Incidental Mutation 'R7126:Ptpn23'
| ID |
552335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
045213-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110217812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 711
(D711G)
|
| 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 |
probably benign
Transcript: ENSMUST00000040021
AA Change: D711G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: D711G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,535,988 (GRCm39) |
C85R |
unknown |
Het |
| 3110082I17Rik |
G |
T |
5: 139,347,005 (GRCm39) |
H153Q |
unknown |
Het |
| Acadsb |
T |
C |
7: 131,039,177 (GRCm39) |
I316T |
probably benign |
Het |
| Acsbg2 |
A |
T |
17: 57,153,633 (GRCm39) |
N523K |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,979,723 (GRCm39) |
P336S |
possibly damaging |
Het |
| Ankdd1b |
A |
G |
13: 96,566,370 (GRCm39) |
V277A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,408,541 (GRCm39) |
Y2476C |
probably benign |
Het |
| Atg13 |
G |
A |
2: 91,510,765 (GRCm39) |
R321W |
probably damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,735 (GRCm39) |
F211S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,464,119 (GRCm39) |
T913S |
possibly damaging |
Het |
| Btbd18 |
A |
T |
2: 84,496,546 (GRCm39) |
E61D |
possibly damaging |
Het |
| Btnl9 |
G |
T |
11: 49,060,082 (GRCm39) |
S555R |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,838,113 (GRCm39) |
M379L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,741,853 (GRCm39) |
G1614D |
unknown |
Het |
| Cmya5 |
G |
A |
13: 93,226,448 (GRCm39) |
P2880L |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,473,292 (GRCm39) |
S729P |
probably damaging |
Het |
| Cox16 |
T |
A |
12: 81,518,940 (GRCm39) |
E70D |
probably benign |
Het |
| Cp |
A |
G |
3: 20,034,788 (GRCm39) |
H699R |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,209 (GRCm39) |
N56D |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,725,667 (GRCm39) |
Y707C |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,349,983 (GRCm39) |
E2555D |
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,729,154 (GRCm39) |
T6A |
unknown |
Het |
| Filip1 |
A |
G |
9: 79,805,577 (GRCm39) |
L59P |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,813,485 (GRCm39) |
N3268S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,014 (GRCm39) |
C457S |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Grep1 |
C |
T |
17: 23,939,538 (GRCm39) |
V8I |
probably benign |
Het |
| Grid2 |
T |
A |
6: 64,053,794 (GRCm39) |
V331E |
probably damaging |
Het |
| Inpp4a |
C |
A |
1: 37,413,353 (GRCm39) |
H123Q |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,793,851 (GRCm39) |
Y260* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,259,294 (GRCm39) |
Q628* |
probably null |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,759 (GRCm39) |
A453T |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,648 (GRCm39) |
T347A |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,477,073 (GRCm39) |
D874V |
probably benign |
Het |
| Klhl12 |
A |
G |
1: 134,395,521 (GRCm39) |
H161R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,871 (GRCm39) |
E412G |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,573,132 (GRCm39) |
I95V |
probably damaging |
Het |
| Mme |
C |
T |
3: 63,276,322 (GRCm39) |
P700S |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,290,472 (GRCm39) |
V53A |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,468,439 (GRCm39) |
L210P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,512 (GRCm39) |
T4594A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,590,318 (GRCm39) |
C537* |
probably null |
Het |
| Olfm5 |
A |
T |
7: 103,809,187 (GRCm39) |
C208S |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,887 (GRCm39) |
I139N |
possibly damaging |
Het |
| Or2ad1 |
A |
T |
13: 21,326,888 (GRCm39) |
L113H |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,411 (GRCm39) |
V135A |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,376,412 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
C |
T |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,103,954 (GRCm39) |
I169N |
probably damaging |
Het |
| Scn7a |
G |
T |
2: 66,587,630 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,006 (GRCm39) |
P53L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,802,458 (GRCm39) |
I264L |
probably benign |
Het |
| Smarcd1 |
A |
T |
15: 99,607,206 (GRCm39) |
D393V |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,008,751 (GRCm39) |
N1960K |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,845 (GRCm39) |
T62A |
possibly damaging |
Het |
| Taar7b |
T |
A |
10: 23,875,960 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Terf1 |
A |
T |
1: 15,883,363 (GRCm39) |
I159L |
probably benign |
Het |
| Tff3 |
T |
G |
17: 31,346,410 (GRCm39) |
N54T |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,905,818 (GRCm39) |
L285P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,896,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,531,405 (GRCm39) |
C38R |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,960,648 (GRCm39) |
T647S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,960,133 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,397 (GRCm39) |
Q1421* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,284,982 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
T |
G |
6: 89,953,976 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,088 (GRCm39) |
F282S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,218 (GRCm39) |
S844P |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,688,243 (GRCm39) |
C855G |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
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 |
|
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 |
110,217,268 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TAGGAATGGGTCAGGTAGCC -3'
(R):5'- ACACTACAGACCCTGGTAGC -3'
Sequencing Primer
(F):5'- TGGGCCAACCATCATGTCAG -3'
(R):5'- AGACCCTGGTAGCATCCTATGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation