Incidental Mutation 'R8358:Ptprr'
ID |
645872 |
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 |
067871-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R8358 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115884180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 79
(I79T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
|
AlphaFold |
Q62132 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063470
AA Change: I79T
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000064392 Gene: ENSMUSG00000020151 AA Change: I79T
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 |
|
Meta Mutation Damage Score |
0.0754 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (49/49) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,510,651 (GRCm39) |
V228A |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,544,449 (GRCm39) |
L46* |
probably null |
Het |
Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
Oasl1 |
T |
A |
5: 115,075,465 (GRCm39) |
F508L |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
Psg23 |
T |
C |
7: 18,348,522 (GRCm39) |
D95G |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
Trim54 |
A |
G |
5: 31,294,338 (GRCm39) |
T325A |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
probably 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 |
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 |
|
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 |
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'- ATGTAGCAGAAGATGGCCTAGTAC -3'
(R):5'- GGGGAACATCAGCACTAGTG -3'
Sequencing Primer
(F):5'- TCTTGTAGGTTGTTTTTCCAGAAAC -3'
(R):5'- TAGTGCTAACATCAGCCTCAG -3'
|
Posted On |
2020-09-02 |