Incidental Mutation 'R0709:Ptprm'
| ID |
216240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
038892-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0709 (G1)
|
| Quality Score |
36 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 67251327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
| AlphaFold |
P28828 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037974
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
| 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 null
Transcript: ENSMUST00000223982
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225688
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (83/85) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,358 (GRCm39) |
D137V |
probably damaging |
Het |
| Aar2 |
C |
T |
2: 156,408,930 (GRCm39) |
P378L |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,195,342 (GRCm39) |
H718Q |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,872,364 (GRCm39) |
L319F |
probably damaging |
Het |
| Angpt4 |
C |
A |
2: 151,776,434 (GRCm39) |
P321T |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 108,896,171 (GRCm39) |
N282S |
probably benign |
Het |
| AW554918 |
A |
C |
18: 25,596,711 (GRCm39) |
S525R |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,414,969 (GRCm39) |
I644N |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,719 (GRCm39) |
Y413H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,863,127 (GRCm39) |
H223R |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,579,260 (GRCm39) |
V634A |
possibly damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,616 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,445,220 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
C |
T |
2: 65,852,907 (GRCm39) |
S445L |
probably damaging |
Het |
| Cxcl13 |
G |
T |
5: 96,106,530 (GRCm39) |
C34F |
probably damaging |
Het |
| Dars2 |
T |
C |
1: 160,874,498 (GRCm39) |
E397G |
probably benign |
Het |
| Dlg5 |
C |
T |
14: 24,196,323 (GRCm39) |
V1625M |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,606,222 (GRCm39) |
|
probably benign |
Het |
| Eif4a1 |
C |
A |
11: 69,561,078 (GRCm39) |
A76S |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,463,347 (GRCm39) |
I107L |
probably damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,057 (GRCm39) |
C593F |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,359 (GRCm39) |
F152L |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,070,085 (GRCm39) |
G534D |
probably benign |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,697,906 (GRCm39) |
V74E |
probably damaging |
Het |
| Gprc5a |
T |
A |
6: 135,055,948 (GRCm39) |
S132T |
probably damaging |
Het |
| Hk3 |
G |
A |
13: 55,162,543 (GRCm39) |
R47C |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,815 (GRCm39) |
Q3351L |
unknown |
Het |
| Icam1 |
T |
A |
9: 20,930,423 (GRCm39) |
F92L |
probably damaging |
Het |
| Ifi213 |
C |
T |
1: 173,417,366 (GRCm39) |
V349I |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,275,888 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,526,048 (GRCm39) |
V487A |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 33,855,924 (GRCm39) |
V204A |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,137,280 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,492,665 (GRCm39) |
V1369I |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,210,422 (GRCm39) |
K573N |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,234,962 (GRCm39) |
R204G |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,877,732 (GRCm39) |
D461V |
unknown |
Het |
| Nek6 |
T |
A |
2: 38,447,858 (GRCm39) |
S41T |
probably damaging |
Het |
| Nudt22 |
T |
C |
19: 6,970,874 (GRCm39) |
E232G |
probably damaging |
Het |
| Numbl |
C |
A |
7: 26,973,415 (GRCm39) |
F192L |
probably damaging |
Het |
| Or4c105 |
C |
T |
2: 88,648,226 (GRCm39) |
T237I |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,422 (GRCm39) |
I46K |
probably damaging |
Het |
| P2rx4 |
T |
C |
5: 122,852,467 (GRCm39) |
V47A |
probably damaging |
Het |
| Phka1 |
T |
A |
X: 101,629,710 (GRCm39) |
I478F |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,536,281 (GRCm39) |
T200I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,593,698 (GRCm39) |
|
probably null |
Het |
| Polg2 |
C |
T |
11: 106,659,239 (GRCm39) |
G425R |
probably damaging |
Het |
| Reg1 |
G |
A |
6: 78,405,101 (GRCm39) |
R108H |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,084,367 (GRCm39) |
F86I |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,265,603 (GRCm39) |
L372P |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,836,985 (GRCm39) |
V28M |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,224,012 (GRCm39) |
N9S |
probably damaging |
Het |
| Snd1 |
C |
G |
6: 28,545,469 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,475,845 (GRCm39) |
A235T |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,622,002 (GRCm39) |
N362K |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,641,775 (GRCm39) |
I32F |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,069,040 (GRCm39) |
R189C |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,855,514 (GRCm39) |
I298T |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,637,570 (GRCm39) |
I225V |
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,366 (GRCm39) |
V245E |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,908,328 (GRCm39) |
E1327G |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,987,276 (GRCm39) |
E10G |
possibly damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,747 (GRCm39) |
|
probably benign |
Het |
| Ttr |
A |
T |
18: 20,803,034 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
G |
9: 113,773,999 (GRCm39) |
Y66C |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,166 (GRCm39) |
N98K |
probably damaging |
Het |
| Yipf5 |
A |
G |
18: 40,340,825 (GRCm39) |
S176P |
probably benign |
Het |
| Zpbp2 |
C |
T |
11: 98,444,763 (GRCm39) |
T97I |
probably damaging |
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 |
|
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 |
|
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'- CATCGCTTCTGATGCAAGGCATAAC -3'
(R):5'- GGTGGAAACAGTTCAATGCGGC -3'
Sequencing Primer
(F):5'- TGCAAGGCATAACTCATCAGTG -3'
(R):5'- CAGGTTGTGGTAAACACATCC -3'
|
| Posted On |
2014-07-31 |
Incidental Mutation