Incidental Mutation 'R5556:Ptprr'
ID |
435400 |
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 |
043113-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R5556 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116087054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 267
(Y267C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000105271]
[ENSMUST00000128399]
[ENSMUST00000148731]
[ENSMUST00000155606]
|
AlphaFold |
Q62132 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063470
AA Change: Y511C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000064392 Gene: ENSMUSG00000020151 AA Change: Y511C
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 |
possibly damaging
Transcript: ENSMUST00000105271
AA Change: Y404C
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000100907 Gene: ENSMUSG00000020151 AA Change: Y404C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
PTPc
|
284 |
541 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128399
AA Change: Y267C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000114455 Gene: ENSMUSG00000020151 AA Change: Y267C
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148731
AA Change: Y267C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120965 Gene: ENSMUSG00000020151 AA Change: Y267C
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155606
AA Change: Y267C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122259 Gene: ENSMUSG00000020151 AA Change: Y267C
Domain | Start | End | E-Value | Type |
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
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 |
4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
Cdk11b |
C |
T |
4: 155,718,604 (GRCm39) |
Q185* |
probably null |
Het |
Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
Cherp |
C |
G |
8: 73,221,824 (GRCm39) |
Q313H |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
Pcare |
T |
C |
17: 72,059,420 (GRCm39) |
K86E |
possibly damaging |
Het |
Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
Plekha7 |
G |
A |
7: 115,763,384 (GRCm39) |
T406I |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
probably benign |
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 |
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'- CTGGTCTGCACATCATAGAGTTC -3'
(R):5'- CAACAAGGGACGTCGATAGC -3'
Sequencing Primer
(F):5'- TGCACATCATAGAGTTCACCTC -3'
(R):5'- AAGGGACGTCGATAGCTTGCC -3'
|
Posted On |
2016-10-24 |