Incidental Mutation 'R6350:Ptbp3'
| ID |
514147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptbp3
|
| Ensembl Gene |
ENSMUSG00000028382 |
| Gene Name |
polypyrimidine tract binding protein 3 |
| Synonyms |
Rod1, 5830471K22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R6350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59482624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 386
(D386E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000148331]
[ENSMUST00000172471]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000174586]
[ENSMUST00000174748]
|
| AlphaFold |
Q8BHD7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030076
AA Change: D355E
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: D355E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
31 |
100 |
2.24e-3 |
SMART |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
RRM
|
154 |
223 |
2.51e-6 |
SMART |
|
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
|
RRM
|
330 |
399 |
2.13e-9 |
SMART |
|
RRM
|
447 |
517 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102883
AA Change: D383E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: D383E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
59 |
128 |
2.24e-3 |
SMART |
|
low complexity region
|
143 |
158 |
N/A |
INTRINSIC |
|
RRM
|
182 |
251 |
2.51e-6 |
SMART |
|
low complexity region
|
305 |
321 |
N/A |
INTRINSIC |
|
RRM
|
358 |
427 |
2.13e-9 |
SMART |
|
RRM
|
475 |
545 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148331
AA Change: D352E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: D352E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
97 |
2.24e-3 |
SMART |
|
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
|
RRM
|
151 |
220 |
2.51e-6 |
SMART |
|
low complexity region
|
274 |
290 |
N/A |
INTRINSIC |
|
RRM
|
327 |
396 |
2.13e-9 |
SMART |
|
RRM
|
444 |
514 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172471
AA Change: D117E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133886
Gene: ENSMUSG00000028382
AA Change: D117E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1SJR|A
|
1 |
34 |
2e-11 |
PDB |
|
Blast:RRM_2
|
1 |
37 |
6e-9 |
BLAST |
|
low complexity region
|
44 |
64 |
N/A |
INTRINSIC |
|
RRM
|
92 |
161 |
2.13e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172768
AA Change: D352E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: D352E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
97 |
2.24e-3 |
SMART |
|
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
|
RRM
|
151 |
220 |
2.51e-6 |
SMART |
|
low complexity region
|
274 |
290 |
N/A |
INTRINSIC |
|
RRM
|
327 |
396 |
2.13e-9 |
SMART |
|
RRM
|
444 |
514 |
1.29e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173268
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173699
AA Change: D289E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: D289E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CQ1|A
|
2 |
44 |
7e-18 |
PDB |
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
RRM
|
88 |
157 |
2.51e-6 |
SMART |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
RRM
|
264 |
333 |
2.13e-9 |
SMART |
|
RRM
|
381 |
451 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174586
AA Change: D386E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: D386E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
62 |
131 |
2.24e-3 |
SMART |
|
low complexity region
|
146 |
161 |
N/A |
INTRINSIC |
|
RRM
|
185 |
254 |
2.51e-6 |
SMART |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
RRM
|
361 |
430 |
2.13e-9 |
SMART |
|
RRM
|
478 |
548 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174748
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
| Other mutations in Ptbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00932:Ptbp3
|
APN |
4 |
59,477,228 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03035:Ptbp3
|
APN |
4 |
59,477,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Ptbp3
|
APN |
4 |
59,501,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03257:Ptbp3
|
APN |
4 |
59,493,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL03279:Ptbp3
|
APN |
4 |
59,476,937 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0557:Ptbp3
|
UTSW |
4 |
59,517,684 (GRCm39) |
nonsense |
probably null |
|
|
R1741:Ptbp3
|
UTSW |
4 |
59,482,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Ptbp3
|
UTSW |
4 |
59,517,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Ptbp3
|
UTSW |
4 |
59,517,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Ptbp3
|
UTSW |
4 |
59,494,615 (GRCm39) |
splice site |
probably benign |
|
|
R3798:Ptbp3
|
UTSW |
4 |
59,546,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4793:Ptbp3
|
UTSW |
4 |
59,514,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4869:Ptbp3
|
UTSW |
4 |
59,524,443 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5573:Ptbp3
|
UTSW |
4 |
59,485,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Ptbp3
|
UTSW |
4 |
59,493,311 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6659:Ptbp3
|
UTSW |
4 |
59,517,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Ptbp3
|
UTSW |
4 |
59,514,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7523:Ptbp3
|
UTSW |
4 |
59,546,159 (GRCm39) |
missense |
probably benign |
|
|
R7566:Ptbp3
|
UTSW |
4 |
59,514,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8807:Ptbp3
|
UTSW |
4 |
59,517,584 (GRCm39) |
missense |
probably benign |
|
|
YA93:Ptbp3
|
UTSW |
4 |
59,524,413 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCAGCAATGACAACGTG -3'
(R):5'- GGGGCATATTCTGAATTCAATGTG -3'
Sequencing Primer
(F):5'- CTGTCAGCAATGACAACGTGTTATG -3'
(R):5'- CAATGTGTTTATGAGATATCTGGGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation