Mutagenetix > Incidental Mutations

Incidental Mutation 'R1534:Map2'

166799

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

039573-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66413180 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 492 (V492I)

Ref Sequence

ENSEMBL: ENSMUSP00000134471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024639] [ENSMUST00000077355] [ENSMUST00000114012] [ENSMUST00000114013] [ENSMUST00000114015] [ENSMUST00000114017] [ENSMUST00000114018] [ENSMUST00000145419] [ENSMUST00000172886] [ENSMUST00000173778] [ENSMUST00000173800] [ENSMUST00000173855]

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
AA Change: V410I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: V410I

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: ENSMUST00000127388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133522

Predicted Effect

probably benign
Transcript: ENSMUST00000141148

SMART Domains

Protein: ENSMUSP00000117996
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:RII_binding_1	23	40	3.2e-6	PFAM
low complexity region	70	77	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145419
AA Change: V252I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134538
Gene: ENSMUSG00000015222
AA Change: V252I

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	218	608	1.7e-250	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173855
AA Change: V492I

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134471
Gene: ENSMUSG00000015222
AA Change: V492I

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	142	163	N/A	INTRINSIC
Pfam:MAP2_projctn	458	565	1.1e-52	PFAM

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	T	7: 29,530,429		noncoding transcript	Het
Adcy10	T	C	1: 165,518,312	I310T	probably damaging	Het
Adcy5	T	C	16: 35,253,259	V469A	possibly damaging	Het
Agrn	C	T	4: 156,176,684	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,523,151	V133M	probably damaging	Het
Ankrd13c	A	G	3: 158,001,120	T448A	probably benign	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
B4galt2	T	C	4: 117,877,472	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,229,499	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,689,663	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,848,884	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,851,149	K343N	probably benign	Het
Cyp4f18	T	A	8: 71,992,955	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,302,726	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,772,040	D391G	probably damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Fat4	T	C	3: 38,890,089	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,878,408	T52S	probably benign	Het
Gan	G	A	8: 117,187,429	V189I	probably benign	Het
Hnf1b	A	G	11: 83,893,583		probably benign	Het
Itgae	T	C	11: 73,145,605	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lrrc18	A	G	14: 33,008,521	K6E	possibly damaging	Het
Mtr	A	T	13: 12,235,544		probably benign	Het
Ncor1	G	T	11: 62,378,504	A689E	possibly damaging	Het
Olfr153	T	A	2: 87,532,672	V213D	probably damaging	Het
Olfr668	G	A	7: 104,925,414	L117F	possibly damaging	Het
Palm	T	G	10: 79,816,903	V42G	probably damaging	Het
Pcm1	G	A	8: 41,287,701	V995I	probably benign	Het
Pfkp	A	G	13: 6,619,538	V215A	probably damaging	Het
Prkg2	T	C	5: 98,994,561	Y238C	probably damaging	Het
Prr14	C	T	7: 127,473,982	A167V	probably benign	Het
Ptprn	A	C	1: 75,257,943		probably null	Het
Rexo2	A	T	9: 48,468,890	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,988,313	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Het
Satb2	A	T	1: 56,948,233	C64*	probably null	Het
Sez6	A	G	11: 77,963,045	Y347C	probably damaging	Het
Sos2	A	G	12: 69,616,955	I585T	probably damaging	Het
Spg11	G	A	2: 122,092,325	T881M	probably damaging	Het
Tiam1	A	T	16: 89,867,508		probably null	Het
Tmem136	A	G	9: 43,111,628	W126R	probably damaging	Het
Top1	T	C	2: 160,714,232	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,514,213	S33G	probably benign	Het
Tspan11	G	C	6: 127,949,805	V239L	probably benign	Het
Ubr4	T	C	4: 139,428,151	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,985,506	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,694,027	S771P	probably benign	Het
Wars2	C	T	3: 99,216,861	A346V	probably damaging	Het
Zfp142	G	T	1: 74,572,088	N849K	probably benign	Het
Zfp180	A	T	7: 24,101,523	N66I	probably benign	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
ruby_throat	UTSW	1	66414884	missense	possibly damaging	0.67
E0370:Map2	UTSW	1	66416724	unclassified	probably benign
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
R0738:Map2	UTSW	1	66425189	splice site	probably benign
R0893:Map2	UTSW	1	66380768	missense	probably damaging	1.00
R1305:Map2	UTSW	1	66425395	missense	probably damaging	1.00
R1632:Map2	UTSW	1	66415086	missense	possibly damaging	0.60
R1682:Map2	UTSW	1	66415622	unclassified	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
V8831:Map2	UTSW	1	66415845	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCAGTTTGACTCTCCCATGCC -3'
(R):5'- TGCTCGGTGGAAGTCTGAATTACAC -3'

Sequencing Primer
(F):5'- CAGATGACAAAGTGTCTCTGC -3'
(R):5'- GCCACAGCTTCTTCGATAGAAAC -3'

Posted On

2014-04-13