Incidental Mutation 'R7566:Ptbp3'
ID |
585439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptbp3
|
Ensembl Gene |
ENSMUSG00000028382 |
Gene Name |
polypyrimidine tract binding protein 3 |
Synonyms |
Rod1, 5830471K22Rik |
MMRRC Submission |
045628-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R7566 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59514280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 114
(N114K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000134879]
[ENSMUST00000140925]
[ENSMUST00000148331]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000173884]
[ENSMUST00000174586]
[ENSMUST00000174748]
|
AlphaFold |
Q8BHD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030076
AA Change: N114K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030076 Gene: ENSMUSG00000028382 AA Change: N114K
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: N142K
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099947 Gene: ENSMUSG00000028382 AA Change: N142K
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
|
SMART Domains |
Protein: ENSMUSP00000122138 Gene: ENSMUSG00000028382
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
AA Change: N111K
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122840 Gene: ENSMUSG00000028382 AA Change: N111K
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
AA Change: N111K
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134102 Gene: ENSMUSG00000028382 AA Change: N111K
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 |
possibly damaging
Transcript: ENSMUST00000173699
AA Change: N48K
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134290 Gene: ENSMUSG00000028382 AA Change: N48K
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 benign
Transcript: ENSMUST00000173884
|
SMART Domains |
Protein: ENSMUSP00000133996 Gene: ENSMUSG00000028382
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: N145K
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133612 Gene: ENSMUSG00000028382 AA Change: N145K
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
G |
1: 12,021,252 (GRCm39) |
S420R |
probably damaging |
Het |
Acat2 |
C |
T |
17: 13,166,346 (GRCm39) |
D219N |
probably damaging |
Het |
Anapc10 |
G |
A |
8: 80,446,308 (GRCm39) |
R46Q |
possibly damaging |
Het |
Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
Arhgap21 |
T |
C |
2: 20,917,102 (GRCm39) |
N91S |
probably benign |
Het |
Arhgap32 |
T |
A |
9: 32,162,018 (GRCm39) |
V323D |
probably benign |
Het |
Bcas1 |
C |
T |
2: 170,212,369 (GRCm39) |
|
probably null |
Het |
Cd109 |
C |
T |
9: 78,588,119 (GRCm39) |
P716S |
probably damaging |
Het |
Chd4 |
C |
T |
6: 125,078,866 (GRCm39) |
P267L |
possibly damaging |
Het |
Cpne7 |
G |
T |
8: 123,860,552 (GRCm39) |
V502F |
probably damaging |
Het |
Cracd |
G |
A |
5: 77,014,122 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
C |
T |
2: 156,604,657 (GRCm39) |
A921V |
probably benign |
Het |
Faap24 |
G |
T |
7: 35,092,465 (GRCm39) |
R151S |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,854,657 (GRCm39) |
S51P |
probably damaging |
Het |
Fbxl8 |
A |
G |
8: 105,994,938 (GRCm39) |
D150G |
possibly damaging |
Het |
Fut10 |
A |
G |
8: 31,749,950 (GRCm39) |
K412R |
probably benign |
Het |
G0s2 |
T |
C |
1: 192,955,076 (GRCm39) |
S3G |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,767 (GRCm39) |
Y527H |
probably benign |
Het |
Gsdmc3 |
T |
C |
15: 63,733,510 (GRCm39) |
K227R |
possibly damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,242,848 (GRCm39) |
Y354C |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,344,869 (GRCm39) |
N4685K |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,791,279 (GRCm39) |
Y717F |
probably benign |
Het |
Kcnh5 |
C |
T |
12: 75,161,166 (GRCm39) |
W247* |
probably null |
Het |
Kcnt1 |
C |
A |
2: 25,806,048 (GRCm39) |
S1212R |
probably benign |
Het |
Kirrel1 |
A |
G |
3: 86,995,791 (GRCm39) |
V381A |
probably damaging |
Het |
Loxl1 |
T |
A |
9: 58,219,481 (GRCm39) |
Q230L |
probably damaging |
Het |
Magi1 |
T |
C |
6: 93,655,308 (GRCm39) |
E1446G |
probably benign |
Het |
Man1a |
A |
G |
10: 53,795,330 (GRCm39) |
V550A |
possibly damaging |
Het |
Mgat4d |
T |
C |
8: 84,084,652 (GRCm39) |
S132P |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,549,925 (GRCm39) |
H5456L |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,391,867 (GRCm39) |
K207R |
probably damaging |
Het |
Nlrp4a |
A |
C |
7: 26,148,670 (GRCm39) |
|
probably null |
Het |
Nr6a1 |
T |
C |
2: 38,621,085 (GRCm39) |
M407V |
possibly damaging |
Het |
Or13c7b |
A |
G |
4: 43,820,711 (GRCm39) |
S217P |
probably damaging |
Het |
Or2b2b |
T |
G |
13: 21,858,737 (GRCm39) |
I126L |
possibly damaging |
Het |
Or2z2 |
G |
T |
11: 58,346,489 (GRCm39) |
F95L |
probably benign |
Het |
Or6c206 |
T |
C |
10: 129,097,469 (GRCm39) |
I213T |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,881,626 (GRCm39) |
|
probably benign |
Het |
Ovol3 |
G |
T |
7: 29,933,791 (GRCm39) |
F110L |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,549,821 (GRCm39) |
T724A |
probably benign |
Het |
Phtf2 |
G |
T |
5: 20,970,799 (GRCm39) |
T653N |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,688,663 (GRCm39) |
|
probably null |
Het |
Prkce |
A |
T |
17: 86,800,757 (GRCm39) |
E391V |
probably benign |
Het |
Prob1 |
A |
G |
18: 35,788,038 (GRCm39) |
V72A |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,084,402 (GRCm39) |
P289Q |
probably benign |
Het |
Rho |
T |
A |
6: 115,909,135 (GRCm39) |
L57H |
probably damaging |
Het |
Slc44a5 |
A |
C |
3: 153,975,626 (GRCm39) |
D679A |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,407,239 (GRCm39) |
D898V |
probably damaging |
Het |
Spag16 |
C |
T |
1: 69,909,487 (GRCm39) |
R195C |
probably damaging |
Het |
Tmprss11a |
T |
G |
5: 86,591,993 (GRCm39) |
D60A |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,565,293 (GRCm39) |
R28311S |
probably damaging |
Het |
Wfikkn1 |
T |
C |
17: 26,097,352 (GRCm39) |
D324G |
probably damaging |
Het |
Zan |
A |
C |
5: 137,410,845 (GRCm39) |
|
probably null |
Het |
Zfp945 |
A |
T |
17: 23,070,727 (GRCm39) |
C412S |
possibly 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 |
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 |
|
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'- GCACAGCCCAGTGTCATTTC -3'
(R):5'- CTAGGGAACAATGTCAAGTATACTGAG -3'
Sequencing Primer
(F):5'- AGCCCAGTGTCATTTCTAACAC -3'
(R):5'- TACTGAGAAAACACAAGTTTAGACC -3'
|
Posted On |
2019-10-17 |