Incidental Mutation 'R0892:Mapre2'
| ID |
83549 |
| 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 |
039055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R0892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
23885390-24026918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23991200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 189
(N189S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025127]
[ENSMUST00000115830]
[ENSMUST00000118826]
[ENSMUST00000155708]
[ENSMUST00000165387]
[ENSMUST00000170802]
|
| AlphaFold |
Q8R001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025127
AA Change: N198S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: N198S
| 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 benign
Transcript: ENSMUST00000115830
AA Change: N189S
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: N189S
| 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 benign
Transcript: ENSMUST00000118826
AA Change: N156S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114113
Gene: ENSMUSG00000024277
AA Change: N156S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155708
AA Change: N156S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118807
Gene: ENSMUSG00000024277
AA Change: N156S
| 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 |
probably benign
Transcript: ENSMUST00000170802
AA Change: N156S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: N156S
| 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: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,597,800 (GRCm39) |
R57G |
probably benign |
Het |
| Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
| Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
| Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,562,881 (GRCm39) |
V28D |
probably damaging |
Het |
| Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,429,033 (GRCm39) |
|
probably null |
Het |
| Sbsn |
A |
T |
7: 30,454,244 (GRCm39) |
Q50L |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,644,597 (GRCm39) |
L34P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
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 |
|
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'- TGAAAGGGCGTTTCCAAGACAACC -3'
(R):5'- CAGCTACAGAGACAGCATGTACGG -3'
Sequencing Primer
(F):5'- GACAACCTGGATTTTATTCAGTGG -3'
(R):5'- GTGCAGATCATTAGACTCATGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation