Incidental Mutation 'R5575:Ptbp2'
| ID |
484536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptbp2
|
| Ensembl Gene |
ENSMUSG00000028134 |
| Gene Name |
polypyrimidine tract binding protein 2 |
| Synonyms |
brPTB |
| MMRRC Submission |
043130-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
119512391-119578115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119514438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 463
(P463L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029780]
[ENSMUST00000195902]
[ENSMUST00000197387]
[ENSMUST00000197833]
[ENSMUST00000200097]
|
| AlphaFold |
Q91Z31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029780
AA Change: P463L
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: P463L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
60 |
129 |
3.8e-6 |
SMART |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
RRM
|
182 |
251 |
1.22e-4 |
SMART |
|
low complexity region
|
285 |
295 |
N/A |
INTRINSIC |
|
RRM
|
339 |
408 |
1.07e-9 |
SMART |
|
RRM
|
456 |
526 |
1.99e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195902
|
| SMART Domains |
Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
1 |
48 |
7e-25 |
BLAST |
|
PDB:1SJR|A
|
1 |
48 |
3e-27 |
PDB |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
109 |
154 |
1.9e-4 |
PFAM |
|
Pfam:RRM_6
|
109 |
155 |
1.4e-6 |
PFAM |
|
Pfam:RRM_5
|
124 |
155 |
2.6e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197833
|
| SMART Domains |
Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
60 |
129 |
1.7e-8 |
SMART |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
RRM
|
182 |
251 |
5.2e-7 |
SMART |
|
low complexity region
|
285 |
295 |
N/A |
INTRINSIC |
|
PDB:2MJU|A
|
325 |
349 |
4e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198733
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200097
AA Change: P463L
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: P463L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
60 |
129 |
3.8e-6 |
SMART |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
RRM
|
182 |
251 |
1.22e-4 |
SMART |
|
low complexity region
|
285 |
295 |
N/A |
INTRINSIC |
|
RRM
|
339 |
408 |
1.07e-9 |
SMART |
|
RRM
|
456 |
525 |
8.08e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.2463 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (57/59) |
| 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 to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with premature neurogenesis and abnormal neural stem cell polarity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,916,195 (GRCm39) |
|
probably null |
Het |
| Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
| Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
| Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
| Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,787 (GRCm39) |
Q675* |
probably null |
Het |
| Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,479 (GRCm39) |
V16D |
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,047,804 (GRCm39) |
L18P |
possibly damaging |
Het |
| Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
| Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
| Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,378 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
| Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
probably benign |
Het |
|
| Other mutations in Ptbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Ptbp2
|
APN |
3 |
119,541,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Ptbp2
|
APN |
3 |
119,541,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01940:Ptbp2
|
APN |
3 |
119,519,764 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02094:Ptbp2
|
APN |
3 |
119,546,589 (GRCm39) |
splice site |
probably benign |
|
|
IGL02374:Ptbp2
|
APN |
3 |
119,514,342 (GRCm39) |
splice site |
probably benign |
|
|
IGL02523:Ptbp2
|
APN |
3 |
119,534,136 (GRCm39) |
nonsense |
probably null |
|
|
IGL02879:Ptbp2
|
APN |
3 |
119,534,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Ptbp2
|
APN |
3 |
119,514,074 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03153:Ptbp2
|
APN |
3 |
119,545,593 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03391:Ptbp2
|
APN |
3 |
119,514,031 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Ptbp2
|
UTSW |
3 |
119,514,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Ptbp2
|
UTSW |
3 |
119,514,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0091:Ptbp2
|
UTSW |
3 |
119,514,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Ptbp2
|
UTSW |
3 |
119,517,847 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Ptbp2
|
UTSW |
3 |
119,514,613 (GRCm39) |
missense |
probably benign |
|
|
R0722:Ptbp2
|
UTSW |
3 |
119,514,570 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1573:Ptbp2
|
UTSW |
3 |
119,546,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Ptbp2
|
UTSW |
3 |
119,555,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3606:Ptbp2
|
UTSW |
3 |
119,541,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Ptbp2
|
UTSW |
3 |
119,546,613 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5575:Ptbp2
|
UTSW |
3 |
119,514,432 (GRCm39) |
splice site |
probably null |
|
|
R5655:Ptbp2
|
UTSW |
3 |
119,517,806 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5836:Ptbp2
|
UTSW |
3 |
119,519,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6290:Ptbp2
|
UTSW |
3 |
119,517,769 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6364:Ptbp2
|
UTSW |
3 |
119,534,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6398:Ptbp2
|
UTSW |
3 |
119,514,484 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6574:Ptbp2
|
UTSW |
3 |
119,541,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7037:Ptbp2
|
UTSW |
3 |
119,545,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Ptbp2
|
UTSW |
3 |
119,546,761 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7718:Ptbp2
|
UTSW |
3 |
119,514,637 (GRCm39) |
missense |
probably null |
1.00 |
|
R8182:Ptbp2
|
UTSW |
3 |
119,534,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8443:Ptbp2
|
UTSW |
3 |
119,541,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Ptbp2
|
UTSW |
3 |
119,541,258 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9164:Ptbp2
|
UTSW |
3 |
119,546,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGATTTTCACCCATTTGAGG -3'
(R):5'- TCTTAATGGGCAGAAGATGTATGG -3'
Sequencing Primer
(F):5'- AAGACAAAGAAGCTTGCTTACTG -3'
(R):5'- TCGAGAGGGACTTGATGA -3'
|
| Posted On |
2017-08-08 |
Incidental Mutation