Incidental Mutation 'R0005:Mapre2'
| ID |
201311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapre2
|
| Ensembl Gene |
ENSMUSG00000024277 |
| Gene Name |
microtubule-associated protein, RP/EB family, member 2 |
| Synonyms |
C820009F03Rik, D18Abb1e, RP1, EB2 |
| MMRRC Submission |
038301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R0005 (G1)
|
| Quality Score |
42 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
23885390-24026918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23986750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 54
(G54D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025127]
[ENSMUST00000115830]
[ENSMUST00000118826]
[ENSMUST00000155708]
[ENSMUST00000165387]
[ENSMUST00000170802]
|
| AlphaFold |
Q8R001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025127
AA Change: G96D
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: G96D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
56 |
156 |
5.5e-9 |
PFAM |
|
low complexity region
|
199 |
235 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
260 |
298 |
9.2e-19 |
PFAM |
|
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115830
AA Change: G87D
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: G87D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
50 |
149 |
1.2e-12 |
PFAM |
|
low complexity region
|
190 |
226 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
250 |
289 |
5.4e-18 |
PFAM |
|
low complexity region
|
291 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118826
AA Change: G54D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114113
Gene: ENSMUSG00000024277
AA Change: G54D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155708
AA Change: G54D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118807
Gene: ENSMUSG00000024277
AA Change: G54D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
1.9e-12 |
PFAM |
|
low complexity region
|
157 |
193 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
217 |
256 |
5.4e-18 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000165387
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170802
AA Change: G54D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: G54D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
2.3e-12 |
PFAM |
|
low complexity region
|
157 |
193 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
217 |
256 |
6.1e-18 |
PFAM |
|
low complexity region
|
258 |
283 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8473 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
| Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
| Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
| Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
| Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
| Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
| Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
| Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly damaging |
Het |
|
| Other mutations in Mapre2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02557:Mapre2
|
APN |
18 |
23,966,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02632:Mapre2
|
APN |
18 |
23,991,217 (GRCm39) |
missense |
probably benign |
|
|
R0127:Mapre2
|
UTSW |
18 |
23,937,232 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0892:Mapre2
|
UTSW |
18 |
23,991,200 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1244:Mapre2
|
UTSW |
18 |
23,986,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1631:Mapre2
|
UTSW |
18 |
23,966,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Mapre2
|
UTSW |
18 |
23,986,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4786:Mapre2
|
UTSW |
18 |
24,011,016 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4912:Mapre2
|
UTSW |
18 |
23,965,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Mapre2
|
UTSW |
18 |
23,991,190 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5637:Mapre2
|
UTSW |
18 |
23,886,919 (GRCm39) |
intron |
probably benign |
|
|
R6620:Mapre2
|
UTSW |
18 |
23,991,002 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7250:Mapre2
|
UTSW |
18 |
23,991,119 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7736:Mapre2
|
UTSW |
18 |
24,011,012 (GRCm39) |
missense |
probably benign |
|
|
R8157:Mapre2
|
UTSW |
18 |
23,991,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8698:Mapre2
|
UTSW |
18 |
24,011,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8742:Mapre2
|
UTSW |
18 |
24,016,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Mapre2
|
UTSW |
18 |
23,886,888 (GRCm39) |
intron |
probably benign |
|
|
R9150:Mapre2
|
UTSW |
18 |
23,991,208 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9234:Mapre2
|
UTSW |
18 |
23,937,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9490:Mapre2
|
UTSW |
18 |
23,986,764 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9558:Mapre2
|
UTSW |
18 |
23,991,195 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9563:Mapre2
|
UTSW |
18 |
24,023,981 (GRCm39) |
missense |
unknown |
|
|
R9574:Mapre2
|
UTSW |
18 |
23,965,993 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9598:Mapre2
|
UTSW |
18 |
24,016,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTTGAGACATGGCCTCTTCCC -3'
(R):5'- ATGCTAAGAAGTTTGTCAAATGGCTGC -3'
Sequencing Primer
(F):5'- CAACCCGTGCTGTCCAGAG -3'
(R):5'- agttcagttcccagcacc -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation