Incidental Mutation 'R7982:Cdc42ep4'
ID 651287
Institutional Source Beutler Lab
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein 4
Synonyms Borg4, 1500041M20Rik, CEP4
MMRRC Submission 046023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7982 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 113617676-113642707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113619402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 330 (R330G)
Ref Sequence ENSEMBL: ENSMUSP00000060227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect possibly damaging
Transcript: ENSMUST00000053536
AA Change: R330G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: R330G

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: R330G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: R330G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,150,284 (GRCm39) S625P probably damaging Het
Actl6b A G 5: 137,561,424 (GRCm39) N142S probably benign Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Aox4 A C 1: 58,296,400 (GRCm39) L1032F possibly damaging Het
Atosb T C 4: 43,034,483 (GRCm39) T371A probably damaging Het
Bcl2l15 T C 3: 103,740,158 (GRCm39) M4T probably damaging Het
Cand1 A T 10: 119,052,378 (GRCm39) S242R probably damaging Het
Cant1 A T 11: 118,300,968 (GRCm39) V229D probably benign Het
Ccdc117 A G 11: 5,481,460 (GRCm39) S224P possibly damaging Het
Cep164 T C 9: 45,690,162 (GRCm39) E527G probably benign Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Cln6 A C 9: 62,756,450 (GRCm39) K198T possibly damaging Het
Col4a4 G A 1: 82,549,162 (GRCm39) probably benign Het
Cyp1b1 T C 17: 80,017,919 (GRCm39) Y412C probably damaging Het
Dhx30 A T 9: 109,914,524 (GRCm39) L991Q probably damaging Het
Dst C T 1: 34,221,621 (GRCm39) T2475I possibly damaging Het
Exoc8 A T 8: 125,623,149 (GRCm39) V406E probably damaging Het
Grk6 T A 13: 55,599,519 (GRCm39) C201S probably damaging Het
Helz T C 11: 107,517,456 (GRCm39) V664A possibly damaging Het
Hsd17b11 A G 5: 104,151,090 (GRCm39) C215R possibly damaging Het
Ift25 T C 4: 107,132,480 (GRCm39) V89A probably benign Het
Kbtbd12 T C 6: 88,595,616 (GRCm39) I71M possibly damaging Het
Khdc1a A T 1: 21,421,130 (GRCm39) H105L probably benign Het
Klf6 T A 13: 5,911,822 (GRCm39) L62Q probably damaging Het
Mc1r A G 8: 124,134,879 (GRCm39) R211G probably damaging Het
Nt5m T A 11: 59,739,157 (GRCm39) W68R possibly damaging Het
Nufip1 T C 14: 76,363,679 (GRCm39) V301A probably benign Het
Or10ac1 T A 6: 42,515,225 (GRCm39) T244S probably damaging Het
Or12d14-ps1 T G 17: 37,673,502 (GRCm39) F165V probably damaging Het
Or2b7 T C 13: 21,740,136 (GRCm39) N19D probably benign Het
Or51f5 A T 7: 102,424,310 (GRCm39) D193V probably damaging Het
Or5ac25 A G 16: 59,181,927 (GRCm39) I218T probably benign Het
Ostn T C 16: 27,140,189 (GRCm39) probably null Het
Pcdhb6 C T 18: 37,467,273 (GRCm39) R65* probably null Het
Pds5b T C 5: 150,693,406 (GRCm39) I706T probably damaging Het
Pgm2 T G 5: 64,258,302 (GRCm39) Y96D probably damaging Het
Pkd1l2 G A 8: 117,777,926 (GRCm39) T875I possibly damaging Het
Poc1b A G 10: 99,000,764 (GRCm39) S355G probably benign Het
Ppp6r1 A C 7: 4,646,157 (GRCm39) D181E probably benign Het
Pstpip2 G A 18: 77,967,073 (GRCm39) V325M probably benign Het
Rras2 A T 7: 113,658,186 (GRCm39) V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,499,594 (GRCm39) probably benign Het
Stac2 T A 11: 97,933,379 (GRCm39) M188L probably benign Het
Synrg G A 11: 83,910,644 (GRCm39) D859N probably damaging Het
Tarbp1 A T 8: 127,171,040 (GRCm39) S987T probably damaging Het
Tbx20 C A 9: 24,685,220 (GRCm39) probably benign Het
Trim30d G T 7: 104,121,817 (GRCm39) N309K possibly damaging Het
Ttc16 C T 2: 32,665,047 (GRCm39) probably benign Het
Ttc34 T A 4: 154,945,875 (GRCm39) I303N possibly damaging Het
Ubr4 T C 4: 139,155,519 (GRCm39) probably null Het
Uros A T 7: 133,294,278 (GRCm39) S168T unknown Het
Vmn2r6 C T 3: 64,467,241 (GRCm39) G86D probably damaging Het
Ybx2 C T 11: 69,831,448 (GRCm39) T295I possibly damaging Het
Zbed5 T A 5: 129,929,321 (GRCm39) C146S possibly damaging Het
Zcchc2 G A 1: 105,958,901 (GRCm39) C1124Y probably damaging Het
Zfp626 G A 7: 27,510,175 (GRCm39) probably null 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
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
R8964:Cdc42ep4 UTSW 11 113,620,278 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCACCTACAGAGTAAGGTCAAAG -3'
(R):5'- TCCTCTAGGGAGACAGGAAAGC -3'

Sequencing Primer
(F):5'- CTACAGAGTAAGGTCAAAGGTCATAG -3'
(R):5'- ACCAGGCCTCTATGCTGC -3'
Posted On 2020-09-15