Incidental Mutation 'R2048:Ptpn21'
| ID |
222259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn21
|
| Ensembl Gene |
ENSMUSG00000021009 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 21 |
| Synonyms |
PTPRL10, PTPD1 |
| MMRRC Submission |
040055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R2048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98643000-98703664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98655785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 394
(V394A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085116]
[ENSMUST00000170188]
[ENSMUST00000221148]
[ENSMUST00000221535]
[ENSMUST00000221932]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085116
AA Change: V394A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: V394A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
19 |
222 |
5.04e-69 |
SMART |
|
FERM_C
|
226 |
312 |
4.66e-26 |
SMART |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
724 |
N/A |
INTRINSIC |
|
PTPc
|
897 |
1171 |
7.31e-111 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170188
AA Change: V394A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: V394A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
19 |
222 |
5.04e-69 |
SMART |
|
FERM_C
|
226 |
312 |
4.66e-26 |
SMART |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
724 |
N/A |
INTRINSIC |
|
PTPc
|
897 |
1171 |
7.31e-111 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221148
AA Change: S366P
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221535
AA Change: V394A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221932
AA Change: V394A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0859 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
| Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
| Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
| Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
| Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
| Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
| Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
| Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
| Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
| Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
| Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
| Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
| Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly damaging |
Het |
|
| Other mutations in Ptpn21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Ptpn21
|
APN |
12 |
98,646,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Ptpn21
|
APN |
12 |
98,699,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00577:Ptpn21
|
APN |
12 |
98,699,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00580:Ptpn21
|
APN |
12 |
98,699,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00583:Ptpn21
|
APN |
12 |
98,699,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00773:Ptpn21
|
APN |
12 |
98,654,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00780:Ptpn21
|
APN |
12 |
98,646,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Ptpn21
|
APN |
12 |
98,681,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01616:Ptpn21
|
APN |
12 |
98,646,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Ptpn21
|
APN |
12 |
98,655,420 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02237:Ptpn21
|
APN |
12 |
98,671,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02512:Ptpn21
|
APN |
12 |
98,645,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02852:Ptpn21
|
APN |
12 |
98,681,454 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Ptpn21
|
APN |
12 |
98,655,891 (GRCm39) |
splice site |
probably benign |
|
|
IGL03024:Ptpn21
|
APN |
12 |
98,646,315 (GRCm39) |
missense |
probably benign |
|
|
IGL03220:Ptpn21
|
APN |
12 |
98,644,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Ptpn21
|
UTSW |
12 |
98,654,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0472:Ptpn21
|
UTSW |
12 |
98,670,499 (GRCm39) |
splice site |
probably benign |
|
|
R0675:Ptpn21
|
UTSW |
12 |
98,654,475 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0771:Ptpn21
|
UTSW |
12 |
98,655,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Ptpn21
|
UTSW |
12 |
98,654,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ptpn21
|
UTSW |
12 |
98,654,735 (GRCm39) |
missense |
probably benign |
|
|
R1470:Ptpn21
|
UTSW |
12 |
98,654,735 (GRCm39) |
missense |
probably benign |
|
|
R1837:Ptpn21
|
UTSW |
12 |
98,699,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1897:Ptpn21
|
UTSW |
12 |
98,646,664 (GRCm39) |
splice site |
probably null |
|
|
R2376:Ptpn21
|
UTSW |
12 |
98,654,573 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3709:Ptpn21
|
UTSW |
12 |
98,654,800 (GRCm39) |
missense |
probably benign |
|
|
R4197:Ptpn21
|
UTSW |
12 |
98,646,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4283:Ptpn21
|
UTSW |
12 |
98,699,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4368:Ptpn21
|
UTSW |
12 |
98,644,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Ptpn21
|
UTSW |
12 |
98,681,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4397:Ptpn21
|
UTSW |
12 |
98,654,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Ptpn21
|
UTSW |
12 |
98,645,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Ptpn21
|
UTSW |
12 |
98,675,103 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4829:Ptpn21
|
UTSW |
12 |
98,655,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Ptpn21
|
UTSW |
12 |
98,681,454 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4974:Ptpn21
|
UTSW |
12 |
98,646,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Ptpn21
|
UTSW |
12 |
98,645,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Ptpn21
|
UTSW |
12 |
98,645,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Ptpn21
|
UTSW |
12 |
98,681,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Ptpn21
|
UTSW |
12 |
98,655,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5741:Ptpn21
|
UTSW |
12 |
98,645,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Ptpn21
|
UTSW |
12 |
98,648,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5959:Ptpn21
|
UTSW |
12 |
98,675,148 (GRCm39) |
splice site |
probably null |
|
|
R5968:Ptpn21
|
UTSW |
12 |
98,677,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Ptpn21
|
UTSW |
12 |
98,655,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Ptpn21
|
UTSW |
12 |
98,644,811 (GRCm39) |
makesense |
probably null |
|
|
R6181:Ptpn21
|
UTSW |
12 |
98,666,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6226:Ptpn21
|
UTSW |
12 |
98,681,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Ptpn21
|
UTSW |
12 |
98,646,375 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6317:Ptpn21
|
UTSW |
12 |
98,655,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Ptpn21
|
UTSW |
12 |
98,655,293 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6485:Ptpn21
|
UTSW |
12 |
98,665,131 (GRCm39) |
nonsense |
probably null |
|
|
R6894:Ptpn21
|
UTSW |
12 |
98,681,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Ptpn21
|
UTSW |
12 |
98,655,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7232:Ptpn21
|
UTSW |
12 |
98,654,996 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7289:Ptpn21
|
UTSW |
12 |
98,670,450 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7327:Ptpn21
|
UTSW |
12 |
98,646,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Ptpn21
|
UTSW |
12 |
98,703,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7748:Ptpn21
|
UTSW |
12 |
98,655,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7816:Ptpn21
|
UTSW |
12 |
98,648,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Ptpn21
|
UTSW |
12 |
98,671,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Ptpn21
|
UTSW |
12 |
98,681,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Ptpn21
|
UTSW |
12 |
98,655,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8100:Ptpn21
|
UTSW |
12 |
98,648,881 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8199:Ptpn21
|
UTSW |
12 |
98,644,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8272:Ptpn21
|
UTSW |
12 |
98,654,789 (GRCm39) |
missense |
probably benign |
|
|
R8481:Ptpn21
|
UTSW |
12 |
98,655,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8535:Ptpn21
|
UTSW |
12 |
98,646,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8775:Ptpn21
|
UTSW |
12 |
98,649,001 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8775-TAIL:Ptpn21
|
UTSW |
12 |
98,649,001 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8929:Ptpn21
|
UTSW |
12 |
98,655,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8969:Ptpn21
|
UTSW |
12 |
98,655,284 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9189:Ptpn21
|
UTSW |
12 |
98,655,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Ptpn21
|
UTSW |
12 |
98,655,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ptpn21
|
UTSW |
12 |
98,654,717 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTGCTTCATCACGGTC -3'
(R):5'- AGAAAATTTACAAGCTCTCTCAGGG -3'
Sequencing Primer
(F):5'- CGGTCTCGTAGTCAGGGGTC -3'
(R):5'- CAGGGCCATCTCAGTATTTGGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation