Incidental Mutation 'R8071:Ptpn23'
| ID |
628928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
067506-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110217268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 863
(P863T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040021]
[ENSMUST00000098350]
|
| AlphaFold |
Q6PB44 |
| PDB Structure |
MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040021
AA Change: P863T
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: P863T
| Domain | Start | End | E-Value | Type |
|---|
|
BRO1
|
8 |
384 |
5.94e-159 |
SMART |
|
Pfam:ALIX_LYPXL_bnd
|
416 |
704 |
1.4e-64 |
PFAM |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
928 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
929 |
942 |
8.2e-5 |
PROSPERO |
|
internal_repeat_1
|
943 |
956 |
8.2e-5 |
PROSPERO |
|
low complexity region
|
977 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1088 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1128 |
1160 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1200 |
N/A |
INTRINSIC |
|
low complexity region
|
1225 |
1235 |
N/A |
INTRINSIC |
|
PTPc
|
1246 |
1510 |
1.28e-92 |
SMART |
|
low complexity region
|
1576 |
1587 |
N/A |
INTRINSIC |
|
low complexity region
|
1589 |
1643 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
1644 |
1673 |
9e-8 |
BLAST |
|
low complexity region
|
1675 |
1689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098350
|
| SMART Domains |
Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
165 |
N/A |
INTRINSIC |
|
Pfam:Patched
|
279 |
504 |
4.7e-24 |
PFAM |
|
Pfam:Sterol-sensing
|
308 |
459 |
7.6e-54 |
PFAM |
|
transmembrane domain
|
515 |
534 |
N/A |
INTRINSIC |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
751 |
N/A |
INTRINSIC |
|
WD40
|
765 |
802 |
1.79e-1 |
SMART |
|
low complexity region
|
847 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
WD40
|
953 |
990 |
9.86e1 |
SMART |
|
low complexity region
|
1050 |
1060 |
N/A |
INTRINSIC |
|
WD40
|
1062 |
1102 |
4.18e-2 |
SMART |
|
WD40
|
1105 |
1143 |
5.64e-8 |
SMART |
|
WD40
|
1147 |
1183 |
2.4e-1 |
SMART |
|
WD40
|
1186 |
1223 |
2.56e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200531
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
PHENOTYPE: Embryos homozygous for a gene trap allele are significantly growth retarded and fail to reach the E8.5 stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
T |
C |
5: 115,251,226 (GRCm39) |
E86G |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,448,728 (GRCm39) |
T217A |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,621,702 (GRCm39) |
S300P |
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,346,647 (GRCm39) |
L58P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,389,902 (GRCm39) |
T24A |
probably benign |
Het |
| Ccndbp1 |
C |
A |
2: 120,845,046 (GRCm39) |
T321K |
unknown |
Het |
| Cd200r3 |
G |
A |
16: 44,774,503 (GRCm39) |
C172Y |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,187,132 (GRCm39) |
H9L |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,663,010 (GRCm39) |
E963* |
probably null |
Het |
| Cramp1 |
T |
A |
17: 25,201,674 (GRCm39) |
S603C |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,286,239 (GRCm39) |
R448H |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,287,331 (GRCm39) |
Y1022F |
|
Het |
| Ctns |
T |
C |
11: 73,075,760 (GRCm39) |
Y363C |
probably damaging |
Het |
| D630044L22Rik |
A |
G |
17: 26,179,118 (GRCm39) |
T15A |
possibly damaging |
Het |
| Dhx38 |
A |
C |
8: 110,285,333 (GRCm39) |
I444M |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,443,459 (GRCm39) |
I450F |
possibly damaging |
Het |
| Dpf1 |
T |
C |
7: 29,013,566 (GRCm39) |
F245L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,032,898 (GRCm39) |
V269A |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,126,653 (GRCm39) |
V530L |
possibly damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,860 (GRCm39) |
N41S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,435,470 (GRCm39) |
I142M |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,637,868 (GRCm39) |
M144V |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,457,445 (GRCm39) |
D2381V |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,362 (GRCm39) |
D778V |
unknown |
Het |
| Galnt3 |
A |
G |
2: 65,921,555 (GRCm39) |
I492T |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,155 (GRCm39) |
M1261T |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,695 (GRCm39) |
F126S |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,782,686 (GRCm39) |
L293S |
probably damaging |
Het |
| Ino80c |
G |
A |
18: 24,239,707 (GRCm39) |
T200I |
unknown |
Het |
| Jag1 |
T |
A |
2: 136,943,717 (GRCm39) |
M160L |
probably benign |
Het |
| Kcnj12 |
C |
A |
11: 60,960,825 (GRCm39) |
H374Q |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,816,902 (GRCm39) |
I433M |
probably benign |
Het |
| Lyzl4 |
C |
T |
9: 121,407,160 (GRCm39) |
W123* |
probably null |
Het |
| Map2k4 |
A |
T |
11: 65,597,827 (GRCm39) |
C264S |
|
Het |
| Mmrn1 |
C |
T |
6: 60,921,508 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,850,631 (GRCm39) |
T709I |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,781,931 (GRCm39) |
W1706R |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,869 (GRCm39) |
E531G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Pcdhb11 |
A |
C |
18: 37,555,422 (GRCm39) |
I251L |
probably benign |
Het |
| Per3 |
A |
G |
4: 151,113,270 (GRCm39) |
S353P |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,750 (GRCm39) |
E1738G |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,508 (GRCm39) |
D329G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,479,896 (GRCm39) |
K1125E |
possibly damaging |
Het |
| Rapgef2 |
T |
G |
3: 79,000,343 (GRCm39) |
T351P |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,840,617 (GRCm39) |
Y923C |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,028,727 (GRCm39) |
V717A |
probably benign |
Het |
| Rims1 |
C |
T |
1: 22,358,760 (GRCm39) |
W182* |
probably null |
Het |
| Rnmt |
A |
G |
18: 68,440,723 (GRCm39) |
K129E |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Scamp5 |
T |
C |
9: 57,350,969 (GRCm39) |
Y231C |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,244,921 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
T |
17: 35,068,975 (GRCm39) |
V8D |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,028,234 (GRCm39) |
F510S |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,190,922 (GRCm39) |
Y599C |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,111 (GRCm39) |
N98S |
probably damaging |
Het |
| Stat3 |
T |
C |
11: 100,784,807 (GRCm39) |
N553S |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,735,868 (GRCm39) |
L242Q |
probably damaging |
Het |
| Tacc3 |
C |
T |
5: 33,821,169 (GRCm39) |
R98W |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,595 (GRCm39) |
R112H |
|
Het |
| Ubr3 |
T |
A |
2: 69,819,220 (GRCm39) |
S1337T |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,713 (GRCm39) |
C808* |
probably null |
Het |
| Wnt16 |
G |
A |
6: 22,288,997 (GRCm39) |
A105T |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,198,560 (GRCm39) |
S50L |
probably damaging |
Het |
|
| Other mutations in Ptpn23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Ptpn23
|
APN |
9 |
110,217,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01462:Ptpn23
|
APN |
9 |
110,237,175 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01666:Ptpn23
|
APN |
9 |
110,215,613 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01757:Ptpn23
|
APN |
9 |
110,220,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02402:Ptpn23
|
APN |
9 |
110,222,781 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02891:Ptpn23
|
APN |
9 |
110,217,088 (GRCm39) |
nonsense |
probably null |
|
|
peony
|
UTSW |
9 |
110,215,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4449:Ptpn23
|
UTSW |
9 |
110,216,701 (GRCm39) |
missense |
probably benign |
0.15 |
|
FR4548:Ptpn23
|
UTSW |
9 |
110,216,701 (GRCm39) |
missense |
probably benign |
0.15 |
|
FR4737:Ptpn23
|
UTSW |
9 |
110,216,701 (GRCm39) |
missense |
probably benign |
0.15 |
|
FR4976:Ptpn23
|
UTSW |
9 |
110,216,701 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0111:Ptpn23
|
UTSW |
9 |
110,214,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0377:Ptpn23
|
UTSW |
9 |
110,217,200 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0432:Ptpn23
|
UTSW |
9 |
110,218,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0456:Ptpn23
|
UTSW |
9 |
110,218,861 (GRCm39) |
splice site |
probably null |
|
|
R0457:Ptpn23
|
UTSW |
9 |
110,215,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0988:Ptpn23
|
UTSW |
9 |
110,217,845 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1072:Ptpn23
|
UTSW |
9 |
110,215,663 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1769:Ptpn23
|
UTSW |
9 |
110,220,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1859:Ptpn23
|
UTSW |
9 |
110,217,938 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1891:Ptpn23
|
UTSW |
9 |
110,222,868 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1915:Ptpn23
|
UTSW |
9 |
110,215,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1954:Ptpn23
|
UTSW |
9 |
110,215,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2299:Ptpn23
|
UTSW |
9 |
110,221,581 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2431:Ptpn23
|
UTSW |
9 |
110,215,347 (GRCm39) |
nonsense |
probably null |
|
|
R2445:Ptpn23
|
UTSW |
9 |
110,216,700 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3014:Ptpn23
|
UTSW |
9 |
110,218,763 (GRCm39) |
missense |
probably benign |
|
|
R3820:Ptpn23
|
UTSW |
9 |
110,218,862 (GRCm39) |
unclassified |
probably benign |
|
|
R3904:Ptpn23
|
UTSW |
9 |
110,218,313 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4441:Ptpn23
|
UTSW |
9 |
110,221,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4464:Ptpn23
|
UTSW |
9 |
110,215,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Ptpn23
|
UTSW |
9 |
110,217,924 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4810:Ptpn23
|
UTSW |
9 |
110,218,204 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4937:Ptpn23
|
UTSW |
9 |
110,221,806 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5023:Ptpn23
|
UTSW |
9 |
110,217,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5057:Ptpn23
|
UTSW |
9 |
110,217,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Ptpn23
|
UTSW |
9 |
110,227,256 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5143:Ptpn23
|
UTSW |
9 |
110,214,506 (GRCm39) |
unclassified |
probably benign |
|
|
R5370:Ptpn23
|
UTSW |
9 |
110,214,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5534:Ptpn23
|
UTSW |
9 |
110,221,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5715:Ptpn23
|
UTSW |
9 |
110,216,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Ptpn23
|
UTSW |
9 |
110,214,511 (GRCm39) |
unclassified |
probably benign |
|
|
R6122:Ptpn23
|
UTSW |
9 |
110,216,893 (GRCm39) |
unclassified |
probably benign |
|
|
R6155:Ptpn23
|
UTSW |
9 |
110,216,849 (GRCm39) |
unclassified |
probably benign |
|
|
R6156:Ptpn23
|
UTSW |
9 |
110,216,849 (GRCm39) |
unclassified |
probably benign |
|
|
R6296:Ptpn23
|
UTSW |
9 |
110,222,894 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6755:Ptpn23
|
UTSW |
9 |
110,218,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7018:Ptpn23
|
UTSW |
9 |
110,214,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7126:Ptpn23
|
UTSW |
9 |
110,217,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7181:Ptpn23
|
UTSW |
9 |
110,214,325 (GRCm39) |
missense |
unknown |
|
|
R7578:Ptpn23
|
UTSW |
9 |
110,216,676 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7675:Ptpn23
|
UTSW |
9 |
110,216,094 (GRCm39) |
nonsense |
probably null |
|
|
R7776:Ptpn23
|
UTSW |
9 |
110,215,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7797:Ptpn23
|
UTSW |
9 |
110,222,875 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8071:Ptpn23
|
UTSW |
9 |
110,217,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8954:Ptpn23
|
UTSW |
9 |
110,221,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Ptpn23
|
UTSW |
9 |
110,218,693 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9208:Ptpn23
|
UTSW |
9 |
110,237,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9380:Ptpn23
|
UTSW |
9 |
110,221,581 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9404:Ptpn23
|
UTSW |
9 |
110,216,025 (GRCm39) |
missense |
|
|
|
R9570:Ptpn23
|
UTSW |
9 |
110,227,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9649:Ptpn23
|
UTSW |
9 |
110,215,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0062:Ptpn23
|
UTSW |
9 |
110,216,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGCTTGGTCCCTATAG -3'
(R):5'- TCAACTGATGCAGCCTAGGG -3'
Sequencing Primer
(F):5'- AGGCTGCTTGGTCCCTATAGAATAAG -3'
(R):5'- TAGGGCTGCAGTTCCCATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation