Incidental Mutation 'R6640:Raver2'
| ID |
525710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raver2
|
| Ensembl Gene |
ENSMUSG00000035275 |
| Gene Name |
ribonucleoprotein, PTB-binding 2 |
| Synonyms |
A430091O22Rik |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
100926235-101009567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100988500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 371
(P371L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038463]
[ENSMUST00000106955]
|
| AlphaFold |
Q7TPD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038463
AA Change: P371L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: P371L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
RRM
|
59 |
125 |
8.2e-11 |
SMART |
|
RRM
|
132 |
205 |
1.67e-11 |
SMART |
|
RRM
|
221 |
294 |
2.12e-4 |
SMART |
|
low complexity region
|
362 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106955
AA Change: P371L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: P371L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
RRM
|
59 |
125 |
8.2e-11 |
SMART |
|
RRM
|
132 |
205 |
1.67e-11 |
SMART |
|
RRM
|
221 |
294 |
2.12e-4 |
SMART |
|
low complexity region
|
362 |
379 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2555 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
Het |
|
| Other mutations in Raver2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Raver2
|
APN |
4 |
100,960,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00778:Raver2
|
APN |
4 |
100,953,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01363:Raver2
|
APN |
4 |
100,977,780 (GRCm39) |
splice site |
probably benign |
|
|
IGL02631:Raver2
|
APN |
4 |
100,953,499 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0071:Raver2
|
UTSW |
4 |
100,977,642 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Raver2
|
UTSW |
4 |
100,977,642 (GRCm39) |
splice site |
probably benign |
|
|
R0792:Raver2
|
UTSW |
4 |
100,960,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Raver2
|
UTSW |
4 |
100,993,349 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2044:Raver2
|
UTSW |
4 |
100,960,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Raver2
|
UTSW |
4 |
100,960,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Raver2
|
UTSW |
4 |
100,959,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Raver2
|
UTSW |
4 |
100,959,889 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5557:Raver2
|
UTSW |
4 |
100,993,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6190:Raver2
|
UTSW |
4 |
100,990,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6248:Raver2
|
UTSW |
4 |
100,991,320 (GRCm39) |
splice site |
probably null |
|
|
R6449:Raver2
|
UTSW |
4 |
100,990,869 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6852:Raver2
|
UTSW |
4 |
100,990,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7196:Raver2
|
UTSW |
4 |
100,960,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Raver2
|
UTSW |
4 |
100,959,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Raver2
|
UTSW |
4 |
100,964,410 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8025:Raver2
|
UTSW |
4 |
100,960,162 (GRCm39) |
nonsense |
probably null |
|
|
R8843:Raver2
|
UTSW |
4 |
100,994,942 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8898:Raver2
|
UTSW |
4 |
100,964,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9290:Raver2
|
UTSW |
4 |
100,977,387 (GRCm39) |
intron |
probably benign |
|
|
RF017:Raver2
|
UTSW |
4 |
100,960,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCAGGATCGAATTGCCAGG -3'
(R):5'- GCTCAATTAACTTCTTGATGAGGTC -3'
Sequencing Primer
(F):5'- TCGAATTGCCAGGAGATGCTG -3'
(R):5'- AGGTCTGGCACACTGGTAAATTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation