Incidental Mutation 'IGL02429:Ptprr'
| ID |
293027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptprr
|
| Ensembl Gene |
ENSMUSG00000020151 |
| Gene Name |
protein tyrosine phosphatase receptor type R |
| Synonyms |
PTP-SL, PTPBR7, RPTPRR |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
IGL02429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115854118-116110837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116109672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 394
(F394I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000105271]
[ENSMUST00000128399]
[ENSMUST00000148731]
[ENSMUST00000155606]
[ENSMUST00000218553]
|
| AlphaFold |
Q62132 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063470
AA Change: F638I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: F638I
| 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: F531I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: F531I
| 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: F394I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114455
Gene: ENSMUSG00000020151
AA Change: F394I
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148731
AA Change: F394I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120965
Gene: ENSMUSG00000020151
AA Change: F394I
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155606
AA Change: F394I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122259
Gene: ENSMUSG00000020151
AA Change: F394I
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
147 |
404 |
3.74e-108 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218601
|
| Coding Region Coverage |
|
| 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 |
|---|
| Acmsd |
A |
T |
1: 127,687,453 (GRCm39) |
D245V |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,935,289 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
A |
G |
X: 48,583,583 (GRCm39) |
D77G |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,589 (GRCm39) |
M187K |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,407,548 (GRCm39) |
V2145A |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,030,989 (GRCm39) |
N178S |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,767,732 (GRCm39) |
T110A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,641,770 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,533,896 (GRCm39) |
L493S |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,261,266 (GRCm39) |
T72M |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,521,730 (GRCm39) |
|
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,302,390 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,837,240 (GRCm39) |
M397T |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,742,468 (GRCm39) |
T306A |
probably benign |
Het |
| Gtf2a1l |
G |
T |
17: 88,976,141 (GRCm39) |
M1I |
probably null |
Het |
| Hdac4 |
A |
G |
1: 91,940,417 (GRCm39) |
L154P |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,231,720 (GRCm39) |
C422S |
probably damaging |
Het |
| Kng2 |
T |
A |
16: 22,830,829 (GRCm39) |
K160I |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,755,130 (GRCm39) |
A136S |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,855,193 (GRCm39) |
I402T |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,956,237 (GRCm39) |
H509R |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,039,334 (GRCm39) |
K782E |
probably damaging |
Het |
| Mvb12b |
G |
A |
2: 33,717,800 (GRCm39) |
R114W |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,149,808 (GRCm39) |
K1818* |
probably null |
Het |
| Myo1h |
C |
T |
5: 114,497,799 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,598 (GRCm39) |
S1402T |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,516 (GRCm39) |
N71S |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,940,133 (GRCm39) |
M344I |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,138 (GRCm39) |
F11I |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,612,247 (GRCm39) |
L1019P |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,718,453 (GRCm39) |
E494G |
probably benign |
Het |
| Pole |
T |
C |
5: 110,447,666 (GRCm39) |
I734T |
probably benign |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,769 (GRCm39) |
S203P |
probably benign |
Het |
| Pth2r |
G |
T |
1: 65,385,998 (GRCm39) |
M240I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,239,329 (GRCm39) |
S265P |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,815 (GRCm39) |
D353G |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,574,596 (GRCm39) |
Y8H |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,118,187 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
A |
T |
4: 13,865,294 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
A |
17: 31,519,483 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,025,714 (GRCm39) |
|
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,397,342 (GRCm39) |
V328A |
probably benign |
Het |
| Slf2 |
T |
C |
19: 44,930,167 (GRCm39) |
S415P |
probably benign |
Het |
| Spata17 |
C |
A |
1: 186,872,631 (GRCm39) |
R60L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,118,369 (GRCm39) |
D2237E |
probably benign |
Het |
| Swap70 |
T |
A |
7: 109,863,179 (GRCm39) |
N169K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,443 (GRCm39) |
D505G |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,839,115 (GRCm39) |
V70A |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,899 (GRCm39) |
V165E |
probably benign |
Het |
| Trpc5 |
T |
C |
X: 143,194,795 (GRCm39) |
E570G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,460,279 (GRCm39) |
N601S |
probably benign |
Het |
| Vmn2r30 |
C |
T |
7: 7,337,243 (GRCm39) |
C131Y |
possibly damaging |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,551 (GRCm39) |
I221V |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,150,596 (GRCm39) |
V481E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation