Incidental Mutation 'R5184:Mapre1'
ID 397732
Institutional Source Beutler Lab
Gene Symbol Mapre1
Ensembl Gene ENSMUSG00000027479
Gene Name microtubule-associated protein, RP/EB family, member 1
Synonyms BIM1p, D2Ertd459e, 5530600P05Rik, Eb1
MMRRC Submission 042763-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R5184 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 153583194-153615230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153599987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 137 (V137E)
Ref Sequence ENSEMBL: ENSMUSP00000028981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028981]
AlphaFold Q61166
PDB Structure Solution structure of the CH domain from mouse EB-1 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028981
AA Change: V137E

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028981
Gene: ENSMUSG00000027479
AA Change: V137E

DomainStartEndE-ValueType
Pfam:CH 14 114 5.2e-11 PFAM
Pfam:EB1 210 248 1.2e-20 PFAM
low complexity region 256 267 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123795
Meta Mutation Damage Score 0.1067 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aph1a T A 3: 95,803,051 (GRCm39) probably null Het
Arid3a A G 10: 79,786,603 (GRCm39) E452G possibly damaging Het
Barhl2 A G 5: 106,605,506 (GRCm39) S68P unknown Het
Carf T C 1: 60,147,333 (GRCm39) S17P probably damaging Het
Ccdc90b A G 7: 92,224,019 (GRCm39) D145G probably damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Daam2 A G 17: 49,801,419 (GRCm39) I106T possibly damaging Het
Dmtf1 A G 5: 9,176,641 (GRCm39) V437A probably benign Het
E2f2 A T 4: 135,911,751 (GRCm39) Y254F possibly damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Ern2 T C 7: 121,779,182 (GRCm39) T221A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fermt1 A G 2: 132,783,883 (GRCm39) V42A possibly damaging Het
Fgf3 A G 7: 144,396,547 (GRCm39) D187G probably damaging Het
Flnb T A 14: 7,901,945 (GRCm38) V936E probably damaging Het
Herc2 T C 7: 55,772,099 (GRCm39) Y1093H probably damaging Het
Invs A G 4: 48,283,242 (GRCm39) probably benign Het
Katnb1 T A 8: 95,824,608 (GRCm39) I534N possibly damaging Het
Kcnq5 A T 1: 21,472,711 (GRCm39) D826E probably damaging Het
Klra9 A T 6: 130,165,675 (GRCm39) N113K probably benign Het
Knl1 A G 2: 118,899,657 (GRCm39) K453E probably damaging Het
Lgi4 C T 7: 30,770,182 (GRCm39) probably benign Het
Lpin3 A G 2: 160,739,058 (GRCm39) S289G probably benign Het
Mark4 A G 7: 19,181,168 (GRCm39) F144L possibly damaging Het
Mogat2 G T 7: 98,872,842 (GRCm39) A114E possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nell2 A G 15: 95,425,690 (GRCm39) L19P possibly damaging Het
Nfia A T 4: 97,671,585 (GRCm39) K98N probably damaging Het
Nutm1 T A 2: 112,079,345 (GRCm39) T857S possibly damaging Het
Or14a257 TG T 7: 86,138,499 (GRCm39) probably null Het
Or52a5 T C 7: 103,426,611 (GRCm39) K314E probably benign Het
Or8g17 T A 9: 38,929,998 (GRCm39) I280F probably damaging Het
Pde10a T C 17: 9,195,987 (GRCm39) L706P probably damaging Het
Penk A G 4: 4,134,296 (GRCm39) L117P probably damaging Het
Pgap1 A G 1: 54,521,015 (GRCm39) S876P probably damaging Het
Pmfbp1 T C 8: 110,254,399 (GRCm39) I478T possibly damaging Het
Pole G A 5: 110,442,800 (GRCm39) E318K possibly damaging Het
Prr12 C A 7: 44,695,801 (GRCm39) V1222L unknown Het
Prune2 T C 19: 17,193,721 (GRCm39) S3070P possibly damaging Het
Rnf19a A G 15: 36,244,342 (GRCm39) C573R probably benign Het
Rp1l1 T C 14: 64,267,629 (GRCm39) S1072P probably damaging Het
Rskr T C 11: 78,183,573 (GRCm39) F194L probably benign Het
Semp2l1 A T 1: 32,584,729 (GRCm39) C394S probably damaging Het
Sh3pxd2a T C 19: 47,261,850 (GRCm39) N315S possibly damaging Het
Snph T C 2: 151,436,464 (GRCm39) I86V probably damaging Het
Sox6 A G 7: 115,376,463 (GRCm39) Y90H probably damaging Het
Tbc1d13 T A 2: 30,032,323 (GRCm39) C145S probably benign Het
Tcp11l1 T C 2: 104,530,289 (GRCm39) E65G probably damaging Het
Thrb G T 14: 18,011,181 (GRCm38) E186* probably null Het
Tmem101 A G 11: 102,047,059 (GRCm39) Y38H possibly damaging Het
Trarg1 T A 11: 76,571,134 (GRCm39) L50Q probably damaging Het
Urb1 A T 16: 90,580,162 (GRCm39) probably null Het
Usp10 G A 8: 120,683,420 (GRCm39) V764I possibly damaging Het
Usp25 A G 16: 76,906,115 (GRCm39) E857G probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr35 T C 12: 9,068,142 (GRCm39) L775P probably damaging Het
Xpnpep1 T C 19: 53,001,845 (GRCm39) T134A probably benign Het
Zbtb10 T C 3: 9,329,731 (GRCm39) V363A probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Other mutations in Mapre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Mapre1 APN 2 153,588,234 (GRCm39) missense probably damaging 1.00
R1157:Mapre1 UTSW 2 153,599,937 (GRCm39) missense probably benign 0.04
R3877:Mapre1 UTSW 2 153,588,201 (GRCm39) missense possibly damaging 0.95
R7133:Mapre1 UTSW 2 153,606,883 (GRCm39) missense probably benign 0.15
R9463:Mapre1 UTSW 2 153,606,960 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCAAACTGATCTTAGCAACCC -3'
(R):5'- GCCGCAGCATAACCCATATG -3'

Sequencing Primer
(F):5'- ACAGGTTTGATGTTTGCCAAAGC -3'
(R):5'- TAACCCATATGGAGCACCTATG -3'
Posted On 2016-07-06