Incidental Mutation 'R4496:Ptprr'
| ID |
330984 |
| 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 |
041749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R4496 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116065407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 160
(V160E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000105271]
[ENSMUST00000128399]
[ENSMUST00000148731]
[ENSMUST00000155606]
|
| AlphaFold |
Q62132 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063470
AA Change: V404E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: V404E
| 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 benign
Transcript: ENSMUST00000105271
AA Change: V297E
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: V297E
| 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 |
possibly damaging
Transcript: ENSMUST00000128399
AA Change: V160E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114455
Gene: ENSMUSG00000020151
AA Change: V160E
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148731
AA Change: V160E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120965
Gene: ENSMUSG00000020151
AA Change: V160E
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155606
AA Change: V160E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122259
Gene: ENSMUSG00000020151
AA Change: V160E
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Meta Mutation Damage Score |
0.2712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
| Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
| Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
| Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
| Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
| Ndst4 |
C |
A |
3: 125,476,922 (GRCm39) |
A49D |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
| Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,900,395 (GRCm39) |
E634G |
probably damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,517,040 (GRCm39) |
I107K |
probably damaging |
Het |
| Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
| Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,676 (GRCm39) |
D41G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
| Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
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 |
|
|
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 |
|
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'- TACAGGGCTGTTTCTTAGACATTAG -3'
(R):5'- GACGCCTAGTCTCGACATATATTTC -3'
Sequencing Primer
(F):5'- GCTGTTTCTTAGACATTAGCTTAACC -3'
(R):5'- CCTAGTCTCGACATATATTTCAACTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation