Incidental Mutation 'IGL02073:Ptpra'
ID |
185907 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptpra
|
Ensembl Gene |
ENSMUSG00000027303 |
Gene Name |
protein tyrosine phosphatase receptor type A |
Synonyms |
PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02073
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
130292198-130396220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30333362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 64
(S64P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109231
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042055]
[ENSMUST00000113601]
[ENSMUST00000113603]
[ENSMUST00000131476]
[ENSMUST00000136009]
|
AlphaFold |
P18052 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042055
AA Change: S283P
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046837 Gene: ENSMUSG00000039515 AA Change: S283P
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Pfam:PTPA
|
26 |
319 |
1.5e-126 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113601
AA Change: S64P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109231 Gene: ENSMUSG00000039515 AA Change: S64P
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Pfam:PTPA
|
38 |
104 |
5.7e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113603
AA Change: S241P
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109233 Gene: ENSMUSG00000039515 AA Change: S241P
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Pfam:PTPA
|
64 |
280 |
5.7e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125561
AA Change: S96P
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114290 Gene: ENSMUSG00000039515 AA Change: S96P
Domain | Start | End | E-Value | Type |
Pfam:PTPA
|
1 |
125 |
6.1e-57 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130741
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131476
AA Change: S21P
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116268 Gene: ENSMUSG00000039515 AA Change: S21P
Domain | Start | End | E-Value | Type |
Pfam:PTPA
|
1 |
61 |
8.3e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136009
AA Change: S21P
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114985 Gene: ENSMUSG00000039515 AA Change: S21P
Domain | Start | End | E-Value | Type |
Pfam:PTPA
|
1 |
61 |
8.3e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137741
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135105
|
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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
Bbx |
G |
A |
16: 50,022,854 (GRCm39) |
T702I |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,448,263 (GRCm39) |
D405G |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,026,370 (GRCm39) |
Y481C |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,166,340 (GRCm39) |
L768P |
probably damaging |
Het |
Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,525,208 (GRCm39) |
L79P |
possibly damaging |
Het |
Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
possibly damaging |
Het |
|
Other mutations in Ptpra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01411:Ptpra
|
APN |
2 |
130,386,359 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01734:Ptpra
|
APN |
2 |
130,385,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02066:Ptpra
|
APN |
2 |
30,333,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02201:Ptpra
|
APN |
2 |
30,336,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02218:Ptpra
|
APN |
2 |
130,394,255 (GRCm39) |
splice site |
probably benign |
|
IGL02385:Ptpra
|
APN |
2 |
130,382,393 (GRCm39) |
unclassified |
probably benign |
|
IGL02480:Ptpra
|
APN |
2 |
130,346,181 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03181:Ptpra
|
APN |
2 |
130,359,707 (GRCm39) |
missense |
probably damaging |
0.99 |
R0374:Ptpra
|
UTSW |
2 |
130,379,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Ptpra
|
UTSW |
2 |
130,381,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0848:Ptpra
|
UTSW |
2 |
130,360,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1550:Ptpra
|
UTSW |
2 |
130,383,313 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1596:Ptpra
|
UTSW |
2 |
130,386,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1602:Ptpra
|
UTSW |
2 |
30,327,602 (GRCm39) |
missense |
probably benign |
0.22 |
R1689:Ptpra
|
UTSW |
2 |
130,345,412 (GRCm39) |
missense |
probably benign |
0.01 |
R1760:Ptpra
|
UTSW |
2 |
130,391,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Ptpra
|
UTSW |
2 |
130,386,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2187:Ptpra
|
UTSW |
2 |
130,346,219 (GRCm39) |
missense |
probably benign |
|
R2848:Ptpra
|
UTSW |
2 |
130,386,919 (GRCm39) |
missense |
probably benign |
0.06 |
R2849:Ptpra
|
UTSW |
2 |
130,386,919 (GRCm39) |
missense |
probably benign |
0.06 |
R3962:Ptpra
|
UTSW |
2 |
30,325,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Ptpra
|
UTSW |
2 |
30,333,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R4644:Ptpra
|
UTSW |
2 |
130,386,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4779:Ptpra
|
UTSW |
2 |
130,379,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Ptpra
|
UTSW |
2 |
130,374,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R4899:Ptpra
|
UTSW |
2 |
130,386,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Ptpra
|
UTSW |
2 |
30,328,367 (GRCm39) |
critical splice donor site |
probably null |
|
R5657:Ptpra
|
UTSW |
2 |
130,346,204 (GRCm39) |
missense |
probably benign |
0.06 |
R6018:Ptpra
|
UTSW |
2 |
130,345,422 (GRCm39) |
missense |
probably benign |
|
R6234:Ptpra
|
UTSW |
2 |
130,379,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6350:Ptpra
|
UTSW |
2 |
130,382,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R6622:Ptpra
|
UTSW |
2 |
30,327,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Ptpra
|
UTSW |
2 |
130,361,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Ptpra
|
UTSW |
2 |
130,395,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Ptpra
|
UTSW |
2 |
130,379,571 (GRCm39) |
critical splice donor site |
probably null |
|
R7220:Ptpra
|
UTSW |
2 |
130,386,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R7346:Ptpra
|
UTSW |
2 |
130,395,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Ptpra
|
UTSW |
2 |
130,346,126 (GRCm39) |
missense |
probably benign |
|
R7943:Ptpra
|
UTSW |
2 |
30,322,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R8044:Ptpra
|
UTSW |
2 |
130,386,881 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8190:Ptpra
|
UTSW |
2 |
30,328,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R8231:Ptpra
|
UTSW |
2 |
130,379,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8404:Ptpra
|
UTSW |
2 |
130,391,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8422:Ptpra
|
UTSW |
2 |
130,374,091 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8502:Ptpra
|
UTSW |
2 |
130,391,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Ptpra
|
UTSW |
2 |
130,394,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8952:Ptpra
|
UTSW |
2 |
130,386,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Ptpra
|
UTSW |
2 |
30,328,256 (GRCm39) |
missense |
probably benign |
0.21 |
R9147:Ptpra
|
UTSW |
2 |
30,328,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Ptpra
|
UTSW |
2 |
30,328,256 (GRCm39) |
missense |
probably benign |
0.21 |
R9148:Ptpra
|
UTSW |
2 |
30,328,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Ptpra
|
UTSW |
2 |
130,384,366 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2014-05-07 |