Incidental Mutation 'R3824:Ptprm'
ID |
275308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
MMRRC Submission |
040885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3824 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67116570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 894
(V894A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
AlphaFold |
P28828 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037974
AA Change: V903A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: V903A
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 benign
Transcript: ENSMUST00000223982
AA Change: V869A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224091
AA Change: V894A
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225554
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225688
|
Meta Mutation Damage Score |
0.0710 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (62/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
C |
17: 35,878,508 (GRCm39) |
C20R |
probably benign |
Het |
6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
9430015G10Rik |
T |
A |
4: 156,203,607 (GRCm39) |
|
probably null |
Het |
A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,259,446 (GRCm39) |
|
probably null |
Het |
Acad10 |
A |
T |
5: 121,760,881 (GRCm39) |
M941K |
probably benign |
Het |
Agrn |
A |
G |
4: 156,253,759 (GRCm39) |
L1649P |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,061,930 (GRCm39) |
R402G |
possibly damaging |
Het |
Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
Btn2a2 |
T |
A |
13: 23,664,635 (GRCm39) |
T308S |
probably benign |
Het |
C8b |
G |
T |
4: 104,640,206 (GRCm39) |
A170S |
probably benign |
Het |
Cabyr |
T |
A |
18: 12,884,747 (GRCm39) |
D411E |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,314,964 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
Cflar |
T |
A |
1: 58,774,856 (GRCm39) |
Y218N |
probably benign |
Het |
Col11a2 |
T |
C |
17: 34,273,154 (GRCm39) |
Y630H |
probably damaging |
Het |
Coq6 |
T |
C |
12: 84,419,189 (GRCm39) |
|
probably benign |
Het |
Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,419,884 (GRCm39) |
S1015R |
possibly damaging |
Het |
Gjb4 |
A |
G |
4: 127,245,222 (GRCm39) |
S240P |
probably benign |
Het |
Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
Gls |
A |
C |
1: 52,272,147 (GRCm39) |
M2R |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,225,621 (GRCm39) |
Y645* |
probably null |
Het |
Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
Kat8 |
T |
A |
7: 127,523,654 (GRCm39) |
D292E |
possibly damaging |
Het |
Myo19 |
T |
A |
11: 84,776,505 (GRCm39) |
C54S |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,794,726 (GRCm39) |
H532Y |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,370,904 (GRCm39) |
K357E |
possibly damaging |
Het |
Ndufaf1 |
C |
T |
2: 119,490,752 (GRCm39) |
V105M |
probably benign |
Het |
Or2o1 |
A |
G |
11: 49,051,620 (GRCm39) |
S260G |
possibly damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
Or8b1b |
T |
A |
9: 38,375,822 (GRCm39) |
C162S |
probably benign |
Het |
Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
Or8k30 |
T |
G |
2: 86,339,367 (GRCm39) |
L188R |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,162,067 (GRCm39) |
D439G |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,828 (GRCm39) |
|
probably benign |
Het |
Pigo |
A |
T |
4: 43,020,909 (GRCm39) |
W678R |
possibly damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,283 (GRCm39) |
|
probably null |
Het |
Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
Pramel24 |
A |
T |
4: 143,453,255 (GRCm39) |
H121L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,377,593 (GRCm39) |
|
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,304 (GRCm39) |
I1049T |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,804 (GRCm39) |
T267A |
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,700,100 (GRCm39) |
Q144R |
possibly damaging |
Het |
Sorcs3 |
T |
A |
19: 48,711,395 (GRCm39) |
D653E |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,548 (GRCm39) |
S926F |
possibly damaging |
Het |
Spata31f3 |
A |
G |
4: 42,873,492 (GRCm39) |
|
probably null |
Het |
St8sia1 |
A |
G |
6: 142,774,751 (GRCm39) |
L276P |
probably damaging |
Het |
Sync |
T |
C |
4: 129,188,156 (GRCm39) |
V396A |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,394,002 (GRCm39) |
T592A |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,002 (GRCm39) |
I236F |
possibly damaging |
Het |
Tas2r107 |
A |
C |
6: 131,636,293 (GRCm39) |
I252S |
probably benign |
Het |
Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
Usp24 |
G |
A |
4: 106,236,263 (GRCm39) |
V984I |
probably benign |
Het |
Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm39) |
T111S |
probably damaging |
Het |
Vmn2r74 |
T |
G |
7: 85,607,466 (GRCm39) |
N86H |
probably damaging |
Het |
Zfp12 |
T |
C |
5: 143,226,077 (GRCm39) |
V72A |
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 |
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 |
R5433:Ptprm
|
UTSW |
17 |
67,000,468 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACACACGCAAACTTGGTCTAAG -3'
(R):5'- TCCTACAGTGGAGGGATGTC -3'
Sequencing Primer
(F):5'- CTCTGCCTGGCATCTCAAGG -3'
(R):5'- CTACAGTGGAGGGATGTCAGCAG -3'
|
Posted On |
2015-04-02 |