Incidental Mutation 'R1305:Map2'
| ID | 157766 |
|---|
| 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 |
039371-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.506)
|
|---|
| Stock # | R1305 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 1 |
|---|
| Chromosomal Location | 66175273-66442583 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 66425395 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Isoleucine to Asparagine
at position 1648
(I1648N)
|
|---|
| 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: I287N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222
AA Change: I287N
| 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: I287N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222
AA Change: I287N
| 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: ENSMUST00000114012
AA Change: I286N
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222
AA Change: I286N
| 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: I1648N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: I1648N
| 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: I287N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222
AA Change: I287N
| 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: I287N
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222
AA Change: I287N
| 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: I287N
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222
AA Change: I287N
| 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 damaging
Transcript: ENSMUST00000172886
AA Change: I217N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000133446
Gene: ENSMUSG00000015222
AA Change: I217N
| 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 damaging
Transcript: ENSMUST00000173778
AA Change: I262N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134651
Gene: ENSMUSG00000015222
AA Change: I262N
| 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 |
possibly damaging
Transcript: ENSMUST00000173800
AA Change: I160N
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134518
Gene: ENSMUSG00000015222
AA Change: I160N
| 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: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
|---|
| Validation Efficiency |
|
|---|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,749,184 |
V306I |
probably damaging |
Het |
| Enc1 |
T |
C |
13: 97,246,700 |
Y573H |
possibly damaging |
Het |
| Gm13757 |
A |
T |
2: 88,446,302 |
L212* |
probably null |
Het |
| Gm9869 |
T |
C |
9: 60,821,886 |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,683,377 |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,606,253 |
T197M |
possibly damaging |
Het |
| Kcnj4 |
A |
T |
15: 79,484,819 |
V320E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,995,465 |
M435L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,615,446 |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,590,235 |
F466L |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 56,115,535 |
C119R |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,753,027 |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,768,862 |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,696,907 |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,745,197 |
W86L |
probably damaging |
Het |
| Olfr1353 |
T |
C |
10: 78,970,099 |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 127,306,410 |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,783,720 |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 192,116,346 |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,021,039 |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,410,082 |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,378,043 |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 21,260,263 |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,060,894 |
T230A |
possibly damaging |
Het |
| Zfp945 |
T |
C |
17: 22,852,386 |
K180E |
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 |
|
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 |
|
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 |
|
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'- GGTCAGAACCAATTCGCAGAGCAG -3'
(R):5'- ATGAATGGTGGTGACCCATGACCC -3'
Sequencing Primer
(F):5'- AGGAAAAAGTGGCACCTCC -3'
(R):5'- AGTGGGATTGCTCATCTGATACC -3'
|
|---|
| Posted On | 2014-02-18 |
|---|
