Incidental Mutation 'R4709:Ptpn23'
| ID |
355495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
042018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4709 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110217924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 674
(S674P)
|
| 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: S674P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: S674P
| 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
|
| Meta Mutation Damage Score |
0.2922 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Abcf1 |
G |
A |
17: 36,271,069 (GRCm39) |
T463M |
probably damaging |
Het |
| Arhgap35 |
C |
T |
7: 16,297,511 (GRCm39) |
G518D |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,470,517 (GRCm39) |
Y110H |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,604 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,061 (GRCm39) |
V77A |
possibly damaging |
Het |
| Cers2 |
A |
G |
3: 95,227,534 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,821,120 (GRCm39) |
H145Q |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,073,905 (GRCm39) |
I2030N |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,760,522 (GRCm39) |
|
probably null |
Het |
| Dhodh |
T |
C |
8: 110,328,170 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,982,495 (GRCm39) |
Y2558F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| En1 |
A |
T |
1: 120,534,872 (GRCm39) |
Y387F |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,423,363 (GRCm39) |
C305F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,315 (GRCm39) |
V1477A |
probably benign |
Het |
| Gimap3 |
A |
T |
6: 48,742,327 (GRCm39) |
L201Q |
probably benign |
Het |
| Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
A |
G |
12: 24,636,132 (GRCm39) |
I283V |
possibly damaging |
Het |
| Grid2ip |
T |
A |
5: 143,374,658 (GRCm39) |
L926H |
probably damaging |
Het |
| Gtf2h2 |
G |
T |
13: 100,605,523 (GRCm39) |
C82* |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,433,588 (GRCm39) |
T280A |
probably benign |
Het |
| Gzmd |
T |
C |
14: 56,367,698 (GRCm39) |
I192V |
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,834,695 (GRCm39) |
V855A |
possibly damaging |
Het |
| Hey1 |
A |
G |
3: 8,730,963 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,249,243 (GRCm39) |
S19P |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,853,964 (GRCm39) |
R696W |
unknown |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,900,343 (GRCm39) |
I53T |
probably damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,700 (GRCm39) |
E208* |
probably null |
Het |
| Myh9 |
A |
T |
15: 77,671,717 (GRCm39) |
I458N |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nectin3 |
T |
A |
16: 46,284,306 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nek5 |
A |
T |
8: 22,573,443 (GRCm39) |
N504K |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,424 (GRCm39) |
H108Q |
probably benign |
Het |
| Or10d5 |
A |
T |
9: 39,861,165 (GRCm39) |
L301M |
probably damaging |
Het |
| Or2ak4 |
T |
C |
11: 58,649,013 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,989 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,458 (GRCm39) |
T137S |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
| Or9i14 |
T |
A |
19: 13,792,814 (GRCm39) |
I47F |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,548 (GRCm39) |
T565A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,828,572 (GRCm39) |
N4676D |
unknown |
Het |
| Pdlim1 |
T |
A |
19: 40,211,180 (GRCm39) |
H278L |
probably benign |
Het |
| Pfkfb3 |
G |
A |
2: 11,498,719 (GRCm39) |
T46M |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,311,733 (GRCm39) |
D924G |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,292,031 (GRCm39) |
|
probably benign |
Het |
| Ranbp6 |
C |
T |
19: 29,788,984 (GRCm39) |
R456Q |
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,819,728 (GRCm39) |
V46E |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,884 (GRCm39) |
I2352T |
probably damaging |
Het |
| Sbk2 |
G |
T |
7: 4,960,577 (GRCm39) |
R198S |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,386,166 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
G |
A |
4: 150,722,697 (GRCm39) |
P396S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,087,861 (GRCm39) |
D418G |
probably null |
Het |
| Smarcad1 |
A |
G |
6: 65,052,099 (GRCm39) |
T411A |
probably benign |
Het |
| Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
| Stag1 |
G |
T |
9: 100,620,092 (GRCm39) |
R65L |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,165,680 (GRCm39) |
D92V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,359,606 (GRCm39) |
T164A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,860 (GRCm39) |
D217E |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,030,924 (GRCm39) |
E553G |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,088 (GRCm39) |
F333L |
probably benign |
Het |
| Ypel5 |
G |
A |
17: 73,155,726 (GRCm39) |
R98H |
probably benign |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,062,268 (GRCm39) |
S176G |
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 |
|
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'- TTCAGCTCTCTAAGGGACAGG -3'
(R):5'- TGAGGCCAACGTGCAGTATG -3'
Sequencing Primer
(F):5'- AGGCTAGCCTCCATAAGTCAGG -3'
(R):5'- CGGCGGGTGCTTAGTGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation