Incidental Mutation 'R6155:Ptpn23'
| ID |
489527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
044302-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6155 (G1)
|
| Quality Score |
104.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 110216849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040021]
[ENSMUST00000098350]
|
| AlphaFold |
Q6PB44 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000040021
AA Change: Q1002H
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: Q1002H
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,111,510 (GRCm39) |
Y319C |
probably benign |
Het |
| Actn4 |
A |
C |
7: 28,595,566 (GRCm39) |
I763S |
probably damaging |
Het |
| Actr8 |
G |
A |
14: 29,700,546 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
T |
C |
19: 56,711,336 (GRCm39) |
L178P |
probably damaging |
Het |
| Afap1 |
A |
G |
5: 36,092,953 (GRCm39) |
Y19C |
unknown |
Het |
| Ankrd36 |
A |
G |
11: 5,637,442 (GRCm39) |
E1337G |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,519 (GRCm39) |
V76G |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,745,447 (GRCm39) |
I246K |
probably damaging |
Het |
| Camk4 |
A |
T |
18: 33,072,500 (GRCm39) |
T18S |
unknown |
Het |
| Cep152 |
T |
C |
2: 125,423,620 (GRCm39) |
H927R |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,525,118 (GRCm39) |
I38T |
probably damaging |
Het |
| Clec2g |
A |
C |
6: 128,957,236 (GRCm39) |
T54P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,149,362 (GRCm39) |
E31G |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 15,953,231 (GRCm39) |
I3417V |
probably benign |
Het |
| Dhtkd1 |
A |
C |
2: 5,915,170 (GRCm39) |
H700Q |
probably null |
Het |
| Dnah10 |
G |
A |
5: 124,847,663 (GRCm39) |
V1516M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,862,239 (GRCm39) |
T2165A |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,244,123 (GRCm39) |
M1072I |
probably benign |
Het |
| F11 |
T |
A |
8: 45,705,119 (GRCm39) |
T141S |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,350 (GRCm39) |
I245F |
probably damaging |
Het |
| H2-T5 |
G |
A |
17: 36,478,399 (GRCm39) |
A211V |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,705 (GRCm39) |
C1685S |
possibly damaging |
Het |
| Iftap |
A |
T |
2: 101,406,355 (GRCm39) |
|
probably null |
Het |
| Il20 |
G |
T |
1: 130,838,477 (GRCm39) |
D73E |
probably damaging |
Het |
| Ireb2 |
C |
A |
9: 54,793,811 (GRCm39) |
P247Q |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,895,807 (GRCm39) |
I220V |
probably benign |
Het |
| Lce1j |
T |
G |
3: 92,696,379 (GRCm39) |
Q133P |
unknown |
Het |
| Lgals9 |
C |
T |
11: 78,854,331 (GRCm39) |
A287T |
probably benign |
Het |
| Lrrc52 |
A |
G |
1: 167,294,296 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
T |
10: 19,994,187 (GRCm39) |
H1027L |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,313 (GRCm39) |
D407G |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,415,690 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,401,631 (GRCm39) |
F673S |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,249,368 (GRCm39) |
D1312G |
probably damaging |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,395 (GRCm39) |
F298I |
probably damaging |
Het |
| Npas2 |
G |
A |
1: 39,326,557 (GRCm39) |
R14Q |
probably damaging |
Het |
| Npas4 |
C |
T |
19: 5,036,898 (GRCm39) |
C422Y |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,974,076 (GRCm39) |
D181G |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,443,411 (GRCm39) |
I279N |
possibly damaging |
Het |
| Or4c123 |
A |
G |
2: 89,126,765 (GRCm39) |
L283S |
probably damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,493 (GRCm39) |
V164A |
probably benign |
Het |
| Pcdhga4 |
T |
C |
18: 37,819,546 (GRCm39) |
I365T |
probably damaging |
Het |
| Pear1 |
T |
A |
3: 87,666,875 (GRCm39) |
T37S |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,559,454 (GRCm39) |
F24I |
probably benign |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pnliprp1 |
T |
C |
19: 58,718,565 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,712 (GRCm39) |
H337L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,603,278 (GRCm39) |
F164I |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,954,105 (GRCm39) |
F45Y |
probably damaging |
Het |
| Pusl1 |
A |
G |
4: 155,975,005 (GRCm39) |
S199P |
probably damaging |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,823,458 (GRCm39) |
L1545P |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Ruvbl1 |
A |
T |
6: 88,456,107 (GRCm39) |
|
probably null |
Het |
| Slc35b3 |
A |
T |
13: 39,128,572 (GRCm39) |
S30T |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,387,136 (GRCm39) |
V207A |
possibly damaging |
Het |
| Sox13 |
A |
G |
1: 133,321,005 (GRCm39) |
S2P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,087,403 (GRCm39) |
L999R |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,555,317 (GRCm39) |
V1015A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,709,373 (GRCm39) |
L687P |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,402 (GRCm39) |
Y1824H |
possibly damaging |
Het |
| Txk |
A |
G |
5: 72,858,069 (GRCm39) |
Y360H |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,114 (GRCm39) |
I115V |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,286,143 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zbtb48 |
T |
C |
4: 152,106,495 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,319 (GRCm39) |
I126V |
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 |
|
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 |
|
|
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'- CTTGAGATGGGCCTGGATAG -3'
(R):5'- TATAGGGACCAAGCAGCACC -3'
Sequencing Primer
(F):5'- GTCCCAAGACACCAGGCTGAG -3'
(R):5'- AGCAGCACCTCACTGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation