Mutagenetix > Incidental Mutations

Incidental Mutation 'R7555:Mapt'

584715

Institutional Source

Beutler Lab

Gene Symbol

Mapt

Ensembl Gene

ENSMUSG00000018411

Gene Name

microtubule-associated protein tau

Synonyms

Mtapt, Tau

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104231390-104332090 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104298702 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 182 (P182Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100347] [ENSMUST00000106988] [ENSMUST00000106989] [ENSMUST00000106992] [ENSMUST00000106993] [ENSMUST00000132245] [ENSMUST00000132977] [ENSMUST00000145227]

Predicted Effect

probably benign
Transcript: ENSMUST00000100347

SMART Domains

Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411

Domain	Start	End	E-Value	Type
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: P166Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: P166Q

Domain	Start	End	E-Value	Type
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: P182Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: P182Q

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	76	88	N/A	INTRINSIC
low complexity region	110	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145227

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Chml	G	A	1: 175,687,890	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mmp14	G	T	14: 54,437,742	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Mapt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Mapt	APN	11	104322485	missense	probably damaging	1.00
IGL00473:Mapt	APN	11	104287183	missense	probably damaging	1.00
IGL01599:Mapt	APN	11	104294915	missense	probably damaging	1.00
IGL01862:Mapt	APN	11	104290002	intron	probably benign
IGL02315:Mapt	APN	11	104328078	missense	probably damaging	0.99
IGL03369:Mapt	APN	11	104282433	missense	probably damaging	1.00
R0040:Mapt	UTSW	11	104305398	missense	probably damaging	0.97
R0040:Mapt	UTSW	11	104305398	missense	probably damaging	0.97
R1913:Mapt	UTSW	11	104328075	missense	probably damaging	1.00
R1918:Mapt	UTSW	11	104298499	missense	probably benign	0.26
R3423:Mapt	UTSW	11	104298722	nonsense	probably null
R3425:Mapt	UTSW	11	104298722	nonsense	probably null
R3831:Mapt	UTSW	11	104287135	missense	possibly damaging	0.89
R3833:Mapt	UTSW	11	104287135	missense	possibly damaging	0.89
R4095:Mapt	UTSW	11	104310536	critical splice donor site	probably null
R4814:Mapt	UTSW	11	104298960	missense	probably benign	0.04
R4890:Mapt	UTSW	11	104328149	missense	probably damaging	1.00
R5613:Mapt	UTSW	11	104302390	missense	possibly damaging	0.82
R6415:Mapt	UTSW	11	104298998	missense	probably benign	0.01
R6956:Mapt	UTSW	11	104318255	splice site	probably null
R7395:Mapt	UTSW	11	104328123	missense	probably damaging	0.99
R7406:Mapt	UTSW	11	104322524	missense	possibly damaging	0.94
R7547:Mapt	UTSW	11	104322312	splice site	probably null
R7554:Mapt	UTSW	11	104298702	missense	probably benign	0.09
R7556:Mapt	UTSW	11	104298702	missense	probably benign	0.09
R8285:Mapt	UTSW	11	104298802	missense	probably benign	0.01
R8694:Mapt	UTSW	11	104298614	missense	probably benign
R8841:Mapt	UTSW	11	104310377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCTTGTCGAACCAGGG -3'
(R):5'- TCTGCGGAGACTTTGGAGAAG -3'

Sequencing Primer
(F):5'- TTGTCGAACCAGGGCGTCG -3'
(R):5'- GGACGGAACCCTCAGTTG -3'

Posted On

2019-10-17