Incidental Mutation 'R0457:Ptpn23'
| ID |
41231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
038657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110215361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1433
(H1433L)
|
| 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: H1433L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: H1433L
| 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 |
noncoding transcript
Transcript: ENSMUST00000199254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200278
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200531
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
| Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,568,444 (GRCm39) |
E12G |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
| C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
| Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
| Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
| Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
| Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
| Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
| Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
| Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
| Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
| Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
| Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
| Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
| Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
| Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
| Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,413,155 (GRCm39) |
M672K |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
| Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,795,966 (GRCm39) |
V1715A |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,284,167 (GRCm39) |
M772K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
| Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
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 |
|
|
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 |
110,217,268 (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'- TCATGGCAGAACTTGAGGTGAAGC -3'
(R):5'- AGCGTGGCACTGAGCAGTATTC -3'
Sequencing Primer
(F):5'- GCTAGAGACACACATTTGGTCTTG -3'
(R):5'- GAGCAGTATTCGTACTACTGAGACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation