Mutagenetix > Incidental Mutations

Incidental Mutation 'R6276:Map2'

507613

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66399419 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024639] [ENSMUST00000077355] [ENSMUST00000114012] [ENSMUST00000114013] [ENSMUST00000114015] [ENSMUST00000114017] [ENSMUST00000114018] [ENSMUST00000123647] [ENSMUST00000145419] [ENSMUST00000173855]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024639
AA Change: V98A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000077355
AA Change: V98A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000114012
AA Change: V98A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000114013
AA Change: V98A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000114015
AA Change: V98A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000114017
AA Change: V98A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000114018
AA Change: V98A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222
AA Change: V98A

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 damaging
Transcript: ENSMUST00000123647
AA Change: V98A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119341
Gene: ENSMUSG00000015222
AA Change: V98A

Domain	Start	End	E-Value	Type
Pfam:RII_binding_1	86	103	3.8e-5	PFAM
low complexity region	120	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128673

Predicted Effect

probably damaging
Transcript: ENSMUST00000141148
AA Change: V34A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117996
Gene: ENSMUSG00000015222
AA Change: V34A

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

SMART Domains

Protein: ENSMUSP00000134538
Gene: ENSMUSG00000015222

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173855
AA Change: V98A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134471
Gene: ENSMUSG00000015222
AA Change: V98A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174590

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	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
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
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
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
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
R8680:Map2	UTSW	1	66421713	missense	probably damaging	1.00
R8713:Map2	UTSW	1	66414622	missense	probably damaging	1.00
R8745:Map2	UTSW	1	66413397	missense	probably benign	0.00
R8786:Map2	UTSW	1	66433596	critical splice donor site	probably benign
R8790:Map2	UTSW	1	66438838	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'- GGGACCCTAGAAGAAAAGTTCTC -3'
(R):5'- TGCTTCTAGTAGAGGTGACAGG -3'

Sequencing Primer
(F):5'- GACCCTAGAAGAAAAGTTCTCAATTG -3'
(R):5'- CTTCTAGTAGAGGTGACAGGTGAATG -3'

Posted On

2018-03-15