Incidental Mutation 'R1298:Mapre3'
ID 158208
Institutional Source Beutler Lab
Gene Symbol Mapre3
Ensembl Gene ENSMUSG00000029166
Gene Name microtubule-associated protein, RP/EB family, member 3
Synonyms EB3
MMRRC Submission 039364-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R1298 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30971985-31023450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31022211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 211 (Y211C)
Ref Sequence ENSEMBL: ENSMUSP00000143890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031058] [ENSMUST00000114716] [ENSMUST00000200692] [ENSMUST00000201203] [ENSMUST00000202501]
AlphaFold Q6PER3
Predicted Effect probably damaging
Transcript: ENSMUST00000031058
AA Change: Y226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: Y226C

DomainStartEndE-ValueType
Pfam:CH 14 114 4.1e-10 PFAM
low complexity region 201 214 N/A INTRINSIC
Pfam:EB1 219 257 1.4e-17 PFAM
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114716
SMART Domains Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 172 638 8e-247 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200692
AA Change: Y211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: Y211C

DomainStartEndE-ValueType
Pfam:CH 14 114 2.8e-12 PFAM
low complexity region 186 199 N/A INTRINSIC
Pfam:EB1 204 242 1.6e-21 PFAM
low complexity region 251 265 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201203
SMART Domains Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 217 683 6.9e-246 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202256
Predicted Effect probably benign
Transcript: ENSMUST00000202501
SMART Domains Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

DomainStartEndE-ValueType
Pfam:CH 14 114 6.9e-11 PFAM
Meta Mutation Damage Score 0.7638 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 A G 6: 116,404,225 (GRCm39) W145R probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Bbs4 A T 9: 59,247,096 (GRCm39) W135R probably damaging Het
Cavin4 T C 4: 48,672,593 (GRCm39) V346A probably benign Het
Cdk18 A C 1: 132,050,189 (GRCm39) probably benign Het
Cyp2j11 C T 4: 96,195,497 (GRCm39) probably null Het
Dnah6 A T 6: 73,136,118 (GRCm39) I1007K probably damaging Het
Dnmt1 T C 9: 20,852,752 (GRCm39) E118G probably benign Het
Eef2 C CN 10: 81,014,602 (GRCm39) probably null Het
Eif1ad5 T A 12: 87,946,853 (GRCm39) D98E probably benign Het
Gm14496 T C 2: 181,637,885 (GRCm39) F320L probably benign Het
Gsdmc3 A T 15: 63,732,130 (GRCm39) L299M probably damaging Het
H6pd T C 4: 150,066,971 (GRCm39) I472V probably benign Het
Hao2 G T 3: 98,790,985 (GRCm39) T63K possibly damaging Het
Jag2 C T 12: 112,879,939 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,393,334 (GRCm39) S2966P probably damaging Het
Nsd3 T A 8: 26,169,952 (GRCm39) V696E possibly damaging Het
Obscn A G 11: 58,945,723 (GRCm39) Y4163H possibly damaging Het
Or11h4b A T 14: 50,918,337 (GRCm39) Y251* probably null Het
Or12e8 G A 2: 87,188,414 (GRCm39) A209T probably benign Het
Or6c3 G T 10: 129,308,933 (GRCm39) C124F probably damaging Het
Pde2a A G 7: 101,156,409 (GRCm39) E607G probably benign Het
Pinlyp T A 7: 24,244,391 (GRCm39) D51V probably damaging Het
Rcbtb2 T A 14: 73,399,828 (GRCm39) I87N probably damaging Het
Sfswap A G 5: 129,618,442 (GRCm39) I459V probably benign Het
Slitrk6 T C 14: 110,989,297 (GRCm39) N137D possibly damaging Het
Smg1 A T 7: 117,767,434 (GRCm39) probably benign Het
Sobp T A 10: 42,898,331 (GRCm39) H418L probably damaging Het
Spock1 A C 13: 57,660,563 (GRCm39) D180E probably benign Het
Upk3a G A 15: 84,904,752 (GRCm39) V167I probably benign Het
Vmn1r180 T C 7: 23,652,572 (GRCm39) V245A possibly damaging Het
Zbtb25 T C 12: 76,396,775 (GRCm39) E149G probably benign Het
Zgrf1 T C 3: 127,377,538 (GRCm39) C44R possibly damaging Het
Other mutations in Mapre3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Mapre3 APN 5 31,022,240 (GRCm39) missense probably benign 0.15
IGL01391:Mapre3 APN 5 31,022,241 (GRCm39) missense probably damaging 1.00
IGL02650:Mapre3 APN 5 31,022,053 (GRCm39) missense probably damaging 0.97
capen UTSW 5 31,022,211 (GRCm39) missense probably damaging 1.00
R1272:Mapre3 UTSW 5 31,019,232 (GRCm39) missense probably damaging 1.00
R1447:Mapre3 UTSW 5 31,019,151 (GRCm39) splice site probably benign
R1524:Mapre3 UTSW 5 31,019,261 (GRCm39) missense probably damaging 0.99
R2006:Mapre3 UTSW 5 31,019,168 (GRCm39) missense probably damaging 1.00
R2086:Mapre3 UTSW 5 31,020,546 (GRCm39) critical splice acceptor site probably null
R5864:Mapre3 UTSW 5 31,020,582 (GRCm39) missense probably damaging 1.00
R6630:Mapre3 UTSW 5 31,019,886 (GRCm39) missense probably damaging 0.98
R7348:Mapre3 UTSW 5 31,019,173 (GRCm39) missense probably benign 0.05
R8143:Mapre3 UTSW 5 31,020,719 (GRCm39) missense possibly damaging 0.54
R9182:Mapre3 UTSW 5 31,022,016 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- AGAACATGCAGACCTCTGGACGAC -3'
(R):5'- GGAAGGATCAGGTTCACACTCAGC -3'

Sequencing Primer
(F):5'- TCTGGACGACTCAGCAACG -3'
(R):5'- GGTTCACACTCAGCCTAGAAAC -3'
Posted On 2014-02-18