Incidental Mutation 'R5433:Ptprm'
ID |
428174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
MMRRC Submission |
042998-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67000468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1172
(V1172E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
|
AlphaFold |
P28828 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: V1172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: V1172E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
MAM
|
22 |
184 |
2.81e-73 |
SMART |
IG
|
191 |
279 |
2.1e-6 |
SMART |
FN3
|
281 |
364 |
6.35e-4 |
SMART |
FN3
|
380 |
468 |
2.81e-5 |
SMART |
FN3
|
482 |
572 |
3.7e-5 |
SMART |
transmembrane domain
|
743 |
764 |
N/A |
INTRINSIC |
low complexity region
|
765 |
774 |
N/A |
INTRINSIC |
PTPc
|
899 |
1156 |
5.26e-135 |
SMART |
PTPc
|
1185 |
1450 |
9.46e-96 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223982
AA Change: V1138E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225074
|
Meta Mutation Damage Score |
0.9692 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (58/58) |
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 two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
T |
C |
1: 52,964,657 (GRCm39) |
S24G |
probably damaging |
Het |
1810064F22Rik |
A |
G |
9: 22,119,039 (GRCm39) |
|
noncoding transcript |
Het |
Aacs |
A |
T |
5: 125,592,078 (GRCm39) |
M589L |
probably benign |
Het |
Adamts8 |
A |
C |
9: 30,873,012 (GRCm39) |
H739P |
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,860,216 (GRCm39) |
|
probably benign |
Het |
BC030500 |
A |
G |
8: 59,366,043 (GRCm39) |
|
probably benign |
Het |
Btnl9 |
T |
A |
11: 49,066,830 (GRCm39) |
|
probably benign |
Het |
Cd74 |
G |
T |
18: 60,940,993 (GRCm39) |
A31S |
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,893,808 (GRCm39) |
A440T |
possibly damaging |
Het |
Ces1d |
G |
A |
8: 93,912,664 (GRCm39) |
T258I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,266,735 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
T |
19: 4,203,449 (GRCm39) |
A430V |
probably benign |
Het |
Cyp2c65 |
A |
T |
19: 39,081,928 (GRCm39) |
I485L |
probably benign |
Het |
Dio1 |
A |
T |
4: 107,163,977 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,000,966 (GRCm39) |
|
probably null |
Het |
Dynlt5 |
A |
G |
4: 102,859,700 (GRCm39) |
E84G |
possibly damaging |
Het |
Elp6 |
A |
G |
9: 110,144,851 (GRCm39) |
Y136C |
probably damaging |
Het |
Gon4l |
A |
T |
3: 88,803,532 (GRCm39) |
Q1382L |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,711,295 (GRCm39) |
E17G |
probably damaging |
Het |
Gucy2d |
G |
A |
7: 98,098,982 (GRCm39) |
G267E |
probably damaging |
Het |
Gvin3 |
T |
A |
7: 106,199,314 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
A |
4: 137,256,105 (GRCm39) |
|
probably null |
Het |
Il1a |
G |
T |
2: 129,149,821 (GRCm39) |
D26E |
possibly damaging |
Het |
Il22b |
T |
A |
10: 118,130,789 (GRCm39) |
I36F |
probably damaging |
Het |
Kcna1 |
A |
T |
6: 126,620,075 (GRCm39) |
F82I |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lamtor5 |
T |
G |
3: 107,189,323 (GRCm39) |
C120G |
probably benign |
Het |
Lars1 |
A |
G |
18: 42,384,363 (GRCm39) |
C72R |
possibly damaging |
Het |
Lrrfip1 |
T |
G |
1: 91,014,848 (GRCm39) |
|
probably null |
Het |
Mapkapk3 |
T |
C |
9: 107,133,491 (GRCm39) |
D349G |
probably damaging |
Het |
Mknk2 |
A |
T |
10: 80,503,059 (GRCm39) |
I421N |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,191,381 (GRCm39) |
I820T |
probably benign |
Het |
Notch2 |
T |
G |
3: 98,033,450 (GRCm39) |
V1182G |
probably damaging |
Het |
Or1af1 |
T |
G |
2: 37,109,684 (GRCm39) |
F61C |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2z2 |
C |
T |
11: 58,346,680 (GRCm39) |
V32M |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,245,632 (GRCm39) |
S641T |
probably damaging |
Het |
Prok1 |
T |
A |
3: 107,146,949 (GRCm39) |
H6L |
probably benign |
Het |
Rasal3 |
C |
T |
17: 32,612,575 (GRCm39) |
R762Q |
probably benign |
Het |
Rgs20 |
G |
T |
1: 5,140,333 (GRCm39) |
A23E |
possibly damaging |
Het |
Rprd1a |
T |
C |
18: 24,640,288 (GRCm39) |
T163A |
probably benign |
Het |
Rrm1 |
A |
T |
7: 102,114,974 (GRCm39) |
N37I |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,481,350 (GRCm39) |
E520V |
probably damaging |
Het |
Slc14a2 |
G |
T |
18: 78,252,143 (GRCm39) |
P56Q |
probably damaging |
Het |
Slc22a3 |
C |
T |
17: 12,677,377 (GRCm39) |
G264S |
probably damaging |
Het |
Svil |
A |
G |
18: 5,059,294 (GRCm39) |
E770G |
probably damaging |
Het |
Svop |
A |
G |
5: 114,198,186 (GRCm39) |
V129A |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,232,663 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,951,105 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
T |
A |
9: 79,687,930 (GRCm39) |
I80F |
probably damaging |
Het |
Vmn2r16 |
G |
T |
5: 109,511,708 (GRCm39) |
L638F |
probably damaging |
Het |
Xkr7 |
T |
A |
2: 152,896,244 (GRCm39) |
I366N |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,990,998 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ptprm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Ptprm
|
APN |
17 |
67,124,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01128:Ptprm
|
APN |
17 |
67,349,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Ptprm
|
APN |
17 |
67,069,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01785:Ptprm
|
APN |
17 |
66,992,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01912:Ptprm
|
APN |
17 |
67,353,113 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01929:Ptprm
|
APN |
17 |
66,997,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01937:Ptprm
|
APN |
17 |
67,353,158 (GRCm39) |
splice site |
probably benign |
|
IGL01939:Ptprm
|
APN |
17 |
67,370,158 (GRCm39) |
splice site |
probably benign |
|
IGL02053:Ptprm
|
APN |
17 |
67,000,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02203:Ptprm
|
APN |
17 |
67,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Ptprm
|
APN |
17 |
67,121,504 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02500:Ptprm
|
APN |
17 |
67,227,043 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02542:Ptprm
|
APN |
17 |
67,227,145 (GRCm39) |
missense |
probably benign |
|
Becalming
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
Pacifying
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0674:Ptprm
|
UTSW |
17 |
67,498,336 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0709:Ptprm
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
R1054:Ptprm
|
UTSW |
17 |
67,349,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Ptprm
|
UTSW |
17 |
67,000,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1561:Ptprm
|
UTSW |
17 |
67,247,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1726:Ptprm
|
UTSW |
17 |
67,349,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1744:Ptprm
|
UTSW |
17 |
66,996,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Ptprm
|
UTSW |
17 |
66,995,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1952:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1953:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1993:Ptprm
|
UTSW |
17 |
67,054,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Ptprm
|
UTSW |
17 |
67,264,148 (GRCm39) |
splice site |
probably null |
|
R2266:Ptprm
|
UTSW |
17 |
67,032,846 (GRCm39) |
splice site |
probably null |
|
R2417:Ptprm
|
UTSW |
17 |
67,251,321 (GRCm39) |
missense |
probably damaging |
0.97 |
R2511:Ptprm
|
UTSW |
17 |
67,000,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R3726:Ptprm
|
UTSW |
17 |
67,263,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3824:Ptprm
|
UTSW |
17 |
67,116,570 (GRCm39) |
missense |
probably benign |
0.40 |
R4057:Ptprm
|
UTSW |
17 |
67,382,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4113:Ptprm
|
UTSW |
17 |
67,032,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Ptprm
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4598:Ptprm
|
UTSW |
17 |
67,402,492 (GRCm39) |
missense |
probably benign |
0.00 |
R4742:Ptprm
|
UTSW |
17 |
67,051,746 (GRCm39) |
nonsense |
probably null |
|
R4974:Ptprm
|
UTSW |
17 |
66,985,062 (GRCm39) |
missense |
probably benign |
0.01 |
R5157:Ptprm
|
UTSW |
17 |
67,264,092 (GRCm39) |
missense |
probably benign |
0.09 |
R5509:Ptprm
|
UTSW |
17 |
66,996,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Ptprm
|
UTSW |
17 |
67,227,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Ptprm
|
UTSW |
17 |
66,996,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R5867:Ptprm
|
UTSW |
17 |
67,352,976 (GRCm39) |
splice site |
probably null |
|
R6044:Ptprm
|
UTSW |
17 |
67,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Ptprm
|
UTSW |
17 |
66,995,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6615:Ptprm
|
UTSW |
17 |
67,660,951 (GRCm39) |
critical splice donor site |
probably null |
|
R6969:Ptprm
|
UTSW |
17 |
67,219,413 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7135:Ptprm
|
UTSW |
17 |
67,251,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7161:Ptprm
|
UTSW |
17 |
67,116,622 (GRCm39) |
missense |
probably benign |
0.21 |
R7410:Ptprm
|
UTSW |
17 |
67,000,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7476:Ptprm
|
UTSW |
17 |
67,032,786 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:Ptprm
|
UTSW |
17 |
67,402,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8027:Ptprm
|
UTSW |
17 |
67,251,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R8089:Ptprm
|
UTSW |
17 |
66,990,483 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8442:Ptprm
|
UTSW |
17 |
67,251,312 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8476:Ptprm
|
UTSW |
17 |
67,251,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Ptprm
|
UTSW |
17 |
67,116,630 (GRCm39) |
missense |
probably benign |
0.00 |
R8907:Ptprm
|
UTSW |
17 |
67,051,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R8930:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
R8932:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
R9009:Ptprm
|
UTSW |
17 |
66,996,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R9084:Ptprm
|
UTSW |
17 |
67,263,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9338:Ptprm
|
UTSW |
17 |
67,069,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R9514:Ptprm
|
UTSW |
17 |
67,116,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Ptprm
|
UTSW |
17 |
67,498,291 (GRCm39) |
missense |
probably benign |
0.34 |
R9694:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9736:Ptprm
|
UTSW |
17 |
66,997,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACCAGAATCTGTAACTTG -3'
(R):5'- AGGACGCTAGAAGCCTTGTG -3'
Sequencing Primer
(F):5'- CTGTAACTTGAAAACTCCCTTTTGG -3'
(R):5'- GGCAGCCCTTCCCCTTG -3'
|
Posted On |
2016-09-01 |