Incidental Mutation 'R6039:Ptprr'
ID |
486751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprr
|
Ensembl Gene |
ENSMUSG00000020151 |
Gene Name |
protein tyrosine phosphatase receptor type R |
Synonyms |
PTP-SL, PTPBR7, RPTPRR |
MMRRC Submission |
043259-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R6039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 116072668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000105271]
[ENSMUST00000128399]
[ENSMUST00000148731]
[ENSMUST00000148731]
[ENSMUST00000155606]
|
AlphaFold |
Q62132 |
Predicted Effect |
probably null
Transcript: ENSMUST00000063470
|
SMART Domains |
Protein: ENSMUSP00000064392 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
PTPc
|
391 |
648 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105271
|
SMART Domains |
Protein: ENSMUSP00000100907 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
PTPc
|
284 |
541 |
3.74e-108 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124369
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128399
|
SMART Domains |
Protein: ENSMUSP00000114455 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148731
|
SMART Domains |
Protein: ENSMUSP00000120965 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148731
|
SMART Domains |
Protein: ENSMUSP00000120965 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155606
|
SMART Domains |
Protein: ENSMUSP00000122259 Gene: ENSMUSG00000020151
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
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 possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
Gm19410 |
C |
G |
8: 36,276,518 (GRCm39) |
A1725G |
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
Sf3a2 |
A |
G |
10: 80,637,297 (GRCm39) |
Y45C |
probably damaging |
Het |
Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
Slc38a9 |
A |
T |
13: 112,806,231 (GRCm39) |
I26F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,436 (GRCm39) |
I90V |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,783,291 (GRCm39) |
S997P |
possibly damaging |
Het |
Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
Het |
|
Other mutations in Ptprr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:Ptprr
|
APN |
10 |
116,024,222 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01762:Ptprr
|
APN |
10 |
116,072,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02429:Ptprr
|
APN |
10 |
116,109,672 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03396:Ptprr
|
APN |
10 |
116,024,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R0268:Ptprr
|
UTSW |
10 |
116,088,868 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0584:Ptprr
|
UTSW |
10 |
116,087,063 (GRCm39) |
missense |
probably damaging |
0.96 |
R1388:Ptprr
|
UTSW |
10 |
116,109,657 (GRCm39) |
missense |
probably benign |
0.14 |
R1438:Ptprr
|
UTSW |
10 |
116,092,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R1533:Ptprr
|
UTSW |
10 |
116,024,113 (GRCm39) |
nonsense |
probably null |
|
R1654:Ptprr
|
UTSW |
10 |
116,024,268 (GRCm39) |
missense |
probably benign |
0.43 |
R1793:Ptprr
|
UTSW |
10 |
116,088,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R4081:Ptprr
|
UTSW |
10 |
116,072,615 (GRCm39) |
missense |
probably benign |
0.01 |
R4193:Ptprr
|
UTSW |
10 |
116,088,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R4254:Ptprr
|
UTSW |
10 |
115,998,348 (GRCm39) |
splice site |
probably null |
|
R4496:Ptprr
|
UTSW |
10 |
116,065,407 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4799:Ptprr
|
UTSW |
10 |
115,884,123 (GRCm39) |
missense |
probably benign |
0.00 |
R5209:Ptprr
|
UTSW |
10 |
115,998,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R5312:Ptprr
|
UTSW |
10 |
116,024,324 (GRCm39) |
missense |
probably benign |
0.28 |
R5410:Ptprr
|
UTSW |
10 |
116,024,235 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5556:Ptprr
|
UTSW |
10 |
116,087,054 (GRCm39) |
missense |
probably damaging |
0.96 |
R5717:Ptprr
|
UTSW |
10 |
115,884,018 (GRCm39) |
missense |
probably benign |
0.11 |
R6039:Ptprr
|
UTSW |
10 |
116,072,668 (GRCm39) |
splice site |
probably null |
|
R7013:Ptprr
|
UTSW |
10 |
116,072,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R7401:Ptprr
|
UTSW |
10 |
115,884,141 (GRCm39) |
missense |
probably benign |
|
R7527:Ptprr
|
UTSW |
10 |
116,087,104 (GRCm39) |
missense |
probably benign |
0.08 |
R7644:Ptprr
|
UTSW |
10 |
115,884,133 (GRCm39) |
missense |
probably benign |
0.00 |
R7651:Ptprr
|
UTSW |
10 |
116,087,084 (GRCm39) |
missense |
probably benign |
0.01 |
R7708:Ptprr
|
UTSW |
10 |
115,998,502 (GRCm39) |
missense |
probably benign |
0.31 |
R7731:Ptprr
|
UTSW |
10 |
116,073,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Ptprr
|
UTSW |
10 |
115,884,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8261:Ptprr
|
UTSW |
10 |
116,073,169 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8358:Ptprr
|
UTSW |
10 |
115,884,180 (GRCm39) |
missense |
probably benign |
0.25 |
R8387:Ptprr
|
UTSW |
10 |
116,087,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8894:Ptprr
|
UTSW |
10 |
115,884,250 (GRCm39) |
missense |
probably benign |
0.00 |
R9142:Ptprr
|
UTSW |
10 |
116,024,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9375:Ptprr
|
UTSW |
10 |
116,109,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACACTGGGTGAATAGCCTTG -3'
(R):5'- CATATTGCCAGTGTGGTTGAGAC -3'
Sequencing Primer
(F):5'- CTGGGTGAATAGCCTTGAACATACAC -3'
(R):5'- GCCAGTGTGGTTGAGACTATAAC -3'
|
Posted On |
2017-08-16 |