Incidental Mutation 'IGL01391:Mapre3'
ID79199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapre3
Ensembl Gene ENSMUSG00000029166
Gene Namemicrotubule-associated protein, RP/EB family, member 3
SynonymsEB3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.772) question?
Stock #IGL01391
Quality Score
Status
Chromosome5
Chromosomal Location30814641-30866106 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30864897 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 236 (I236T)
Ref Sequence ENSEMBL: ENSMUSP00000031058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031058] [ENSMUST00000114716] [ENSMUST00000200692] [ENSMUST00000201203] [ENSMUST00000202501]
Predicted Effect probably damaging
Transcript: ENSMUST00000031058
AA Change: I236T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: I236T

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 possibly damaging
Transcript: ENSMUST00000200692
AA Change: I221T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: I221T

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: ENSMUST00000202256
Predicted Effect probably benign
Transcript: ENSMUST00000202501
SMART Domains Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

DomainStartEndE-ValueType
Pfam:CH 14 114 6.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202951
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Mapre3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Mapre3 APN 5 30864896 missense probably benign 0.15
IGL02650:Mapre3 APN 5 30864709 missense probably damaging 0.97
capen UTSW 5 30864867 missense probably damaging 1.00
R1272:Mapre3 UTSW 5 30861888 missense probably damaging 1.00
R1298:Mapre3 UTSW 5 30864867 missense probably damaging 1.00
R1447:Mapre3 UTSW 5 30861807 splice site probably benign
R1524:Mapre3 UTSW 5 30861917 missense probably damaging 0.99
R2006:Mapre3 UTSW 5 30861824 missense probably damaging 1.00
R2086:Mapre3 UTSW 5 30863202 critical splice acceptor site probably null
R5864:Mapre3 UTSW 5 30863238 missense probably damaging 1.00
R6630:Mapre3 UTSW 5 30862542 missense probably damaging 0.98
R7348:Mapre3 UTSW 5 30861829 missense probably benign 0.05
Posted On2013-11-05