Incidental Mutation 'R9700:Cdc42ep2'
ID 729540
Institutional Source Beutler Lab
Gene Symbol Cdc42ep2
Ensembl Gene ENSMUSG00000045664
Gene Name CDC42 effector protein 2
Synonyms 1110008C05Rik, D19Bwg1013e, Cep2, Borg1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R9700 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5967584-5974844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5968097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 203 (M203V)
Ref Sequence ENSEMBL: ENSMUSP00000059883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055458]
AlphaFold Q8JZX9
Predicted Effect probably damaging
Transcript: ENSMUST00000055458
AA Change: M203V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059883
Gene: ENSMUSG00000045664
AA Change: M203V

DomainStartEndE-ValueType
PBD 30 66 2.93e-6 SMART
Pfam:BORG_CEP 103 206 1.3e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,311,442 (GRCm39) S1233F probably benign Het
Aldh1a2 G T 9: 71,123,228 (GRCm39) E34* probably null Het
Arhgap39 T C 15: 76,611,617 (GRCm39) T856A probably damaging Het
Arpin A G 7: 79,578,015 (GRCm39) V138A probably damaging Het
Art3 T G 5: 92,562,120 (GRCm39) S373A unknown Het
AU018091 A T 7: 3,208,165 (GRCm39) I514N probably benign Het
BC034090 C T 1: 155,101,982 (GRCm39) R94H probably damaging Het
C2cd6 T G 1: 59,117,089 (GRCm39) M135L probably benign Het
Cftr T C 6: 18,268,359 (GRCm39) Y803H probably damaging Het
Dcaf1 C T 9: 106,735,524 (GRCm39) T824I probably benign Het
Ddr1 A T 17: 35,993,288 (GRCm39) D906E probably damaging Het
Dhx8 G A 11: 101,624,015 (GRCm39) probably null Het
Dpysl5 C T 5: 30,904,417 (GRCm39) Q88* probably null Het
Ercc6l2 A G 13: 63,967,525 (GRCm39) T42A probably benign Het
Faf1 A G 4: 109,748,179 (GRCm39) K495E possibly damaging Het
Hr T C 14: 70,804,616 (GRCm39) V928A probably benign Het
Ints14 C T 9: 64,880,007 (GRCm39) R174* probably null Het
Jam3 T C 9: 27,010,183 (GRCm39) Y267C probably damaging Het
Lpin3 A T 2: 160,740,565 (GRCm39) N370I probably benign Het
Mad2l1 C A 6: 66,512,955 (GRCm39) N29K probably damaging Het
Myt1 A G 2: 181,452,177 (GRCm39) K838R probably damaging Het
Ninj2 T C 6: 120,174,873 (GRCm39) S15P probably benign Het
Or14a256 A T 7: 86,265,618 (GRCm39) N78K probably benign Het
Or1j14 T A 2: 36,418,313 (GRCm39) D296E probably benign Het
Or6b9 A G 7: 106,555,630 (GRCm39) V171A probably benign Het
Or9a2 T A 6: 41,749,076 (GRCm39) K52N probably benign Het
Osgin2 A G 4: 16,006,455 (GRCm39) S80P probably damaging Het
Pcdha5 A G 18: 37,094,447 (GRCm39) N319D probably benign Het
Phkb A G 8: 86,567,696 (GRCm39) K14E probably benign Het
Pip5k1b T C 19: 24,281,460 (GRCm39) Y518C probably benign Het
Polh A T 17: 46,510,414 (GRCm39) M14K probably damaging Het
Prtg A G 9: 72,762,313 (GRCm39) D480G probably benign Het
Ptprk T C 10: 28,456,495 (GRCm39) V1099A probably damaging Het
Pum2 T C 12: 8,779,044 (GRCm39) F539L probably damaging Het
Rac3 A T 11: 120,613,399 (GRCm39) T58S probably damaging Het
Setd1a A T 7: 127,385,752 (GRCm39) I820F possibly damaging Het
Six2 A G 17: 85,994,867 (GRCm39) F172L probably damaging Het
Spic T A 10: 88,515,757 (GRCm39) I22F probably benign Het
Tex30 T C 1: 44,130,374 (GRCm39) probably null Het
Tgfbi T C 13: 56,778,411 (GRCm39) I394T probably benign Het
Tnc A G 4: 63,933,186 (GRCm39) F693L probably damaging Het
Ubr4 T A 4: 139,119,388 (GRCm39) V189E probably damaging Het
Vegfa G A 17: 46,342,713 (GRCm39) P35L probably damaging Het
Zan T C 5: 137,454,836 (GRCm39) H1400R unknown Het
Zfp36l2 A G 17: 84,494,184 (GRCm39) I151T possibly damaging Het
Zfp809 T C 9: 22,154,470 (GRCm39) C396R unknown Het
Zfp93 G A 7: 23,974,894 (GRCm39) G293D probably damaging Het
Other mutations in Cdc42ep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Cdc42ep2 UTSW 19 5,968,636 (GRCm39) missense probably benign 0.32
R0385:Cdc42ep2 UTSW 19 5,968,553 (GRCm39) missense probably benign 0.00
R5215:Cdc42ep2 UTSW 19 5,968,238 (GRCm39) missense probably benign 0.16
R7974:Cdc42ep2 UTSW 19 5,968,523 (GRCm39) missense probably damaging 0.99
R8552:Cdc42ep2 UTSW 19 5,968,060 (GRCm39) makesense probably null
R9630:Cdc42ep2 UTSW 19 5,968,363 (GRCm39) missense
Z1176:Cdc42ep2 UTSW 19 5,968,520 (GRCm39) missense probably benign 0.00
Z1177:Cdc42ep2 UTSW 19 5,968,673 (GRCm39) missense probably damaging 1.00
Z1177:Cdc42ep2 UTSW 19 5,968,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTCTGTCCATTAGGAGAAGGG -3'
(R):5'- GCACCTTGAATCTCCACAGC -3'

Sequencing Primer
(F):5'- GAAAACAAAGGCTCAAAATGGCAGTC -3'
(R):5'- GAATCTCCACAGCCTTCTCCACAG -3'
Posted On 2022-10-06