Incidental Mutation 'R9404:Ptpn23'
| ID |
711416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn23
|
| Ensembl Gene |
ENSMUSG00000036057 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 23 |
| Synonyms |
PTP-TD14 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110214152-110237278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110216025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1277
(N1277S)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: N1277S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,615,509 (GRCm39) |
K314R |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,005,064 (GRCm39) |
V1167A |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,557 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,254 (GRCm39) |
L73Q |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,914 (GRCm39) |
E274G |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,194,178 (GRCm39) |
V845A |
possibly damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,258 (GRCm39) |
T310A |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,022,940 (GRCm39) |
M388T |
unknown |
Het |
| Fat2 |
A |
G |
11: 55,144,348 (GRCm39) |
|
probably null |
Het |
| Gm8225 |
T |
A |
17: 26,762,034 (GRCm39) |
I75N |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,474,919 (GRCm39) |
Y526C |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,131,859 (GRCm39) |
I203F |
possibly damaging |
Het |
| Insl5 |
T |
C |
4: 102,875,535 (GRCm39) |
R72G |
probably benign |
Het |
| Iqcb1 |
T |
C |
16: 36,671,632 (GRCm39) |
V321A |
probably damaging |
Het |
| Iqcd |
A |
C |
5: 120,738,601 (GRCm39) |
T140P |
|
Het |
| Kcnt2 |
T |
A |
1: 140,353,107 (GRCm39) |
I272K |
probably damaging |
Het |
| Klhl25 |
A |
C |
7: 75,515,153 (GRCm39) |
I20L |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrba |
T |
C |
3: 86,205,224 (GRCm39) |
V356A |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,887,933 (GRCm39) |
Y1159H |
probably damaging |
Het |
| Mavs |
T |
A |
2: 131,083,818 (GRCm39) |
L105Q |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,348,225 (GRCm39) |
C902S |
|
Het |
| Mmp17 |
A |
G |
5: 129,682,741 (GRCm39) |
D460G |
possibly damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,454 (GRCm39) |
A466S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,147,788 (GRCm39) |
N2744D |
probably damaging |
Het |
| Oga |
CTCGGGTC |
CTC |
19: 45,743,096 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
A |
7: 140,284,722 (GRCm39) |
L186H |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,750 (GRCm39) |
V195A |
probably benign |
Het |
| Or2aj4 |
C |
T |
16: 19,384,731 (GRCm39) |
V301M |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,551 (GRCm39) |
M131L |
probably benign |
Het |
| Or6d13 |
T |
G |
6: 116,517,708 (GRCm39) |
I98S |
probably damaging |
Het |
| Or8g55 |
A |
T |
9: 39,784,708 (GRCm39) |
I46F |
possibly damaging |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Pax5 |
G |
A |
4: 44,645,565 (GRCm39) |
P255S |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,067 (GRCm39) |
T304A |
probably benign |
Het |
| Pcsk1 |
T |
G |
13: 75,280,342 (GRCm39) |
S722R |
probably benign |
Het |
| Pcsk9 |
C |
A |
4: 106,311,723 (GRCm39) |
R218L |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,776,307 (GRCm39) |
I96F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,703,270 (GRCm39) |
V889L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,878,468 (GRCm39) |
|
probably null |
Het |
| Pnn |
A |
G |
12: 59,118,758 (GRCm39) |
E447G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,025,840 (GRCm39) |
L289P |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,152,753 (GRCm39) |
H298R |
probably benign |
Het |
| Pus10 |
T |
A |
11: 23,661,202 (GRCm39) |
F263L |
possibly damaging |
Het |
| Rexo5 |
A |
G |
7: 119,400,542 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,382,615 (GRCm39) |
C23* |
probably null |
Het |
| Runx1 |
T |
C |
16: 92,485,915 (GRCm39) |
N140D |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Scn9a |
G |
A |
2: 66,357,040 (GRCm39) |
T1087I |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TC |
TCAGCCACGGGGACCAGCCC |
7: 126,066,771 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,335,488 (GRCm39) |
H350R |
possibly damaging |
Het |
| Spaca6 |
T |
C |
17: 18,057,800 (GRCm39) |
C155R |
probably damaging |
Het |
| Spire2 |
C |
T |
8: 124,090,077 (GRCm39) |
R580* |
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,706,616 (GRCm39) |
M851K |
probably benign |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tlcd4 |
T |
C |
3: 121,028,731 (GRCm39) |
N52S |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,296 (GRCm39) |
T236A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,752,225 (GRCm39) |
C1709R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,584,500 (GRCm39) |
S22203T |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,947,701 (GRCm39) |
N873K |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,763 (GRCm39) |
T701A |
probably damaging |
Het |
| Ufl1 |
T |
C |
4: 25,275,912 (GRCm39) |
I164V |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,856 (GRCm39) |
T176A |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,513,626 (GRCm39) |
D493E |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,247 (GRCm39) |
W378R |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,876,565 (GRCm39) |
T2799S |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,426,927 (GRCm39) |
S1337P |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,839,862 (GRCm39) |
I94F |
possibly damaging |
Het |
| Zfp3 |
A |
G |
11: 70,663,366 (GRCm39) |
K442E |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,185,104 (GRCm39) |
I356F |
possibly damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,185 (GRCm39) |
G68S |
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 |
|
|
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 |
|
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'- ACCATGAGCCAGAAATCTGCAG -3'
(R):5'- TACCAAGGTAGATGCAGCTG -3'
Sequencing Primer
(F):5'- GCCAGAAATCTGCAGCTGTG -3'
(R):5'- CTAATTGAGCAGGACCCCTATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation