Incidental Mutation 'R6415:Mapt'
ID 517885
Institutional Source Beutler Lab
Gene Symbol Mapt
Ensembl Gene ENSMUSG00000018411
Gene Name microtubule-associated protein tau
Synonyms Tau, Mtapt
MMRRC Submission 044557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6415 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 104122216-104222916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104189824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 265 (G265S)
Ref Sequence ENSEMBL: ENSMUSP00000102601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100347] [ENSMUST00000106988] [ENSMUST00000106989] [ENSMUST00000106992] [ENSMUST00000106993] [ENSMUST00000132245] [ENSMUST00000132977] [ENSMUST00000145227]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100347
SMART Domains Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 127 139 N/A INTRINSIC
low complexity region 163 212 N/A INTRINSIC
Pfam:Tubulin-binding 232 263 1.4e-18 PFAM
Pfam:Tubulin-binding 264 294 3.3e-21 PFAM
Pfam:Tubulin-binding 295 325 1.6e-19 PFAM
Pfam:Tubulin-binding 326 357 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106988
AA Change: G265S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: G265S

DomainStartEndE-ValueType
low complexity region 188 202 N/A INTRINSIC
low complexity region 261 274 N/A INTRINSIC
low complexity region 466 515 N/A INTRINSIC
Pfam:Tubulin-binding 535 566 3.5e-19 PFAM
Pfam:Tubulin-binding 567 597 8.6e-22 PFAM
Pfam:Tubulin-binding 598 628 4e-20 PFAM
Pfam:Tubulin-binding 629 660 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106989
AA Change: G281S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: G281S

DomainStartEndE-ValueType
low complexity region 204 218 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 482 531 N/A INTRINSIC
Pfam:Tubulin-binding 552 582 1.7e-13 PFAM
Pfam:Tubulin-binding 583 613 6.8e-20 PFAM
Pfam:Tubulin-binding 614 644 2.3e-17 PFAM
Pfam:Tubulin-binding 645 676 3.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106992
SMART Domains Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 105 154 N/A INTRINSIC
Pfam:Tubulin-binding 174 205 6.1e-19 PFAM
Pfam:Tubulin-binding 206 236 1.5e-21 PFAM
Pfam:Tubulin-binding 237 267 6.9e-20 PFAM
Pfam:Tubulin-binding 268 299 4.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106993
SMART Domains Protein: ENSMUSP00000102606
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 103 119 N/A INTRINSIC
low complexity region 140 172 N/A INTRINSIC
Pfam:Tubulin-binding 192 223 4.6e-19 PFAM
Pfam:Tubulin-binding 224 254 1.1e-21 PFAM
Pfam:Tubulin-binding 255 285 5.3e-20 PFAM
Pfam:Tubulin-binding 286 317 3.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132245
Predicted Effect probably benign
Transcript: ENSMUST00000132977
SMART Domains Protein: ENSMUSP00000123260
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 76 88 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138384
Predicted Effect probably benign
Transcript: ENSMUST00000145227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146353
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pcdha8 T C 18: 37,127,614 (GRCm39) Y699H probably damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Sub1 T A 15: 11,986,560 (GRCm39) M96L probably benign Het
Tanc1 T C 2: 59,667,458 (GRCm39) V1233A probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Trap1 C T 16: 3,861,856 (GRCm39) R636H possibly damaging Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly damaging Het
Other mutations in Mapt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Mapt APN 11 104,213,311 (GRCm39) missense probably damaging 1.00
IGL00473:Mapt APN 11 104,178,009 (GRCm39) missense probably damaging 1.00
IGL01599:Mapt APN 11 104,185,741 (GRCm39) missense probably damaging 1.00
IGL01862:Mapt APN 11 104,180,828 (GRCm39) intron probably benign
IGL02315:Mapt APN 11 104,218,904 (GRCm39) missense probably damaging 0.99
IGL03369:Mapt APN 11 104,173,259 (GRCm39) missense probably damaging 1.00
R0040:Mapt UTSW 11 104,196,224 (GRCm39) missense probably damaging 0.97
R0040:Mapt UTSW 11 104,196,224 (GRCm39) missense probably damaging 0.97
R1913:Mapt UTSW 11 104,218,901 (GRCm39) missense probably damaging 1.00
R1918:Mapt UTSW 11 104,189,325 (GRCm39) missense probably benign 0.26
R3423:Mapt UTSW 11 104,189,548 (GRCm39) nonsense probably null
R3425:Mapt UTSW 11 104,189,548 (GRCm39) nonsense probably null
R3831:Mapt UTSW 11 104,177,961 (GRCm39) missense possibly damaging 0.89
R3833:Mapt UTSW 11 104,177,961 (GRCm39) missense possibly damaging 0.89
R4095:Mapt UTSW 11 104,201,362 (GRCm39) critical splice donor site probably null
R4814:Mapt UTSW 11 104,189,786 (GRCm39) missense probably benign 0.04
R4890:Mapt UTSW 11 104,218,975 (GRCm39) missense probably damaging 1.00
R5613:Mapt UTSW 11 104,193,216 (GRCm39) missense possibly damaging 0.82
R6956:Mapt UTSW 11 104,209,081 (GRCm39) splice site probably null
R7395:Mapt UTSW 11 104,218,949 (GRCm39) missense probably damaging 0.99
R7406:Mapt UTSW 11 104,213,350 (GRCm39) missense possibly damaging 0.94
R7547:Mapt UTSW 11 104,213,138 (GRCm39) splice site probably null
R7554:Mapt UTSW 11 104,189,528 (GRCm39) missense probably benign 0.09
R7555:Mapt UTSW 11 104,189,528 (GRCm39) missense probably benign 0.09
R7556:Mapt UTSW 11 104,189,528 (GRCm39) missense probably benign 0.09
R8285:Mapt UTSW 11 104,189,628 (GRCm39) missense probably benign 0.01
R8694:Mapt UTSW 11 104,189,440 (GRCm39) missense probably benign
R8841:Mapt UTSW 11 104,201,203 (GRCm39) missense probably damaging 1.00
R8942:Mapt UTSW 11 104,173,307 (GRCm39) critical splice donor site probably null
R9241:Mapt UTSW 11 104,189,797 (GRCm39) missense probably benign 0.15
R9396:Mapt UTSW 11 104,189,555 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- ATGAATCATCCCAGGATTCCC -3'
(R):5'- TTGAGGAACCCGACTGACTG -3'

Sequencing Primer
(F):5'- AGGATTCCCCTCCCTCCCAG -3'
(R):5'- AGGTTCCTGAAGGCTAGCC -3'
Posted On 2018-05-24