Incidental Mutation 'IGL03118:Ptbp3'
| ID |
409885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.322)
|
| Stock # |
IGL03118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59501470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 149
(A149V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000134879]
[ENSMUST00000148331]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000173884]
[ENSMUST00000174586]
[ENSMUST00000174748]
|
| AlphaFold |
Q8BHD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030076
AA Change: A118V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: A118V
| 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 benign
Transcript: ENSMUST00000102883
AA Change: A146V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: A146V
| 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 |
unknown
Transcript: ENSMUST00000134879
AA Change: P5S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148331
AA Change: A115V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: A115V
| 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: ENSMUST00000151313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172768
AA Change: A115V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: A115V
| 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: ENSMUST00000173699
AA Change: A52V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: A52V
| 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 |
unknown
Transcript: ENSMUST00000173884
AA Change: A16V
|
| SMART Domains |
Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382
AA Change: A16V
| 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: ENSMUST00000174586
AA Change: A149V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: A149V
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
| B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
| Bpifb5 |
C |
T |
2: 154,078,673 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
| Cyp4a12b |
G |
T |
4: 115,290,173 (GRCm39) |
R242I |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
| Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
| Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
| Il17rd |
A |
G |
14: 26,815,352 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
| Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
| Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
| Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
| Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
| Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
| Pold1 |
T |
A |
7: 44,188,824 (GRCm39) |
I447F |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
| Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
| Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
| Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
| Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
| Septin3 |
G |
A |
15: 82,168,715 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
| Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
| Zfp865 |
T |
C |
7: 5,037,644 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation