Incidental Mutation 'PIT4378001:Cdc42ep1'
ID 555026
Institutional Source Beutler Lab
Gene Symbol Cdc42ep1
Ensembl Gene ENSMUSG00000049521
Gene Name CDC42 effector protein (Rho GTPase binding) 1
Synonyms MSE55, 1810058K22Rik, Borg5, CEP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock # PIT4378001 (G1)
Quality Score 197.009
Status Not validated
Chromosome 15
Chromosomal Location 78842624-78850897 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78849680 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 327 (D327N)
Ref Sequence ENSEMBL: ENSMUSP00000060930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044584] [ENSMUST00000059619]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044584
SMART Domains Protein: ENSMUSP00000036598
Gene: ENSMUSG00000043501

DomainStartEndE-ValueType
GLECT 5 130 1.56e-47 SMART
Gal-bind_lectin 8 129 1.44e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000059619
AA Change: D327N

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060930
Gene: ENSMUSG00000049521
AA Change: D327N

DomainStartEndE-ValueType
PBD 38 72 2.55e-6 SMART
low complexity region 89 98 N/A INTRINSIC
Pfam:BORG_CEP 115 232 2.5e-21 PFAM
low complexity region 234 266 N/A INTRINSIC
low complexity region 272 291 N/A INTRINSIC
low complexity region 330 347 N/A INTRINSIC
low complexity region 377 391 N/A INTRINSIC
low complexity region 395 406 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.0%
  • 20x: 72.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,015,207 L14P probably damaging Het
2310033P09Rik T C 11: 59,208,976 V100A probably benign Het
9530053A07Rik G A 7: 28,154,464 D1618N possibly damaging Het
Adamtsl1 T C 4: 86,199,364 V188A possibly damaging Het
Aldh6a1 T C 12: 84,441,872 D80G probably benign Het
Ankrd50 T C 3: 38,455,263 Q62R possibly damaging Het
Arrdc1 T A 2: 24,926,633 Y177F probably damaging Het
Asap1 C T 15: 64,135,848 R384Q probably damaging Het
Atxn2l A T 7: 126,497,271 V433D probably benign Het
Bbs1 G A 19: 4,891,675 A529V probably benign Het
Bbx G A 16: 50,280,473 R20* probably null Het
Bend5 T C 4: 111,431,107 V106A probably benign Het
C1galt1 A G 6: 7,863,944 N8S probably benign Het
Cep162 A G 9: 87,217,145 S767P probably benign Het
Csmd1 T C 8: 15,895,728 T3562A probably damaging Het
Dnah7a A G 1: 53,531,203 S1815P probably damaging Het
Ei24 A T 9: 36,786,024 L136Q probably damaging Het
Extl2 T G 3: 116,010,690 M1R probably null Het
Fam160a1 A G 3: 85,730,551 L147P probably damaging Het
Fat3 T C 9: 16,376,808 E473G probably benign Het
Fgfr1op T C 17: 8,182,273 S209P probably damaging Het
G6pc3 T A 11: 102,190,001 W26R probably damaging Het
Hc T A 2: 35,031,864 Y610F probably benign Het
Hecw1 T C 13: 14,377,783 D77G probably damaging Het
Hgf T C 5: 16,611,862 V497A probably damaging Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 probably benign Het
Hyou1 A C 9: 44,390,851 D968A probably benign Het
Jmjd1c T A 10: 67,229,913 S1525T probably damaging Het
Kcnc4 G A 3: 107,447,563 T523I probably benign Het
Kcng1 C T 2: 168,262,684 C414Y probably damaging Het
Klhdc10 T C 6: 30,447,412 I204T probably damaging Het
Krt18 A T 15: 102,029,923 T194S probably benign Het
Krt76 A C 15: 101,892,407 N151K probably damaging Het
Krtap31-2 A G 11: 99,936,716 T125A possibly damaging Het
Lama5 A G 2: 180,189,445 V1807A possibly damaging Het
Lats1 T G 10: 7,705,605 V718G probably damaging Het
Mef2b A G 8: 70,164,260 K4E probably damaging Het
Mertk T C 2: 128,782,617 probably null Het
Mroh8 A G 2: 157,228,700 V577A possibly damaging Het
Mtcl1 T G 17: 66,438,279 N381T probably damaging Het
Nfyc T A 4: 120,790,491 probably null Het
Nol4 C A 18: 23,039,876 W56L probably damaging Het
Notch2 A T 3: 98,142,956 D1849V probably damaging Het
Olfr1406 T C 1: 173,183,814 T207A probably benign Het
Olfr1436 A G 19: 12,298,712 M140T probably damaging Het
Olfr284 A G 15: 98,340,272 V239A possibly damaging Het
Olfr287 G A 15: 98,207,571 T271I probably damaging Het
Olfr297 A T 7: 86,527,098 T114S possibly damaging Het
Olfr733 T C 14: 50,298,898 N137S probably benign Het
Olfr846 T A 9: 19,361,175 Y60F probably damaging Het
Oxr1 G A 15: 41,801,582 V138I probably benign Het
Pars2 A G 4: 106,654,293 E424G possibly damaging Het
Peli2 C A 14: 48,168,269 Y50* probably null Het
Plag1 T A 4: 3,905,492 H66L probably benign Het
Psme4 T C 11: 30,821,079 probably benign Het
Robo1 A T 16: 73,004,535 S1016C probably damaging Het
Rrbp1 A G 2: 143,974,540 V723A probably benign Het
Sgip1 C A 4: 102,921,083 D292E unknown Het
Skint4 T A 4: 112,087,035 C23S probably benign Het
Slc22a28 A C 19: 8,071,914 S323R probably damaging Het
Slc41a3 A G 6: 90,640,909 T306A probably benign Het
Spata13 A G 14: 60,749,996 M868V probably damaging Het
Spata6 T G 4: 111,746,181 I31S possibly damaging Het
Sycp3 A T 10: 88,466,504 K119* probably null Het
Tlk2 T A 11: 105,281,220 S739T unknown Het
Trim10 T C 17: 36,877,128 V412A probably damaging Het
Ttc3 T A 16: 94,410,906 F377I probably benign Het
Uck1 T A 2: 32,256,034 H283L probably damaging Het
Unc5a T C 13: 54,995,868 Y122H possibly damaging Het
Uncx C T 5: 139,544,622 R152* probably null Het
Usp44 A G 10: 93,845,655 probably benign Het
Vamp2 A C 11: 69,089,738 D44A probably benign Het
Vmn2r83 A G 10: 79,469,015 T20A probably benign Het
Vmn2r84 A T 10: 130,385,915 I812N probably damaging Het
Vrtn T G 12: 84,649,169 L231R probably damaging Het
Wdr75 A G 1: 45,820,173 T677A probably damaging Het
Xylt1 C A 7: 117,548,865 S221R possibly damaging Het
Zscan22 A G 7: 12,904,056 E125G possibly damaging Het
Zxdc A T 6: 90,373,716 H383L probably damaging Het
Other mutations in Cdc42ep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2111:Cdc42ep1 UTSW 15 78847492 missense probably damaging 1.00
R3689:Cdc42ep1 UTSW 15 78847429 missense probably benign 0.03
R3690:Cdc42ep1 UTSW 15 78847429 missense probably benign 0.03
R4456:Cdc42ep1 UTSW 15 78849891 missense possibly damaging 0.72
R5714:Cdc42ep1 UTSW 15 78849777 missense possibly damaging 0.93
R6374:Cdc42ep1 UTSW 15 78847449 missense probably damaging 1.00
R7944:Cdc42ep1 UTSW 15 78847773 missense possibly damaging 0.94
R7945:Cdc42ep1 UTSW 15 78847773 missense possibly damaging 0.94
R7995:Cdc42ep1 UTSW 15 78847496 missense probably damaging 1.00
R8010:Cdc42ep1 UTSW 15 78847799 missense possibly damaging 0.62
R9293:Cdc42ep1 UTSW 15 78849825 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCACTCTAGATGCTGTGACAAG -3'
(R):5'- ACTCAAAGGCATTGACCTGC -3'

Sequencing Primer
(F):5'- AGATGCTGTGACAAGCCTTC -3'
(R):5'- ATTGACCTGCACCGAGGTGG -3'
Posted On 2019-06-07