Incidental Mutation 'R7578:Ptpn23'
ID |
586590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn23
|
Ensembl Gene |
ENSMUSG00000036057 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
Synonyms |
PTP-TD14 |
MMRRC Submission |
045663-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7578 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110216676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1060
(Q1060L)
|
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 benign
Transcript: ENSMUST00000040021
AA Change: Q1060L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039580 Gene: ENSMUSG00000036057 AA Change: Q1060L
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 |
probably benign
Transcript: ENSMUST00000200531
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (66/68) |
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 |
1700001J03Rik |
A |
T |
5: 146,120,343 (GRCm39) |
V165E |
probably damaging |
Het |
1700025G04Rik |
T |
G |
1: 151,796,841 (GRCm39) |
T75P |
probably benign |
Het |
4930516K23Rik |
T |
C |
7: 103,708,104 (GRCm39) |
E235G |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,251,499 (GRCm39) |
C449R |
probably damaging |
Het |
Adam24 |
T |
C |
8: 41,133,294 (GRCm39) |
V254A |
probably benign |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Aldh1a1 |
A |
C |
19: 20,595,366 (GRCm39) |
R98S |
probably damaging |
Het |
Alg9 |
A |
G |
9: 50,700,835 (GRCm39) |
I202V |
probably benign |
Het |
Anks1b |
G |
A |
10: 89,885,789 (GRCm39) |
E162K |
probably damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,556,128 (GRCm39) |
T268A |
probably benign |
Het |
Atxn1 |
C |
T |
13: 45,720,834 (GRCm39) |
V354I |
probably benign |
Het |
B3galt1 |
A |
G |
2: 67,948,896 (GRCm39) |
T204A |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,554,544 (GRCm39) |
I746K |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,243,186 (GRCm39) |
T1063M |
probably benign |
Het |
Cherp |
G |
A |
8: 73,218,102 (GRCm39) |
R543C |
|
Het |
Cldn20 |
A |
G |
17: 3,583,274 (GRCm39) |
D149G |
probably damaging |
Het |
Clk2 |
A |
G |
3: 89,083,807 (GRCm39) |
Q474R |
probably benign |
Het |
Cp |
A |
G |
3: 20,043,262 (GRCm39) |
T1017A |
possibly damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,499,400 (GRCm39) |
L29P |
probably damaging |
Het |
Ebf3 |
C |
T |
7: 136,915,261 (GRCm39) |
V93M |
probably damaging |
Het |
Eef1akmt1 |
T |
A |
14: 57,787,328 (GRCm39) |
M183L |
probably damaging |
Het |
Fhip1a |
G |
T |
3: 85,573,205 (GRCm39) |
L915I |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,333,645 (GRCm39) |
E146G |
probably damaging |
Het |
Fpr-rs3 |
T |
C |
17: 20,844,293 (GRCm39) |
S283G |
possibly damaging |
Het |
Fras1 |
A |
T |
5: 96,832,296 (GRCm39) |
Y1543F |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,762,275 (GRCm39) |
|
probably null |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gjd3 |
A |
G |
11: 98,873,301 (GRCm39) |
V181A |
probably damaging |
Het |
Gm49368 |
T |
A |
7: 127,711,430 (GRCm39) |
C711* |
probably null |
Het |
Gtf3c2 |
A |
G |
5: 31,330,341 (GRCm39) |
S210P |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,784,548 (GRCm39) |
Y1404C |
probably benign |
Het |
Il22ra2 |
T |
A |
10: 19,507,372 (GRCm39) |
D128E |
probably benign |
Het |
Itgav |
T |
A |
2: 83,578,219 (GRCm39) |
D113E |
probably benign |
Het |
Kcnd3 |
A |
G |
3: 105,366,933 (GRCm39) |
M268V |
probably benign |
Het |
Kirrel3 |
G |
T |
9: 34,850,408 (GRCm39) |
G19V |
probably damaging |
Het |
Klf17 |
T |
G |
4: 117,617,916 (GRCm39) |
Y147S |
possibly damaging |
Het |
Leng1 |
C |
T |
7: 3,668,382 (GRCm39) |
R22H |
probably damaging |
Het |
Lysmd4 |
T |
A |
7: 66,876,037 (GRCm39) |
Y233* |
probably null |
Het |
Lyzl6 |
A |
G |
11: 103,525,832 (GRCm39) |
V96A |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,302,644 (GRCm39) |
T797A |
possibly damaging |
Het |
Nuf2 |
G |
T |
1: 169,332,097 (GRCm39) |
H399Q |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,885,623 (GRCm39) |
V766A |
probably damaging |
Het |
Oas1c |
A |
T |
5: 120,940,244 (GRCm39) |
D307E |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
Or10aa3 |
T |
A |
1: 173,878,266 (GRCm39) |
M109K |
possibly damaging |
Het |
Or6c5b |
T |
C |
10: 129,245,544 (GRCm39) |
I103T |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,943,121 (GRCm39) |
Y169H |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,417,585 (GRCm39) |
D2522G |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,388,271 (GRCm39) |
D433G |
probably benign |
Het |
Ptcd3 |
A |
G |
6: 71,885,691 (GRCm39) |
S12P |
probably benign |
Het |
Rai14 |
G |
T |
15: 10,574,914 (GRCm39) |
N710K |
probably benign |
Het |
Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Satb2 |
A |
G |
1: 56,910,943 (GRCm39) |
V234A |
probably benign |
Het |
Scg2 |
T |
C |
1: 79,414,612 (GRCm39) |
Q37R |
probably damaging |
Het |
Slc35e3 |
A |
T |
10: 117,576,484 (GRCm39) |
S230T |
probably damaging |
Het |
Slc39a2 |
T |
C |
14: 52,132,873 (GRCm39) |
V272A |
probably damaging |
Het |
Smg7 |
T |
A |
1: 152,721,181 (GRCm39) |
Y677F |
probably damaging |
Het |
Spinkl |
A |
G |
18: 44,301,213 (GRCm39) |
Y42H |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,774,782 (GRCm39) |
F102L |
probably benign |
Het |
Sstr3 |
T |
C |
15: 78,424,717 (GRCm39) |
E10G |
probably benign |
Het |
Tekt3 |
A |
T |
11: 62,985,486 (GRCm39) |
I431F |
probably damaging |
Het |
Trio |
C |
T |
15: 27,855,025 (GRCm39) |
R778H |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,282,110 (GRCm39) |
V1875D |
probably damaging |
Het |
Vmn2r29 |
A |
C |
7: 7,234,441 (GRCm39) |
I815S |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,603,552 (GRCm39) |
K577* |
probably null |
Het |
Vps26c |
A |
C |
16: 94,299,928 (GRCm39) |
N275K |
probably damaging |
Het |
Yes1 |
G |
A |
5: 32,802,430 (GRCm39) |
R115Q |
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 |
|
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 |
|
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'- TCTTGAAGGTACTGGGCCAG -3'
(R):5'- ACAGCATCAGTTTCCTCCTG -3'
Sequencing Primer
(F):5'- TTGCCTGAGGACCAAGGG -3'
(R):5'- GATCCCCACAGGCTTTCCAG -3'
|
Posted On |
2019-10-24 |