Incidental Mutation 'R6156:Ptpn23'
| ID |
489595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
044303-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6156 (G1)
|
| Quality Score |
100.008 |
|
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: 93.9%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
G |
15: 64,689,488 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,737,886 (GRCm39) |
D2579G |
probably damaging |
Het |
| Atp6v1b1 |
G |
C |
6: 83,735,115 (GRCm39) |
G423R |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,191,801 (GRCm39) |
N644S |
probably benign |
Het |
| Bhmt1b |
C |
A |
18: 87,775,231 (GRCm39) |
Y251* |
probably null |
Het |
| Capsl |
T |
G |
15: 9,465,920 (GRCm39) |
M132R |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,836,295 (GRCm39) |
Y797H |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,013 (GRCm39) |
T214A |
probably damaging |
Het |
| Clec2e |
T |
A |
6: 129,072,061 (GRCm39) |
D106V |
possibly damaging |
Het |
| Col6a2 |
C |
T |
10: 76,440,004 (GRCm39) |
V634I |
possibly damaging |
Het |
| Dis3 |
T |
C |
14: 99,336,215 (GRCm39) |
E97G |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,939,281 (GRCm39) |
|
probably null |
Het |
| Dock2 |
C |
A |
11: 34,197,789 (GRCm39) |
V1484F |
possibly damaging |
Het |
| Ephb2 |
T |
A |
4: 136,388,816 (GRCm39) |
M593L |
probably benign |
Het |
| Fcgrt |
T |
C |
7: 44,751,484 (GRCm39) |
T125A |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,319 (GRCm39) |
I98T |
probably benign |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,514 (GRCm39) |
S154G |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,445,160 (GRCm39) |
T389I |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,598,896 (GRCm39) |
F169L |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,215,866 (GRCm39) |
K5E |
possibly damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,437 (GRCm39) |
I417T |
possibly damaging |
Het |
| Igkv4-91 |
G |
T |
6: 68,745,607 (GRCm39) |
T97K |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,489,608 (GRCm39) |
Y458H |
possibly damaging |
Het |
| Impg1 |
A |
T |
9: 80,230,106 (GRCm39) |
C740S |
probably damaging |
Het |
| Itgb1 |
C |
G |
8: 129,458,535 (GRCm39) |
T788R |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,477,907 (GRCm39) |
V143A |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,029,587 (GRCm39) |
T136K |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,366,073 (GRCm39) |
I1331T |
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,762,325 (GRCm39) |
A336V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,071,879 (GRCm39) |
I536F |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,618 (GRCm39) |
M826V |
probably benign |
Het |
| Naca |
T |
C |
10: 127,875,160 (GRCm39) |
|
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,364 (GRCm39) |
Y30H |
probably damaging |
Het |
| Or12j4 |
A |
G |
7: 140,046,758 (GRCm39) |
T215A |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,447 (GRCm39) |
Y290* |
probably null |
Het |
| Or2n1d |
T |
A |
17: 38,646,064 (GRCm39) |
N5K |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,934 (GRCm39) |
I242L |
probably benign |
Het |
| Or4f14d |
A |
T |
2: 111,960,445 (GRCm39) |
L237Q |
probably damaging |
Het |
| Or4k42 |
A |
T |
2: 111,320,095 (GRCm39) |
M136K |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,484 (GRCm39) |
V173A |
possibly damaging |
Het |
| Or8g22 |
T |
A |
9: 38,958,671 (GRCm39) |
M15L |
possibly damaging |
Het |
| Paqr3 |
A |
C |
5: 97,256,128 (GRCm39) |
L82R |
probably damaging |
Het |
| Pex6 |
C |
T |
17: 47,031,567 (GRCm39) |
P456S |
probably benign |
Het |
| Pih1d2 |
A |
T |
9: 50,532,452 (GRCm39) |
K186I |
possibly damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,061,013 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,812,142 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
T |
A |
17: 26,429,439 (GRCm39) |
Y403* |
probably null |
Het |
| Scn10a |
T |
C |
9: 119,464,649 (GRCm39) |
N984D |
probably benign |
Het |
| Snx14 |
C |
T |
9: 88,289,392 (GRCm39) |
A287T |
possibly damaging |
Het |
| Stx3 |
T |
C |
19: 11,780,874 (GRCm39) |
D33G |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,227,494 (GRCm39) |
K1393R |
probably damaging |
Het |
| Tas2r129 |
T |
C |
6: 132,928,455 (GRCm39) |
S131P |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,220,431 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,700,795 (GRCm39) |
V1237A |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,888,589 (GRCm39) |
Y1735H |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,495,780 (GRCm39) |
K378R |
probably benign |
Het |
| Tubg2 |
A |
G |
11: 101,051,635 (GRCm39) |
K287E |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,310,762 (GRCm39) |
I348T |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,651,409 (GRCm39) |
I1585F |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,909 (GRCm39) |
Y407C |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,447 (GRCm39) |
L136F |
probably benign |
Het |
| Vmn2r38 |
A |
G |
7: 9,097,611 (GRCm39) |
S161P |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,606 (GRCm39) |
I590T |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,217,248 (GRCm39) |
E323G |
probably damaging |
Het |
| Wdhd1 |
C |
T |
14: 47,505,653 (GRCm39) |
G273D |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,708,016 (GRCm39) |
Q851K |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,173,281 (GRCm39) |
C274R |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,768,088 (GRCm39) |
I508T |
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 |
|
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 |
|
|
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'- CTTGAGATGGGCCTGGATAGAG -3'
(R):5'- TATAGGGACCAAGCAGCACCTC -3'
Sequencing Primer
(F):5'- GTCCCAAGACACCAGGCTGAG -3'
(R):5'- AGCAGCACCTCACTGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation