Incidental Mutation 'R6620:Mapre2'
| ID |
528150 |
| 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 |
044743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R6620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
23885390-24026918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23991002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| 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: V132A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: V132A
| 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: V123A
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: V123A
| 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: V90A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000114113
Gene: ENSMUSG00000024277
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
17 |
116 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155708
AA Change: V90A
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118807
Gene: ENSMUSG00000024277
AA Change: V90A
| 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: V90A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: V90A
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
| Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
| Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
| Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
| Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
| Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
| Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
| Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
| Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
| Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
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 |
|
|
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'- GGGTGGTCAATAACTTCAGGC -3'
(R):5'- GATCTGTTCACCAGGGTCAG -3'
Sequencing Primer
(F):5'- CACTATCTGATGGCTACAGAGGATC -3'
(R):5'- CAGGGGGAGGAATTGCATCTTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation