Incidental Mutation 'R5209:Ptprr'
| ID |
470593 |
| 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 |
042784-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5209 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115998514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 208
(E208V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000105271]
|
| AlphaFold |
Q62132 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063470
AA Change: E208V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: E208V
| 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 damaging
Transcript: ENSMUST00000105271
AA Change: E101V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: E101V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
|
PTPc
|
284 |
541 |
3.74e-108 |
SMART |
|
| Meta Mutation Damage Score |
0.0861 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,130 (GRCm39) |
V500A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Adgb |
C |
A |
10: 10,274,681 (GRCm39) |
V759L |
possibly damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,292,563 (GRCm39) |
K243* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 103,040,015 (GRCm39) |
D317E |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,634 (GRCm39) |
I462F |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Btbd18 |
A |
G |
2: 84,498,443 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ces1d |
A |
T |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Chmp2a |
C |
A |
7: 12,766,601 (GRCm39) |
V106F |
probably damaging |
Het |
| Cinp |
T |
C |
12: 110,840,494 (GRCm39) |
E219G |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,689,939 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,345,667 (GRCm39) |
S2271A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 77,994,497 (GRCm39) |
L376H |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,442 (GRCm39) |
T17A |
probably benign |
Het |
| Fgd2 |
T |
A |
17: 29,587,350 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
C |
T |
5: 137,955,533 (GRCm39) |
V251I |
probably benign |
Het |
| Gnaz |
T |
G |
10: 74,827,823 (GRCm39) |
F192V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
G |
T |
2: 25,456,935 (GRCm39) |
A614E |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,490 (GRCm39) |
Q713L |
probably damaging |
Het |
| Mettl1 |
T |
C |
10: 126,881,203 (GRCm39) |
V238A |
possibly damaging |
Het |
| Ms4a4c |
G |
A |
19: 11,393,802 (GRCm39) |
G74E |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,230,736 (GRCm39) |
Y113* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,742,995 (GRCm39) |
L1169P |
possibly damaging |
Het |
| Npr3 |
A |
G |
15: 11,848,689 (GRCm39) |
V426A |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,693,721 (GRCm39) |
S88P |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,410 (GRCm39) |
T53A |
probably benign |
Het |
| Or6c202 |
A |
C |
10: 128,996,801 (GRCm39) |
D17E |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,817 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,514 (GRCm39) |
F768S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,166,000 (GRCm39) |
N2077S |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,783,181 (GRCm39) |
P713L |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,043,295 (GRCm39) |
T333A |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,856 (GRCm39) |
T510S |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,474,560 (GRCm39) |
Y194C |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,490,293 (GRCm39) |
|
probably null |
Het |
| Rexo5 |
T |
A |
7: 119,433,522 (GRCm39) |
Y493* |
probably null |
Het |
| Rgs9 |
T |
C |
11: 109,130,420 (GRCm39) |
|
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,593,129 (GRCm39) |
V218D |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,116,235 (GRCm39) |
M16K |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,170,459 (GRCm39) |
F395S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,652 (GRCm39) |
T4453A |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,483 (GRCm39) |
I82F |
probably benign |
Het |
| Stam |
T |
A |
2: 14,151,158 (GRCm39) |
I505K |
probably benign |
Het |
| Tesk2 |
G |
A |
4: 116,581,895 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,793 (GRCm39) |
K430R |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,387,740 (GRCm39) |
N34D |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,279,350 (GRCm39) |
C686F |
probably damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,279 (GRCm39) |
T60I |
probably damaging |
Het |
| Zfp652 |
G |
C |
11: 95,654,491 (GRCm39) |
R478P |
possibly damaging |
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 |
|
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 |
|
|
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'- GAACAGGCGAAAACTTTACCCG -3'
(R):5'- AAGCTGAAGTGGACTGGATTCTG -3'
Sequencing Primer
(F):5'- TTTACCCGACTCCTGAAAGATG -3'
(R):5'- AGCATGTGGTGCTAACTG -3'
|
| Posted On |
2017-03-20 |
Incidental Mutation