Incidental Mutation 'R6630:Mapre3'
| ID |
525040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapre3
|
| Ensembl Gene |
ENSMUSG00000029166 |
| Gene Name |
microtubule-associated protein, RP/EB family, member 3 |
| Synonyms |
EB3 |
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30971985-31023450 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31019886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 56
(V56F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031058]
[ENSMUST00000200692]
[ENSMUST00000202501]
|
| AlphaFold |
Q6PER3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031058
AA Change: V56F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: V56F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
4.1e-10 |
PFAM |
|
low complexity region
|
201 |
214 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
219 |
257 |
1.4e-17 |
PFAM |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200692
AA Change: V56F
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: V56F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
2.8e-12 |
PFAM |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
204 |
242 |
1.6e-21 |
PFAM |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202256
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202501
AA Change: V56F
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166
AA Change: V56F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
6.9e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
probably benign |
Het |
|
| Other mutations in Mapre3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Mapre3
|
APN |
5 |
31,022,240 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01391:Mapre3
|
APN |
5 |
31,022,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02650:Mapre3
|
APN |
5 |
31,022,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
capen
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1272:Mapre3
|
UTSW |
5 |
31,019,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Mapre3
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Mapre3
|
UTSW |
5 |
31,019,151 (GRCm39) |
splice site |
probably benign |
|
|
R1524:Mapre3
|
UTSW |
5 |
31,019,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2006:Mapre3
|
UTSW |
5 |
31,019,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Mapre3
|
UTSW |
5 |
31,020,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5864:Mapre3
|
UTSW |
5 |
31,020,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Mapre3
|
UTSW |
5 |
31,019,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Mapre3
|
UTSW |
5 |
31,020,719 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9182:Mapre3
|
UTSW |
5 |
31,022,016 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCTTGTAAAGGCAAGGGG -3'
(R):5'- TGTACAGCCTTCCCTTTGGG -3'
Sequencing Primer
(F):5'- CTTGTAAAGGCAAGGGGAATTTAATC -3'
(R):5'- AAGGAGGCCTTGTCACCCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation