Incidental Mutation 'R9182:Mapre3'
ID 697076
Institutional Source Beutler Lab
Gene Symbol Mapre3
Ensembl Gene ENSMUSG00000029166
Gene Name microtubule-associated protein, RP/EB family, member 3
Synonyms EB3
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.820) question?
Stock # R9182 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 30971985-31023450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31022016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 190 (S190P)
Ref Sequence ENSEMBL: ENSMUSP00000031058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031058] [ENSMUST00000114716] [ENSMUST00000200692] [ENSMUST00000201203] [ENSMUST00000202501]
AlphaFold Q6PER3
Predicted Effect possibly damaging
Transcript: ENSMUST00000031058
AA Change: S190P

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: S190P

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 benign
Transcript: ENSMUST00000200692
AA Change: S175P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: S175P

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 probably benign
Transcript: ENSMUST00000202501
SMART Domains Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

DomainStartEndE-ValueType
Pfam:CH 14 114 6.9e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (99/99)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,243,473 (GRCm39) M190K probably damaging Het
4931406B18Rik A G 7: 43,153,640 (GRCm39) W3R probably damaging Het
Acap3 T C 4: 155,989,892 (GRCm39) L720P probably damaging Het
Actc1 T C 2: 113,882,494 (GRCm39) T7A probably benign Het
Angpt2 T A 8: 18,760,658 (GRCm39) probably null Het
Babam2 T A 5: 32,058,401 (GRCm39) D228E possibly damaging Het
Ccar1 G A 10: 62,621,347 (GRCm39) L34F probably damaging Het
Ccdc83 T C 7: 89,886,102 (GRCm39) D219G probably damaging Het
Cct2 A G 10: 116,892,025 (GRCm39) V341A probably benign Het
Cdc20b G A 13: 113,208,503 (GRCm39) probably null Het
Chd7 T A 4: 8,838,737 (GRCm39) L1312Q probably damaging Het
Cltc G A 11: 86,595,982 (GRCm39) T1252I probably damaging Het
Cnpy1 G T 5: 28,450,799 (GRCm39) D2E possibly damaging Het
Crat C T 2: 30,298,085 (GRCm39) V205M probably damaging Het
Cspg4b A G 13: 113,457,358 (GRCm39) N1135D Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dglucy T C 12: 100,811,028 (GRCm39) V254A possibly damaging Het
Disp3 A G 4: 148,354,841 (GRCm39) S392P probably damaging Het
Dlx6 A T 6: 6,863,456 (GRCm39) Q26L probably benign Het
Dnah3 T C 7: 119,684,351 (GRCm39) D258G probably damaging Het
Dnah6 A T 6: 73,121,688 (GRCm39) Y1431* probably null Het
Dnah7b T C 1: 46,330,038 (GRCm39) I3294T probably benign Het
Dnai2 A G 11: 114,623,839 (GRCm39) N34S probably benign Het
Dock2 T C 11: 34,260,398 (GRCm39) K981R possibly damaging Het
Entpd8 T C 2: 24,971,931 (GRCm39) I33T probably benign Het
Eppk1 A G 15: 75,995,453 (GRCm39) L476P probably benign Het
Etv1 T A 12: 38,830,716 (GRCm39) probably null Het
Fads2b T C 2: 85,330,581 (GRCm39) H242R probably benign Het
Fam193a T A 5: 34,623,361 (GRCm39) N1316K possibly damaging Het
Fkbp4 T C 6: 128,415,382 (GRCm39) E31G probably benign Het
Fnbp1l C T 3: 122,363,345 (GRCm39) D81N probably damaging Het
Fstl4 T C 11: 53,024,905 (GRCm39) V259A probably damaging Het
Glipr1l1 T C 10: 111,912,056 (GRCm39) S197P probably damaging Het
Gprin3 A T 6: 59,331,197 (GRCm39) M370K probably benign Het
Gsc G T 12: 104,439,120 (GRCm39) Y85* probably null Het
Gys2 T G 6: 142,391,735 (GRCm39) Y509S probably damaging Het
Gys2 T C 6: 142,406,978 (GRCm39) N126S possibly damaging Het
Hmcn1 A T 1: 150,488,405 (GRCm39) W4292R probably damaging Het
Hmcn1 C A 1: 150,500,337 (GRCm39) E3952* probably null Het
Hsd3b9 C T 3: 98,354,005 (GRCm39) A165T possibly damaging Het
Htr1f T C 16: 64,746,825 (GRCm39) M156V probably benign Het
Il21r G A 7: 125,228,213 (GRCm39) G228E probably benign Het
Kat6b C T 14: 21,567,187 (GRCm39) S82L probably benign Het
Kntc1 T A 5: 123,940,355 (GRCm39) L1651Q probably damaging Het
Lipi G T 16: 75,357,673 (GRCm39) Y297* probably null Het
Mmp8 T A 9: 7,567,467 (GRCm39) Y442* probably null Het
Mmut A G 17: 41,252,310 (GRCm39) E284G probably damaging Het
Mt3 G A 8: 94,880,615 (GRCm39) E62K unknown Het
Myh13 A G 11: 67,228,579 (GRCm39) E373G probably damaging Het
Myh7 T C 14: 55,226,374 (GRCm39) Y422C probably damaging Het
Nalcn A G 14: 123,834,016 (GRCm39) V53A probably damaging Het
Nucb2 A G 7: 116,121,070 (GRCm39) probably null Het
Opn5 A T 17: 42,903,890 (GRCm39) H148Q probably damaging Het
Or13a23-ps1 A T 7: 140,118,782 (GRCm39) L117F probably benign Het
Or51h1 A T 7: 102,308,927 (GRCm39) I300L probably damaging Het
Or51v14 T C 7: 103,261,063 (GRCm39) K166E possibly damaging Het
Or6b1 A T 6: 42,815,010 (GRCm39) N65I probably benign Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or8b56 C A 9: 38,739,172 (GRCm39) H56N probably damaging Het
Osmr T A 15: 6,850,569 (GRCm39) D679V probably damaging Het
Pde4dip T C 3: 97,602,314 (GRCm39) D2305G probably benign Het
Pdgfrl A T 8: 41,429,996 (GRCm39) Q121L probably damaging Het
Pls1 C A 9: 95,658,811 (GRCm39) V226F probably damaging Het
Plxnd1 T A 6: 115,970,746 (GRCm39) I341F probably damaging Het
Ppfia2 T A 10: 106,763,640 (GRCm39) M1211K probably benign Het
Ppfibp2 T A 7: 107,308,053 (GRCm39) Y229N possibly damaging Het
Prss53 A G 7: 127,487,554 (GRCm39) S266P probably benign Het
Pycr2 C T 1: 180,734,397 (GRCm39) Q226* probably null Het
Rad50 T C 11: 53,583,590 (GRCm39) H397R probably benign Het
Raf1 T C 6: 115,600,440 (GRCm39) E393G probably damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Robo4 A T 9: 37,313,206 (GRCm39) probably benign Het
Sbf1 A T 15: 89,173,806 (GRCm39) probably null Het
Serpinb6a T C 13: 34,109,360 (GRCm39) D145G probably damaging Het
Setx T A 2: 29,061,299 (GRCm39) M2236K probably damaging Het
Sgms1 A G 19: 32,101,758 (GRCm39) V416A probably benign Het
Six5 T G 7: 18,830,932 (GRCm39) S520A probably benign Het
Sox5 T A 6: 143,779,118 (GRCm39) I722F possibly damaging Het
Spag17 T G 3: 99,966,158 (GRCm39) I1147S possibly damaging Het
Spice1 C T 16: 44,206,065 (GRCm39) T842I possibly damaging Het
Ssbp2 A G 13: 91,848,800 (GRCm39) T358A probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tbc1d2b C A 9: 90,152,652 (GRCm39) C38F probably damaging Het
Tecrl C A 5: 83,457,049 (GRCm39) probably null Het
Tgm7 T C 2: 120,926,980 (GRCm39) N390D probably benign Het
Thsd4 T G 9: 59,894,649 (GRCm39) M770L probably benign Het
Tmod2 C A 9: 75,504,624 (GRCm39) probably benign Het
Tnks A G 8: 35,308,905 (GRCm39) probably null Het
Tox3 T C 8: 90,984,507 (GRCm39) N224S probably benign Het
Trappc10 C T 10: 78,050,464 (GRCm39) E326K probably damaging Het
Usp16 T A 16: 87,276,542 (GRCm39) F627I probably benign Het
Vcam1 T C 3: 115,911,004 (GRCm39) I465V probably benign Het
Vmn1r128 T C 7: 21,083,683 (GRCm39) I129T possibly damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r2 A T 3: 64,044,802 (GRCm39) C115S probably damaging Het
Vmn2r85 A C 10: 130,265,350 (GRCm39) S44R probably benign Het
Wasf3 T A 5: 146,403,635 (GRCm39) Y248* probably null Het
Yipf5 A T 18: 40,343,851 (GRCm39) L127M probably damaging Het
Zbp1 G T 2: 173,050,933 (GRCm39) C312* probably null Het
Zfp423 A T 8: 88,508,742 (GRCm39) F534Y probably damaging Het
Zfp69 T G 4: 120,792,308 (GRCm39) Y156S probably damaging Het
Zmat4 A G 8: 24,419,226 (GRCm39) N155S probably 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
R1298:Mapre3 UTSW 5 31,022,211 (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
Predicted Primers PCR Primer
(F):5'- TGTTGCATGGTTCTCACACC -3'
(R):5'- CATGTTCCTGGCAGATCAGCTC -3'

Sequencing Primer
(F):5'- TGGTTCTCACACCAGGCTG -3'
(R):5'- TGGCAGATCAGCTCGATGTCTC -3'
Posted On 2022-02-07