Incidental Mutation 'R9150:Cdc42ep3'
ID 694996
Institutional Source Beutler Lab
Gene Symbol Cdc42ep3
Ensembl Gene ENSMUSG00000036533
Gene Name CDC42 effector protein 3
Synonyms UB1, Cep3, Borg2, 3200001F04Rik
MMRRC Submission 068938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9150 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 79641156-79662520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79642299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 207 (H207R)
Ref Sequence ENSEMBL: ENSMUSP00000067217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068958]
AlphaFold Q9CQC5
Predicted Effect probably benign
Transcript: ENSMUST00000068958
AA Change: H207R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000067217
Gene: ENSMUSG00000036533
AA Change: H207R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
PBD 31 67 2.98e-7 SMART
Pfam:BORG_CEP 102 253 4.8e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b CTCCGGTGAGTGCCTCATCC CTCC 5: 137,553,354 (GRCm39) probably null Het
Ampd1 A T 3: 102,988,359 (GRCm39) I101F possibly damaging Het
Arhgap11a A G 2: 113,673,614 (GRCm39) V92A possibly damaging Het
Arih1 C A 9: 59,344,069 (GRCm39) L189F possibly damaging Het
B4galt3 A G 1: 171,103,899 (GRCm39) R379G probably benign Het
Capn12 A G 7: 28,590,378 (GRCm39) N642D probably benign Het
Dcps A T 9: 35,035,938 (GRCm39) L316H probably damaging Het
Dmgdh A G 13: 93,825,103 (GRCm39) Y142C probably damaging Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml6 A T 11: 29,755,791 (GRCm39) V821E probably benign Het
Fam181a A T 12: 103,282,139 (GRCm39) N15Y probably damaging Het
Gm26657 G T 4: 56,740,835 (GRCm39) E7* probably null Het
Gm8267 A T 14: 44,955,362 (GRCm39) S220T probably benign Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Gpr158 G A 2: 21,831,251 (GRCm39) G784R probably benign Het
Grm2 A G 9: 106,524,657 (GRCm39) L215P Het
Gtpbp1 A G 15: 79,592,165 (GRCm39) D252G probably damaging Het
Heatr5b A G 17: 79,103,448 (GRCm39) V1135A probably benign Het
Irag1 T C 7: 110,498,205 (GRCm39) T397A probably benign Het
Lrrc8e A C 8: 4,286,030 (GRCm39) K752Q probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapre2 A G 18: 23,991,208 (GRCm39) T201A probably benign Het
Mcm9 A T 10: 53,502,110 (GRCm39) N85K Het
Mdga1 T C 17: 30,057,420 (GRCm39) T92A probably damaging Het
Nemf A C 12: 69,387,820 (GRCm39) D421E probably benign Het
Oga A T 19: 45,771,421 (GRCm39) V50E probably benign Het
Or13g1 G C 7: 85,955,942 (GRCm39) F126L probably damaging Het
Or5k14 G T 16: 58,693,005 (GRCm39) C169* probably null Het
Or5m3 A T 2: 85,838,626 (GRCm39) K169* probably null Het
Or8k53 A T 2: 86,177,336 (GRCm39) M258K probably damaging Het
Pcdhga5 A C 18: 37,827,933 (GRCm39) N127T probably damaging Het
Phyhipl A T 10: 70,404,887 (GRCm39) V107E probably damaging Het
Pkd1l1 G A 11: 8,786,256 (GRCm39) R2383C Het
Ppp1r16a G A 15: 76,575,054 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,531 (GRCm39) Y158C probably benign Het
Rnf41 T C 10: 128,272,399 (GRCm39) V142A Het
Sgcd C T 11: 46,870,170 (GRCm39) V264I probably damaging Het
Six2 A G 17: 85,992,763 (GRCm39) S247P probably benign Het
Slc17a7 T G 7: 44,820,167 (GRCm39) Y241D probably damaging Het
Slc30a5 T A 13: 100,939,915 (GRCm39) K724* probably null Het
Slitrk1 T A 14: 109,149,101 (GRCm39) I537F possibly damaging Het
Sp140l2 T A 1: 85,091,359 (GRCm39) Q33L probably damaging Het
Spen C T 4: 141,244,468 (GRCm39) R189Q unknown Het
Srd5a3 T A 5: 76,297,615 (GRCm39) L139Q probably damaging Het
Tgfbrap1 A T 1: 43,114,985 (GRCm39) Y38* probably null Het
Tln2 A T 9: 67,128,778 (GRCm39) M1437K probably damaging Het
Tmem87b T C 2: 128,687,401 (GRCm39) I467T probably damaging Het
Tnfrsf21 T A 17: 43,398,691 (GRCm39) I599N probably damaging Het
Trmt112 T A 19: 6,887,620 (GRCm39) L23Q probably damaging Het
Tsc22d1 T A 14: 76,654,056 (GRCm39) N178K probably damaging Het
Ttc23 A G 7: 67,375,850 (GRCm39) Y476C probably damaging Het
Twf1 A T 15: 94,484,274 (GRCm39) W83R probably damaging Het
Vmn2r14 T A 5: 109,367,783 (GRCm39) H403L probably damaging Het
Wiz A T 17: 32,586,809 (GRCm39) I167N probably benign Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign Het
Zfp618 C T 4: 63,039,603 (GRCm39) Q401* probably null Het
Zfp715 T A 7: 42,948,713 (GRCm39) I416F possibly damaging Het
Other mutations in Cdc42ep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Cdc42ep3 APN 17 79,642,884 (GRCm39) missense possibly damaging 0.80
R1428:Cdc42ep3 UTSW 17 79,642,465 (GRCm39) missense probably benign 0.06
R1531:Cdc42ep3 UTSW 17 79,642,473 (GRCm39) missense probably benign 0.08
R4378:Cdc42ep3 UTSW 17 79,642,408 (GRCm39) missense probably benign 0.00
R4715:Cdc42ep3 UTSW 17 79,642,887 (GRCm39) missense probably benign 0.11
R5132:Cdc42ep3 UTSW 17 79,642,803 (GRCm39) missense probably damaging 1.00
R7057:Cdc42ep3 UTSW 17 79,642,952 (GRCm39) start gained probably benign
Z1177:Cdc42ep3 UTSW 17 79,642,327 (GRCm39) missense probably damaging 0.97
Z1177:Cdc42ep3 UTSW 17 79,642,307 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTCTTTCCATCAGCTGTG -3'
(R):5'- GTGAGCCTGTCATGGAAGAG -3'

Sequencing Primer
(F):5'- AGCTCTTTCCATCAGCTGTGGTTAG -3'
(R):5'- GCCTGTCATGGAAGAGAAAGTTC -3'
Posted On 2022-01-20