Incidental Mutation 'R9490:Mapre2'
| ID |
716906 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R9490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
23885390-24026918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23986764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 101
(K101E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025127]
[ENSMUST00000115830]
[ENSMUST00000118826]
[ENSMUST00000155708]
[ENSMUST00000165387]
[ENSMUST00000170802]
|
| AlphaFold |
Q8R001 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025127
AA Change: K101E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: K101E
| 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 |
probably damaging
Transcript: ENSMUST00000115830
AA Change: K92E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: K92E
| 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 |
possibly damaging
Transcript: ENSMUST00000118826
AA Change: K59E
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114113
Gene: ENSMUSG00000024277
AA Change: K59E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155708
AA Change: K59E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118807
Gene: ENSMUSG00000024277
AA Change: K59E
| 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 |
probably benign
Transcript: ENSMUST00000165387
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170802
AA Change: K59E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: K59E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,834,601 (GRCm39) |
D167G |
probably benign |
Het |
| Arhgef37 |
G |
T |
18: 61,641,907 (GRCm39) |
P154Q |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,312,486 (GRCm39) |
S320C |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,505,901 (GRCm39) |
T21K |
unknown |
Het |
| Ctcfl |
A |
T |
2: 172,960,548 (GRCm39) |
Y12N |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,390,727 (GRCm39) |
E13G |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,871,092 (GRCm39) |
Y443H |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,589,582 (GRCm39) |
T492S |
possibly damaging |
Het |
| Edil3 |
G |
A |
13: 89,347,591 (GRCm39) |
C382Y |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,555,416 (GRCm39) |
K1142E |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,815 (GRCm39) |
T275S |
possibly damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,060 (GRCm39) |
V707A |
possibly damaging |
Het |
| Gm7298 |
G |
A |
6: 121,751,083 (GRCm39) |
R720H |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,311,518 (GRCm39) |
T1253S |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,788,203 (GRCm39) |
N14S |
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,519,184 (GRCm39) |
V136I |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,501 (GRCm39) |
S134G |
probably benign |
Het |
| Map3k5 |
T |
C |
10: 20,007,797 (GRCm39) |
S1209P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,568,149 (GRCm39) |
R1457* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,425,497 (GRCm39) |
V4714A |
probably benign |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,628,525 (GRCm39) |
F170S |
probably damaging |
Het |
| Pip5kl1 |
C |
T |
2: 32,466,667 (GRCm39) |
P12L |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,719,606 (GRCm39) |
N253I |
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,053,227 (GRCm39) |
P263S |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,354,065 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
C |
T |
19: 4,247,547 (GRCm39) |
G200R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,350 (GRCm39) |
T1354A |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,040 (GRCm39) |
D111G |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,284 (GRCm39) |
T122S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a2 |
C |
G |
18: 61,331,881 (GRCm39) |
V517L |
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,961,641 (GRCm39) |
K195R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,928,867 (GRCm39) |
D343V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,137,227 (GRCm39) |
T910A |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,245,360 (GRCm39) |
V1457A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,078,716 (GRCm39) |
V862A |
probably benign |
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 |
|
|
R0005:Mapre2
|
UTSW |
18 |
23,986,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TATAAGGCGCATGTGTGGAG -3'
(R):5'- CATGGATGTGTTCTTAGACTTGATC -3'
Sequencing Primer
(F):5'- AGGATCTGTGCTCTGTATCACG -3'
(R):5'- GATGGCTCTCAGTCACGTGTAAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation