Incidental Mutation 'R5715:Ptpn23'
| ID |
451123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
043336-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5715 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110216143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1238
(R1238W)
|
| 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: R1238W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: R1238W
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,777 (GRCm39) |
Y552F |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,596 (GRCm39) |
D147E |
probably benign |
Het |
| Atg4c |
G |
T |
4: 99,146,639 (GRCm39) |
L405F |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,938,615 (GRCm39) |
L2670F |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,015 (GRCm39) |
D379G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,798 (GRCm39) |
M2520V |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,619,018 (GRCm39) |
V707A |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,523,347 (GRCm39) |
C2743* |
probably null |
Het |
| Coq6 |
C |
A |
12: 84,413,681 (GRCm39) |
D70E |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,798,335 (GRCm39) |
V1450D |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,452,937 (GRCm39) |
L3847P |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,189 (GRCm39) |
H316Q |
probably benign |
Het |
| Dusp19 |
T |
A |
2: 80,461,330 (GRCm39) |
N206K |
probably benign |
Het |
| Fam13c |
T |
G |
10: 70,370,670 (GRCm39) |
F270C |
probably damaging |
Het |
| Fam20a |
T |
C |
11: 109,569,257 (GRCm39) |
E246G |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,305,302 (GRCm39) |
F65L |
probably damaging |
Het |
| Fshr |
T |
A |
17: 89,293,824 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
T |
C |
11: 52,891,243 (GRCm39) |
V127A |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,610,804 (GRCm39) |
I75F |
probably benign |
Het |
| Grm5 |
C |
A |
7: 87,779,464 (GRCm39) |
A968E |
probably benign |
Het |
| Gucy2g |
A |
C |
19: 55,221,587 (GRCm39) |
F305V |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,570 (GRCm39) |
F629L |
probably benign |
Het |
| Hoxb1 |
A |
G |
11: 96,257,152 (GRCm39) |
E167G |
probably benign |
Het |
| Hoxd4 |
T |
C |
2: 74,557,708 (GRCm39) |
L29P |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,168,866 (GRCm39) |
L211P |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,449,076 (GRCm39) |
V499A |
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,978,641 (GRCm39) |
H511Q |
possibly damaging |
Het |
| Itpripl1 |
T |
C |
2: 126,983,927 (GRCm39) |
E65G |
probably damaging |
Het |
| Lurap1l |
T |
A |
4: 80,871,958 (GRCm39) |
S150R |
possibly damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,730,723 (GRCm39) |
R172Q |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
| Mettl21a |
A |
T |
1: 64,654,314 (GRCm39) |
S68T |
probably benign |
Het |
| Mlxip |
T |
A |
5: 123,578,121 (GRCm39) |
W146R |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,953,087 (GRCm39) |
N285I |
probably damaging |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,787 (GRCm39) |
N47S |
probably damaging |
Het |
| Msi2 |
A |
G |
11: 88,276,889 (GRCm39) |
Y237H |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,570,734 (GRCm39) |
T598I |
possibly damaging |
Het |
| Musk |
A |
T |
4: 58,333,663 (GRCm39) |
I253F |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,875,246 (GRCm39) |
C1550F |
possibly damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,457 (GRCm39) |
T1137A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
| Nxph1 |
T |
A |
6: 9,247,740 (GRCm39) |
V237E |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,289,009 (GRCm39) |
S113A |
probably damaging |
Het |
| Pla2g12a |
A |
G |
3: 129,688,591 (GRCm39) |
K150E |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,097,989 (GRCm39) |
Y56H |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,870 (GRCm39) |
D159G |
possibly damaging |
Het |
| Pts |
C |
T |
9: 50,433,578 (GRCm39) |
G124R |
probably damaging |
Het |
| Rfk |
A |
T |
19: 17,376,002 (GRCm39) |
I99F |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,780,197 (GRCm39) |
R151* |
probably null |
Het |
| Scn2a |
T |
A |
2: 65,547,928 (GRCm39) |
I1040N |
probably benign |
Het |
| Serinc5 |
A |
C |
13: 92,842,710 (GRCm39) |
T387P |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,841 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,201,551 (GRCm39) |
Y656C |
probably damaging |
Het |
| Slc26a3 |
T |
A |
12: 31,498,842 (GRCm39) |
|
probably null |
Het |
| Slc3a2 |
G |
T |
19: 8,685,594 (GRCm39) |
H168Q |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,626,522 (GRCm39) |
I449L |
probably benign |
Het |
| Smarcc1 |
T |
C |
9: 110,025,435 (GRCm39) |
V704A |
possibly damaging |
Het |
| Sox13 |
A |
G |
1: 133,313,921 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,902,985 (GRCm39) |
E7G |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,971,110 (GRCm39) |
D26G |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,411,868 (GRCm39) |
R91* |
probably null |
Het |
| Tgfbrap1 |
A |
T |
1: 43,099,097 (GRCm39) |
V239D |
possibly damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,922 (GRCm39) |
Y124* |
probably null |
Het |
| Tmprss2 |
T |
A |
16: 97,370,183 (GRCm39) |
E327V |
possibly damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,790,133 (GRCm39) |
Y104C |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,129,848 (GRCm39) |
F154I |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,438,412 (GRCm39) |
Y40* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 38,002,477 (GRCm39) |
S1519T |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,430 (GRCm39) |
D193A |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,805,628 (GRCm39) |
Y6N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,015,201 (GRCm39) |
D447V |
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,155,717 (GRCm39) |
N519S |
possibly damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,995 (GRCm39) |
E138G |
possibly damaging |
Het |
| Znrf3 |
A |
C |
11: 5,236,239 (GRCm39) |
V157G |
possibly 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 |
|
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'- AATCATCTTTGCCTGAGCGCAG -3'
(R):5'- TGGCCCAGTACCTTCAAGAC -3'
Sequencing Primer
(F):5'- AGCACCACACGGTTGCTG -3'
(R):5'- TCTTCTAGCCCTGAGAGCCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation