Mutagenetix > Incidental Mutations

Incidental Mutation 'R4974:Map2'

382447

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

042569-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66413505 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 360 (V360A)

Ref Sequence

ENSEMBL: ENSMUSP00000134538 (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: V518A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: V518A

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

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: V360A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134538
Gene: ENSMUSG00000015222
AA Change: V360A

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

SMART Domains

Protein: ENSMUSP00000134471
Gene: ENSMUSG00000015222

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

0.0636

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,820,287	F655Y	probably damaging	Het
A730061H03Rik	C	T	14: 55,560,117		probably benign	Het
Acsf2	A	C	11: 94,569,329	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,280,924	R347S	probably benign	Het
Akap9	A	G	5: 3,961,466	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,308,013		probably benign	Het
Aqr	T	C	2: 114,113,351	H1102R	probably damaging	Het
Arrdc2	A	G	8: 70,837,518	V173A	probably benign	Het
Aspm	T	C	1: 139,478,010	V1545A	probably benign	Het
Bbs5	C	T	2: 69,647,234		probably benign	Het
Bnip2	A	G	9: 70,003,434	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,648,523	T1531A	probably damaging	Het
Cast	T	C	13: 74,807,823	K9R	probably benign	Het
Cfap46	A	T	7: 139,607,188		probably null	Het
Cfap57	G	T	4: 118,593,054	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,563,879	M339L	probably benign	Het
Dcst1	T	A	3: 89,357,803	T247S	probably benign	Het
Dnajc18	T	A	18: 35,683,319	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,249,012	T126A	probably benign	Het
Epha2	A	G	4: 141,321,705	E624G	probably damaging	Het
Erbb3	G	A	10: 128,572,448	H866Y	probably benign	Het
F13a1	C	T	13: 36,916,863		probably null	Het
Fgd3	T	A	13: 49,278,602	N392I	probably damaging	Het
Fgf7	A	T	2: 126,088,240	M98L	probably benign	Het
G2e3	T	A	12: 51,369,139	S553T	probably benign	Het
Glipr1	C	A	10: 111,993,506	E117*	probably null	Het
Gm11060	A	T	2: 105,093,783		probably benign	Het
Gm4787	A	G	12: 81,377,629	I585T	probably damaging	Het
Gm6055	A	T	14: 48,079,458		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gpt2	T	A	8: 85,519,439		probably benign	Het
Gtf2ird1	A	T	5: 134,357,831	Y345*	probably null	Het
Hmcn1	T	A	1: 150,819,449	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,726,754	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,469,569	T427I	probably benign	Het
Itpr3	A	T	17: 27,083,608	D80V	probably damaging	Het
Kif21a	G	T	15: 90,949,010	H1317N	probably benign	Het
Kif28	T	C	1: 179,698,644	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,147,071		noncoding transcript	Het
Klk11	C	T	7: 43,777,736	T148I	probably damaging	Het
Klkb1	T	A	8: 45,286,958	H99L	probably damaging	Het
Kpna6	A	C	4: 129,656,405		probably null	Het
Lama3	G	T	18: 12,552,826	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,208,471	L264*	probably null	Het
Med13	A	T	11: 86,298,847	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,537,220	M162T	probably damaging	Het
Mppe1	T	G	18: 67,228,062	E208A	probably benign	Het
Msantd2	A	C	9: 37,489,379	K19T	possibly damaging	Het
Mylk3	A	G	8: 85,364,783	V131A	probably damaging	Het
Myocd	A	T	11: 65,183,473	S609T	possibly damaging	Het
Ncbp3	G	A	11: 73,053,529		probably null	Het
Neb	T	A	2: 52,246,859	L3203F	probably damaging	Het
Notch2	C	A	3: 98,139,633	T1756K	probably benign	Het
Nphp4	A	T	4: 152,537,793	R544W	probably damaging	Het
Olfr1179	T	G	2: 88,402,412	H174P	probably damaging	Het
Olfr368	A	T	2: 37,332,566	D273V	probably damaging	Het
Olfr402	A	T	11: 74,155,919	Y255F	probably benign	Het
Parp4	T	A	14: 56,589,898	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,682,372	Q639K	probably benign	Het
Pcnx2	A	G	8: 125,851,130	V936A	probably benign	Het
Pcsk7	T	A	9: 45,918,862	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,733,007	I188T	probably benign	Het
Pgs1	A	G	11: 118,005,519	R339G	probably benign	Het
Pik3r3	A	G	4: 116,286,191	I294V	probably benign	Het
Pik3r6	A	G	11: 68,539,945	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,820,409	V442A	probably benign	Het
Ppfibp1	T	A	6: 147,030,419		probably benign	Het
Ppp3ca	C	A	3: 136,935,049	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,023,325	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,680,103	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Ptprm	T	A	17: 66,678,067	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734	D236E	probably damaging	Het
Qars	T	C	9: 108,508,931	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,999,808		probably benign	Het
Rptor	A	T	11: 119,821,640		probably benign	Het
Rtn4	T	A	11: 29,740,994	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,154,715	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630	T401M	probably benign	Het
Slc12a6	C	T	2: 112,358,525	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,584,450	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,307,701	V240D	probably damaging	Het
Snx9	G	A	17: 5,902,519		probably null	Het
Spred3	A	G	7: 29,167,824	V49A	probably damaging	Het
Tars	A	G	15: 11,390,391	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,671,147	V110A	probably benign	Het
Tfrc	T	G	16: 32,618,279	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,075,478		probably benign	Het
Txlnb	T	C	10: 17,838,969	V383A	probably damaging	Het
Utp20	C	A	10: 88,816,949	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,091,506	V397E	probably damaging	Het
Zdhhc12	G	A	2: 30,091,526	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,680,900		probably null	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
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	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
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'- GTTTCTATCGAAGAAGCTGTGGC -3'
(R):5'- ACTCAGTGCTTCTCGTCATG -3'

Sequencing Primer
(F):5'- TTCTCCAAGGAAGACCAG -3'
(R):5'- GTCATGTCTTCTTTCAATGCAGATG -3'

Posted On

2016-04-27