Incidental Mutation 'R5573:Ptbp3'
ID |
435770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptbp3
|
Ensembl Gene |
ENSMUSG00000028382 |
Gene Name |
polypyrimidine tract binding protein 3 |
Synonyms |
Rod1, 5830471K22Rik |
MMRRC Submission |
043128-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R5573 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59485626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 95
(V95A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133886
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000148331]
[ENSMUST00000172471]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000174586]
[ENSMUST00000174748]
|
AlphaFold |
Q8BHD7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030076
AA Change: V333A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030076 Gene: ENSMUSG00000028382 AA Change: V333A
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 |
possibly damaging
Transcript: ENSMUST00000102883
AA Change: V361A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099947 Gene: ENSMUSG00000028382 AA Change: V361A
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: V330A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122840 Gene: ENSMUSG00000028382 AA Change: V330A
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: V95A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133886 Gene: ENSMUSG00000028382 AA Change: V95A
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: V330A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134102 Gene: ENSMUSG00000028382 AA Change: V330A
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: V267A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134290 Gene: ENSMUSG00000028382 AA Change: V267A
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 |
possibly damaging
Transcript: ENSMUST00000174586
AA Change: V364A
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133612 Gene: ENSMUSG00000028382 AA Change: V364A
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: 98.3%
- 20x: 94.9%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
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 |
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'- CCTATTACAGCACTAGTTATGCTTC -3'
(R):5'- TGAGTCCAGTTACTCTGTGGAG -3'
Sequencing Primer
(F):5'- CAGCACTAGTTATGCTTCTACACAG -3'
(R):5'- TGTGGAGCACAGTATGAATGG -3'
|
Posted On |
2016-10-24 |