Mutagenetix > Incidental Mutations

Incidental Mutation 'R0738:Map2'

70554

Institutional Source

Beutler Lab

Gene Symbol

Map2

Ensembl Gene

ENSMUSG00000015222

Gene Name

microtubule-associated protein 2

Synonyms

repro4, MAP-2, Mtap2, G1-397-34

MMRRC Submission

038919-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R0738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66425189 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024639] [ENSMUST00000077355] [ENSMUST00000114012] [ENSMUST00000114013] [ENSMUST00000114015] [ENSMUST00000114017] [ENSMUST00000114018] [ENSMUST00000172886] [ENSMUST00000173778] [ENSMUST00000173800]

Predicted Effect

probably benign
Transcript: ENSMUST00000024639

SMART Domains

Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077355

SMART Domains

Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114012

SMART Domains

Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	133	140	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	205	221	N/A	INTRINSIC
low complexity region	228	250	N/A	INTRINSIC
Pfam:Tubulin-binding	299	330	2.1e-18	PFAM
Pfam:Tubulin-binding	331	361	9.1e-20	PFAM
Pfam:Tubulin-binding	362	393	1.7e-17	PFAM
low complexity region	421	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114013

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:RII_binding_1	86	103	1.2e-5	PFAM
low complexity region	120	141	N/A	INTRINSIC
Pfam:MAP2_projctn	376	1510	N/A	PFAM
low complexity region	1543	1557	N/A	INTRINSIC
low complexity region	1567	1583	N/A	INTRINSIC
low complexity region	1590	1612	N/A	INTRINSIC
Pfam:Tubulin-binding	1662	1692	1.7e-13	PFAM
Pfam:Tubulin-binding	1693	1723	5.8e-18	PFAM
Pfam:Tubulin-binding	1724	1755	5.9e-18	PFAM
low complexity region	1783	1796	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114015

SMART Domains

Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114017

SMART Domains

Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.3e-18	PFAM
Pfam:Tubulin-binding	332	362	2.3e-19	PFAM
Pfam:Tubulin-binding	363	393	9.9e-20	PFAM
Pfam:Tubulin-binding	394	425	1.9e-17	PFAM
low complexity region	453	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114018

SMART Domains

Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.3e-18	PFAM
Pfam:Tubulin-binding	332	362	2.3e-19	PFAM
Pfam:Tubulin-binding	363	393	9.9e-20	PFAM
Pfam:Tubulin-binding	394	425	1.9e-17	PFAM
low complexity region	453	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151423

Predicted Effect

probably benign
Transcript: ENSMUST00000172886

SMART Domains

Protein: ENSMUSP00000133446
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	107	3.9e-54	PFAM
low complexity region	112	126	N/A	INTRINSIC
low complexity region	136	152	N/A	INTRINSIC
low complexity region	159	181	N/A	INTRINSIC
Pfam:Tubulin-binding	230	261	1.4e-18	PFAM
Pfam:Tubulin-binding	262	292	1.4e-19	PFAM
Pfam:Tubulin-binding	293	323	6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173778

SMART Domains

Protein: ENSMUSP00000134651
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	124	4.8e-84	PFAM
low complexity region	157	171	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC
low complexity region	204	226	N/A	INTRINSIC
Pfam:Tubulin-binding	275	306	1.6e-18	PFAM
Pfam:Tubulin-binding	307	337	1.6e-19	PFAM
Pfam:Tubulin-binding	338	368	7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173800

SMART Domains

Protein: ENSMUSP00000134518
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	23	2.2e-11	PFAM
low complexity region	55	69	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	102	124	N/A	INTRINSIC
Pfam:Tubulin-binding	173	204	8.7e-19	PFAM
Pfam:Tubulin-binding	205	235	3.8e-20	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered contextual memory. Mice homozygous for another knock-out allele display decreased body weight, altered microtubule density and organization in Purkinje cell dendrites, and reduced dendritic length inhippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,240,953	M189K	probably benign	Het
Ank1	A	T	8: 23,114,114	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,645,249		probably benign	Het
Cd9	G	T	6: 125,462,140	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,999,462		probably benign	Het
Ch25h	T	C	19: 34,474,387	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,190,107		probably null	Het
Defa22	C	T	8: 21,162,375	T19I	probably benign	Het
Dscam	T	C	16: 96,819,781	N576D	possibly damaging	Het
Epha3	T	C	16: 63,595,612	M675V	probably damaging	Het
Fam241a	C	A	3: 127,870,793	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,529,670	I86N	probably damaging	Het
Herc4	C	T	10: 63,289,149	P514L	possibly damaging	Het
Ide	A	T	19: 37,277,965	L813*	probably null	Het
Igkv12-41	G	A	6: 69,858,691	Q26*	probably null	Het
Itsn2	T	C	12: 4,635,681	V483A	probably benign	Het
Kcp	A	T	6: 29,490,439	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,840,592	E389*	probably null	Het
Lrp6	G	T	6: 134,542,045	A19E	probably benign	Het
Mad1l1	A	G	5: 140,300,560	L228P	probably damaging	Het
Med13l	T	A	5: 118,751,633	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,754,935	N735S	probably benign	Het
Mid2	A	G	X: 140,763,676	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,220,286	Q58*	probably null	Het
Mttp	A	G	3: 138,103,313	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,697,910	S278P	probably damaging	Het
Ninj2	A	G	6: 120,198,137		probably benign	Het
Nsd3	T	A	8: 25,678,709		probably null	Het
Olfr1454	A	T	19: 13,063,738	E109V	probably damaging	Het
Olfr895	T	C	9: 38,269,125	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,308,711	N358S	probably damaging	Het
Plch1	T	C	3: 63,702,553		probably benign	Het
Popdc3	T	C	10: 45,315,258	L155P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,176,782	I24N	unknown	Het
Rc3h2	T	A	2: 37,405,374	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 83,998,996		probably benign	Het
Spopl	T	C	2: 23,537,521	T200A	probably benign	Het
Tarbp1	A	G	8: 126,438,801		probably null	Het
Thnsl1	T	A	2: 21,213,362	H121Q	probably damaging	Het
Tll1	T	C	8: 64,101,950	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,223,702	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,519,412	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,295,534	I46N	probably damaging	Het

Other mutations in Map2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Map2	APN	1	66425331	missense	probably damaging	1.00
IGL02135:Map2	APN	1	66380761	nonsense	probably null
IGL02526:Map2	APN	1	66380717	missense	possibly damaging	0.94
Annas	UTSW	1	66433597	critical splice donor site	probably null
calliope	UTSW	1	66425298	missense	probably damaging	1.00
carthage	UTSW	1	66414648	missense	probably damaging	1.00
costas	UTSW	1	66412653	missense	possibly damaging	0.94
Jacobin	UTSW	1	66399419	missense	probably damaging	1.00
ruby_throat	UTSW	1	66414884	missense	possibly damaging	0.67
Rufous	UTSW	1	66380768	missense	probably damaging	1.00
Speckled	UTSW	1	66412727	nonsense	probably null
Sunbird	UTSW	1	66415487	missense	probably benign	0.01
E0370:Map2	UTSW	1	66416724	unclassified	probably benign
PIT4362001:Map2	UTSW	1	66412518	missense	probably benign	0.05
R0067:Map2	UTSW	1	66413163	missense	probably benign	0.04
R0238:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0238:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0239:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0239:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0268:Map2	UTSW	1	66380722	nonsense	probably null
R0302:Map2	UTSW	1	66414828	missense	probably benign	0.15
R0305:Map2	UTSW	1	66413094	missense	probably benign	0.00
R0409:Map2	UTSW	1	66433580	missense	probably damaging	1.00
R0561:Map2	UTSW	1	66425497	missense	probably damaging	1.00
R0674:Map2	UTSW	1	66413202	missense	probably damaging	1.00
R0893:Map2	UTSW	1	66380768	missense	probably damaging	1.00
R1305:Map2	UTSW	1	66425395	missense	probably damaging	1.00
R1534:Map2	UTSW	1	66413180	missense	probably benign	0.33
R1632:Map2	UTSW	1	66415086	missense	possibly damaging	0.60
R1682:Map2	UTSW	1	66415622	splice site	probably null
R1774:Map2	UTSW	1	66414074	missense	probably damaging	1.00
R2014:Map2	UTSW	1	66416136	missense	possibly damaging	0.55
R2017:Map2	UTSW	1	66412799	missense	probably damaging	1.00
R2050:Map2	UTSW	1	66414314	missense	probably damaging	0.98
R2093:Map2	UTSW	1	66399440	missense	probably damaging	1.00
R2214:Map2	UTSW	1	66420186	missense	probably damaging	0.99
R2284:Map2	UTSW	1	66414068	missense	probably damaging	1.00
R3011:Map2	UTSW	1	66414612	missense	probably damaging	1.00
R3105:Map2	UTSW	1	66433597	critical splice donor site	probably null
R3708:Map2	UTSW	1	66416555	unclassified	probably benign
R3709:Map2	UTSW	1	66415856	nonsense	probably null
R3729:Map2	UTSW	1	66412446	missense	possibly damaging	0.80
R3760:Map2	UTSW	1	66438918	missense	probably damaging	1.00
R3788:Map2	UTSW	1	66416863	missense	probably damaging	0.99
R3789:Map2	UTSW	1	66416863	missense	probably damaging	0.99
R4003:Map2	UTSW	1	66415740	missense	probably damaging	1.00
R4120:Map2	UTSW	1	66415904	missense	probably damaging	1.00
R4172:Map2	UTSW	1	66413600	missense	possibly damaging	0.89
R4198:Map2	UTSW	1	66425298	missense	probably damaging	1.00
R4200:Map2	UTSW	1	66425298	missense	probably damaging	1.00
R4205:Map2	UTSW	1	66425290	missense	probably damaging	1.00
R4613:Map2	UTSW	1	66425469	missense	probably damaging	1.00
R4700:Map2	UTSW	1	66410637	missense	probably damaging	0.96
R4974:Map2	UTSW	1	66413505	missense	probably benign	0.15
R5007:Map2	UTSW	1	66413289	missense	possibly damaging	0.86
R5039:Map2	UTSW	1	66438796	missense	probably damaging	1.00
R5237:Map2	UTSW	1	66439010	unclassified	probably benign
R5313:Map2	UTSW	1	66425379	missense	probably damaging	1.00
R5455:Map2	UTSW	1	66399391	missense	probably damaging	1.00
R5490:Map2	UTSW	1	66413133	missense	probably damaging	1.00
R5517:Map2	UTSW	1	66415256	missense	probably benign	0.00
R5532:Map2	UTSW	1	66414620	missense	probably damaging	1.00
R5583:Map2	UTSW	1	66416037	missense	probably damaging	1.00
R5764:Map2	UTSW	1	66414875	missense	probably damaging	0.99
R5996:Map2	UTSW	1	66414884	missense	possibly damaging	0.67
R6058:Map2	UTSW	1	66415414	missense	probably benign	0.05
R6199:Map2	UTSW	1	66425478	missense	probably damaging	1.00
R6208:Map2	UTSW	1	66431590	missense	probably damaging	1.00
R6276:Map2	UTSW	1	66399419	missense	probably damaging	1.00
R6378:Map2	UTSW	1	66415329	missense	probably damaging	1.00
R6424:Map2	UTSW	1	66414787	missense	possibly damaging	0.67
R6743:Map2	UTSW	1	66415607	missense	probably benign	0.04
R6837:Map2	UTSW	1	66414572	missense	probably damaging	1.00
R6901:Map2	UTSW	1	66421773	missense	possibly damaging	0.94
R6984:Map2	UTSW	1	66415236	missense	possibly damaging	0.90
R6989:Map2	UTSW	1	66414906	missense	probably benign	0.00
R7001:Map2	UTSW	1	66415487	missense	probably benign	0.01
R7055:Map2	UTSW	1	66416824	missense	probably damaging	1.00
R7094:Map2	UTSW	1	66412727	nonsense	probably null
R7106:Map2	UTSW	1	66410744	missense	possibly damaging	0.92
R7182:Map2	UTSW	1	66412653	missense	possibly damaging	0.94
R7235:Map2	UTSW	1	66414648	missense	probably damaging	1.00
R7424:Map2	UTSW	1	66414824	missense	possibly damaging	0.69
R7473:Map2	UTSW	1	66415458	missense	probably damaging	1.00
R7642:Map2	UTSW	1	66413307	missense	probably benign	0.01
R7660:Map2	UTSW	1	66414377	missense	probably damaging	1.00
R7673:Map2	UTSW	1	66413774	missense	probably benign	0.03
R7768:Map2	UTSW	1	66414483	missense	possibly damaging	0.94
R7796:Map2	UTSW	1	66416495	splice site	probably null
R7834:Map2	UTSW	1	66416488	missense	probably damaging	1.00
R7842:Map2	UTSW	1	66416411	missense	probably benign
R7955:Map2	UTSW	1	66413716	missense	probably damaging	1.00
R8056:Map2	UTSW	1	66415620	missense	probably damaging	0.99
R8118:Map2	UTSW	1	66425391	missense	probably damaging	1.00
R8135:Map2	UTSW	1	66413669	missense	probably damaging	1.00
R8152:Map2	UTSW	1	66414743	missense	probably benign	0.00
R8223:Map2	UTSW	1	66425490	missense	probably damaging	1.00
R8329:Map2	UTSW	1	66415113	missense	probably benign	0.01
R8344:Map2	UTSW	1	66421713	missense	probably damaging	1.00
R8475:Map2	UTSW	1	66414005	missense	probably damaging	1.00
R8548:Map2	UTSW	1	66413340	missense	probably damaging	1.00
V8831:Map2	UTSW	1	66415845	missense	probably damaging	1.00
Z1177:Map2	UTSW	1	66380680	missense	probably benign	0.01
Z1177:Map2	UTSW	1	66438361	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCATTCAGGAGTCTTCCCACAATC -3'
(R):5'- ACTTTCTTCTCACTGGGCACCAGG -3'

Sequencing Primer
(F):5'- TAACTACAGGTCGTCCATATGACTC -3'
(R):5'- GGGCACCAGGATGCCAG -3'

Posted On

2013-09-30