Incidental Mutation 'R0456:Ptpn23'
ID |
40032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn23
|
Ensembl Gene |
ENSMUSG00000036057 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
Synonyms |
PTP-TD14 |
MMRRC Submission |
038656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0456 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 110218861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040021]
[ENSMUST00000040021]
[ENSMUST00000098350]
|
AlphaFold |
Q6PB44 |
PDB Structure |
MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000040021
|
SMART Domains |
Protein: ENSMUSP00000039580 Gene: ENSMUSG00000036057
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 null
Transcript: ENSMUST00000040021
|
SMART Domains |
Protein: ENSMUSP00000039580 Gene: ENSMUSG00000036057
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: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd29 |
G |
A |
18: 12,429,036 (GRCm39) |
P11L |
probably damaging |
Het |
Antxr1 |
A |
C |
6: 87,194,257 (GRCm39) |
V347G |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,051,492 (GRCm39) |
N1127D |
probably benign |
Het |
Bivm |
T |
A |
1: 44,165,969 (GRCm39) |
W140R |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,494,776 (GRCm39) |
V928A |
possibly damaging |
Het |
Chia1 |
T |
C |
3: 106,035,795 (GRCm39) |
Y152H |
probably damaging |
Het |
Chsy3 |
A |
T |
18: 59,309,550 (GRCm39) |
I268F |
probably damaging |
Het |
CK137956 |
A |
T |
4: 127,839,100 (GRCm39) |
N439K |
probably damaging |
Het |
Csf3r |
C |
A |
4: 125,929,654 (GRCm39) |
N392K |
probably damaging |
Het |
Cyp1b1 |
T |
C |
17: 80,017,704 (GRCm39) |
I484V |
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,232,169 (GRCm39) |
K280E |
probably damaging |
Het |
Eefsec |
A |
G |
6: 88,274,870 (GRCm39) |
Y365H |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,142,843 (GRCm39) |
|
probably null |
Het |
Erap1 |
G |
A |
13: 74,812,339 (GRCm39) |
V385I |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,482,571 (GRCm39) |
I3077F |
probably damaging |
Het |
Fras1 |
T |
G |
5: 96,862,202 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
T |
5: 96,702,647 (GRCm39) |
G230C |
probably damaging |
Het |
Gsg1l |
A |
G |
7: 125,522,682 (GRCm39) |
M182T |
possibly damaging |
Het |
Gzmg |
A |
G |
14: 56,395,779 (GRCm39) |
V60A |
probably damaging |
Het |
H4c6 |
T |
C |
13: 23,735,561 (GRCm39) |
D86G |
probably damaging |
Het |
Hapln4 |
A |
T |
8: 70,537,645 (GRCm39) |
Y113F |
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,471,677 (GRCm39) |
T274S |
probably damaging |
Het |
Kansl1l |
T |
A |
1: 66,774,885 (GRCm39) |
H302L |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,500,893 (GRCm39) |
V118A |
probably damaging |
Het |
Kpna1 |
T |
C |
16: 35,823,270 (GRCm39) |
S41P |
possibly damaging |
Het |
Krt23 |
A |
G |
11: 99,377,604 (GRCm39) |
V134A |
probably benign |
Het |
Lamb1 |
G |
A |
12: 31,354,729 (GRCm39) |
C992Y |
probably damaging |
Het |
Lrif1 |
C |
T |
3: 106,639,094 (GRCm39) |
P35S |
probably benign |
Het |
Lrrc4 |
A |
G |
6: 28,831,103 (GRCm39) |
S171P |
probably damaging |
Het |
Lvrn |
G |
A |
18: 46,997,883 (GRCm39) |
|
probably null |
Het |
Matr3 |
T |
A |
18: 35,705,917 (GRCm39) |
F281I |
probably damaging |
Het |
Meak7 |
A |
T |
8: 120,495,162 (GRCm39) |
F199I |
probably damaging |
Het |
Nxn |
G |
A |
11: 76,153,963 (GRCm39) |
Q291* |
probably null |
Het |
Or5b113 |
A |
G |
19: 13,342,102 (GRCm39) |
T37A |
probably damaging |
Het |
Pdp2 |
G |
T |
8: 105,320,421 (GRCm39) |
R90L |
probably damaging |
Het |
Ppp1r3c |
C |
A |
19: 36,711,291 (GRCm39) |
E160* |
probably null |
Het |
Ppp2r5c |
T |
G |
12: 110,489,013 (GRCm39) |
S118R |
probably damaging |
Het |
Ptpro |
G |
T |
6: 137,391,228 (GRCm39) |
V783L |
probably benign |
Het |
Rab40c |
A |
G |
17: 26,103,631 (GRCm39) |
V144A |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,977,413 (GRCm39) |
N1087S |
probably damaging |
Het |
Rfc3 |
T |
A |
5: 151,570,988 (GRCm39) |
S103C |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,155,823 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rit2 |
A |
T |
18: 31,108,504 (GRCm39) |
F160L |
probably benign |
Het |
Rnh1 |
A |
G |
7: 140,742,461 (GRCm39) |
S366P |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,682,292 (GRCm39) |
Y2029C |
possibly damaging |
Het |
Smpd3 |
T |
A |
8: 106,986,288 (GRCm39) |
I505F |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,642,483 (GRCm39) |
S379C |
possibly damaging |
Het |
Sult1e1 |
A |
G |
5: 87,726,493 (GRCm39) |
L207P |
possibly damaging |
Het |
Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,292,252 (GRCm39) |
T1339A |
probably benign |
Het |
Tas2r117 |
A |
G |
6: 132,780,354 (GRCm39) |
N164S |
probably benign |
Het |
Tigd3 |
A |
G |
19: 5,942,821 (GRCm39) |
L103P |
probably damaging |
Het |
Tmem132b |
T |
C |
5: 125,864,788 (GRCm39) |
S965P |
probably damaging |
Het |
Tmem82 |
T |
C |
4: 141,344,701 (GRCm39) |
T81A |
probably benign |
Het |
Tmem8b |
A |
G |
4: 43,685,618 (GRCm39) |
T156A |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,982 (GRCm39) |
E198G |
probably benign |
Het |
Tnpo2 |
A |
G |
8: 85,781,045 (GRCm39) |
N767S |
probably damaging |
Het |
Trf |
T |
C |
9: 103,104,102 (GRCm39) |
Y87C |
probably damaging |
Het |
Tst |
A |
G |
15: 78,289,780 (GRCm39) |
V85A |
probably damaging |
Het |
Usp37 |
A |
T |
1: 74,507,507 (GRCm39) |
N503K |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,590,435 (GRCm39) |
M2346I |
possibly damaging |
Het |
Vax2 |
A |
G |
6: 83,688,388 (GRCm39) |
D37G |
probably benign |
Het |
Vmn1r77 |
T |
A |
7: 11,775,665 (GRCm39) |
L79* |
probably null |
Het |
Zbtb3 |
A |
T |
19: 8,780,564 (GRCm39) |
D59V |
probably damaging |
Het |
Zdhhc13 |
T |
C |
7: 48,458,602 (GRCm39) |
F182S |
probably benign |
Het |
Zfp426 |
A |
G |
9: 20,381,593 (GRCm39) |
F465L |
probably damaging |
Het |
Zfp526 |
A |
G |
7: 24,925,637 (GRCm39) |
E632G |
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 |
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 |
|
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'- GGTTCATAGCACGATGCAGCTCAC -3'
(R):5'- CCTGACACTGTCAAGAACCTTGTCC -3'
Sequencing Primer
(F):5'- GAAGGAAGCCTTTTCATGCAC -3'
(R):5'- AGAACCTTGTCCAGTCTATGCAG -3'
|
Posted On |
2013-05-23 |