Incidental Mutation 'R0111:Ptpn23'
| ID |
20460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
038397-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110214691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1570
(D1570G)
|
| 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 damaging
Transcript: ENSMUST00000040021
AA Change: D1570G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: D1570G
| 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 |
unknown
Transcript: ENSMUST00000200531
AA Change: D149G
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.8%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
T |
17: 56,124,073 (GRCm39) |
H491L |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,738 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,606,743 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,594,864 (GRCm39) |
Y334H |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,717,157 (GRCm39) |
D101V |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,907,566 (GRCm39) |
N57K |
probably benign |
Het |
| Clec4d |
C |
A |
6: 123,245,006 (GRCm39) |
Y95* |
probably null |
Het |
| Cracr2a |
A |
G |
6: 127,581,024 (GRCm39) |
T67A |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,533,961 (GRCm39) |
V53D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,507,843 (GRCm39) |
D3076G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,464 (GRCm39) |
M608T |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,794,183 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,454,339 (GRCm39) |
V1884A |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,879,595 (GRCm39) |
S674R |
probably benign |
Het |
| Hoxa2 |
T |
G |
6: 52,141,467 (GRCm39) |
|
probably null |
Het |
| Ifi47 |
T |
A |
11: 48,986,897 (GRCm39) |
N221K |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,333,662 (GRCm39) |
V340A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,851,960 (GRCm39) |
N373K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,129,771 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,523 (GRCm39) |
T6A |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,044,493 (GRCm39) |
I131F |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,361,991 (GRCm39) |
D91G |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,577,702 (GRCm39) |
T572I |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,046,077 (GRCm39) |
F1710L |
probably benign |
Het |
| Or13e8 |
T |
C |
4: 43,696,648 (GRCm39) |
N175S |
probably damaging |
Het |
| Or6c6c |
T |
A |
10: 129,541,146 (GRCm39) |
I133N |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,555,254 (GRCm39) |
L92P |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,462,651 (GRCm39) |
Y1445* |
probably null |
Het |
| Pde1b |
T |
C |
15: 103,411,940 (GRCm39) |
S14P |
probably benign |
Het |
| Pitpna |
T |
C |
11: 75,516,310 (GRCm39) |
V265A |
probably benign |
Het |
| Plec |
G |
T |
15: 76,062,846 (GRCm39) |
T2476K |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Ppp3cc |
C |
T |
14: 70,493,808 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
G |
7: 127,533,717 (GRCm39) |
L530P |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,728,629 (GRCm39) |
|
probably benign |
Het |
| Rab42 |
T |
C |
4: 132,029,676 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,438,737 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,983 (GRCm39) |
E2043G |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,778,443 (GRCm39) |
S341F |
probably damaging |
Het |
| Samd9l |
C |
T |
6: 3,374,946 (GRCm39) |
V772I |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,510,074 (GRCm39) |
M654T |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,686 (GRCm39) |
K407E |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,743 (GRCm39) |
P333S |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,187,744 (GRCm39) |
R162S |
probably benign |
Het |
| Spryd3 |
A |
T |
15: 102,036,972 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,166 (GRCm39) |
F66L |
probably benign |
Het |
| Tent5c |
T |
C |
3: 100,380,102 (GRCm39) |
D218G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,532 (GRCm39) |
N196S |
probably benign |
Het |
| Themis2 |
C |
A |
4: 132,517,236 (GRCm39) |
R88L |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,736,854 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,528,437 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,892,624 (GRCm39) |
H64Q |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,435,022 (GRCm39) |
R561G |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,117,525 (GRCm39) |
D604G |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,418 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,338,722 (GRCm39) |
N321I |
probably damaging |
Het |
| Zfp595 |
A |
G |
13: 67,468,984 (GRCm39) |
F11S |
possibly damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,139 (GRCm39) |
H271L |
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 |
|
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 |
110,217,268 (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'- TGCTTTCCCCGTAAAGAACTGTCC -3'
(R):5'- GCCAGTGTGAACATCAGCCAGAAG -3'
Sequencing Primer
(F):5'- CCAGTGAAAATGCTTCTGGAGTC -3'
(R):5'- AAGGTGAGGGCGGTTCC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation