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: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik A G 7: 103,708,212 (GRCm39) I199T probably benign Het
Adam23 T G 1: 63,602,495 (GRCm39) probably null Het
Adamts8 C T 9: 30,865,787 (GRCm39) T445I probably benign Het
Ahi1 T C 10: 20,864,524 (GRCm39) V752A probably damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Bicra T C 7: 15,706,130 (GRCm39) E1437G probably damaging Het
Ces1f G A 8: 93,994,625 (GRCm39) P262L probably benign Het
Chrna2 A T 14: 66,388,398 (GRCm39) probably null Het
Cspg4 G A 9: 56,797,420 (GRCm39) V1295M possibly damaging Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dach1 A T 14: 98,140,633 (GRCm39) S456R probably damaging Het
Dhx37 T C 5: 125,499,231 (GRCm39) D659G probably benign Het
Dscaml1 T C 9: 45,585,821 (GRCm39) V586A probably damaging Het
Efhb G T 17: 53,770,196 (GRCm39) L38I probably benign Het
Fbxw10 T C 11: 62,738,429 (GRCm39) S108P possibly damaging Het
Fmnl2 A G 2: 52,987,344 (GRCm39) N313S possibly damaging Het
Gga3 T C 11: 115,482,102 (GRCm39) E172G probably damaging Het
Ggta1 A G 2: 35,292,734 (GRCm39) V191A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hcn4 C T 9: 58,731,228 (GRCm39) T145M unknown Het
Kirrel3 T C 9: 34,946,202 (GRCm39) S654P probably damaging Het
Klrb1 A T 6: 128,687,486 (GRCm39) probably null Het
Krt15 T A 11: 100,025,339 (GRCm39) D166V probably damaging Het
Lipk T A 19: 34,017,794 (GRCm39) Y277* probably null Het
Ly6g A C 15: 75,030,398 (GRCm39) N49T possibly damaging Het
Ms4a4c A T 19: 11,392,191 (GRCm39) Q4L probably benign Het
Nfya A C 17: 48,699,932 (GRCm39) probably benign Het
Nub1 T C 5: 24,913,709 (GRCm39) V530A probably benign Het
Ocln A T 13: 100,675,796 (GRCm39) Y232* probably null Het
Or10ag59 A G 2: 87,405,857 (GRCm39) N143S possibly damaging Het
Or2r2 A G 6: 42,463,947 (GRCm39) F60S probably damaging Het
Or4d2b C T 11: 87,780,324 (GRCm39) V133I probably benign Het
Or5b114-ps1 A G 19: 13,352,815 (GRCm39) H163R unknown Het
Otogl G A 10: 107,649,911 (GRCm39) A1148V probably benign Het
Paqr5 C T 9: 61,880,113 (GRCm39) W46* probably null Het
Psd2 C A 18: 36,113,385 (GRCm39) L286M probably damaging Het
Ptpn4 A T 1: 119,612,311 (GRCm39) Y27* probably null Het
Ripk2 A G 4: 16,158,275 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sbk2 C T 7: 4,967,146 (GRCm39) probably null Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sspo A C 6: 48,466,728 (GRCm39) D4072A probably benign Het
St6galnac3 T C 3: 152,912,345 (GRCm39) Y214C probably damaging Het
Sugp1 T A 8: 70,513,202 (GRCm39) D256E possibly damaging Het
Sugt1 A G 14: 79,834,847 (GRCm39) Y90C probably benign Het
Taok2 A G 7: 126,469,564 (GRCm39) I1088T probably damaging Het
Tasor2 A T 13: 3,624,819 (GRCm39) D1710E probably benign Het
Tmc7 T A 7: 118,146,901 (GRCm39) T459S probably benign Het
Tmed11 T C 5: 108,926,780 (GRCm39) Y164C probably damaging Het
Tmem275 A G 4: 115,755,491 (GRCm39) T97A unknown Het
Tmem63b T C 17: 45,977,558 (GRCm39) E356G probably benign Het
Ttc13 T C 8: 125,415,357 (GRCm39) I261V probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn1r73 A T 7: 11,490,544 (GRCm39) K121* probably null Het
Zc3h12d A T 10: 7,715,644 (GRCm39) S16C probably damaging Het
Zfp292 A T 4: 34,807,812 (GRCm39) M1744K 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
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
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'- ATCGACTCTGCATGCTTCAGC -3'
(R):5'- ACGAGTCCCTGGATGAACAG -3'

Sequencing Primer
(F):5'- TGCATGCTTCAGCCCGTAG -3'
(R):5'- ATGAACAGGCCTCGGCTTC -3'
Posted On 2018-11-28