Incidental Mutation 'R3798:Ptbp3'
| ID |
272834 |
| 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 # |
R3798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59546166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 9
(I9V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000134879]
[ENSMUST00000140925]
[ENSMUST00000148331]
[ENSMUST00000172768]
[ENSMUST00000174586]
[ENSMUST00000173884]
[ENSMUST00000174748]
[ENSMUST00000173699]
|
| AlphaFold |
Q8BHD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030076
|
| SMART Domains |
Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
| 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 |
noncoding transcript
Transcript: ENSMUST00000052502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102883
AA Change: I9V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: I9V
| 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 benign
Transcript: ENSMUST00000134879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140925
AA Change: I11V
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122138
Gene: ENSMUSG00000028382
AA Change: I11V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qm9a2
|
53 |
99 |
2e-4 |
SMART |
|
PDB:2CQ1|A
|
54 |
101 |
8e-19 |
PDB |
|
Blast:RRM
|
64 |
100 |
4e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148331
|
| SMART Domains |
Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
| 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 benign
Transcript: ENSMUST00000172768
|
| SMART Domains |
Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
| 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 benign
Transcript: ENSMUST00000174586
AA Change: I9V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: I9V
| 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 |
unknown
Transcript: ENSMUST00000173884
AA Change: I9V
|
| SMART Domains |
Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382
AA Change: I9V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
28 |
N/A |
INTRINSIC |
|
RRM
|
52 |
121 |
2.51e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174748
AA Change: I9V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173699
|
| SMART Domains |
Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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 |
|---|
| Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
| Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
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 |
|
|
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 |
|
R6350:Ptbp3
|
UTSW |
4 |
59,482,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCCACAAGCCTACTTATTTTGG -3'
(R):5'- AAGCACAACTGTTCTTTCCTACAC -3'
Sequencing Primer
(F):5'- CTGGTGGGGAAATGTCAA -3'
(R):5'- ACTGTTCTTTCCTACACACTAGAGAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation