Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Map2'

395684

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

042629-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66438796 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1759 (D1759V)

Ref Sequence

ENSEMBL: ENSMUSP00000109646 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024639
AA Change: D398V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222
AA Change: D398V

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: D398V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222
AA Change: D398V

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

noncoding transcript
Transcript: ENSMUST00000083760

Predicted Effect

probably damaging
Transcript: ENSMUST00000114012
AA Change: D397V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222
AA Change: D397V

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: D1759V

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

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: D1759V

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: D398V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222
AA Change: D398V

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

possibly damaging
Transcript: ENSMUST00000114017
AA Change: D429V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222
AA Change: D429V

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

possibly damaging
Transcript: ENSMUST00000114018
AA Change: D429V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222
AA Change: D429V

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: ENSMUST00000151423

Predicted Effect

probably benign
Transcript: ENSMUST00000172486

SMART Domains

Protein: ENSMUSP00000134187
Gene: ENSMUSG00000015222

Domain	Start	End	E-Value	Type
Pfam:Tubulin-binding	12	41	2.5e-17	PFAM
low complexity region	65	81	N/A	INTRINSIC

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

Meta Mutation Damage Score

0.1326

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

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
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	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
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
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'- GGCAATGAACCAGTCATGTTTC -3'
(R):5'- TGACATCCTCAGCCAAAGTGG -3'

Sequencing Primer
(F):5'- TTAGTAACCCAGCATTACTCCTAG -3'
(R):5'- TGGCAAGCTGAGGGGATTC -3'

Posted On

2016-06-21