Incidental Mutation 'R6229:Ptprm'
| ID |
504590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
044358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66995295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1311
(D1311V)
|
| 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: D1311V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: D1311V
| 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: D1277V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225074
|
| Meta Mutation Damage Score |
0.9506 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
A |
1: 120,099,213 (GRCm39) |
|
probably null |
Het |
| Adamts6 |
G |
A |
13: 104,483,900 (GRCm39) |
|
probably null |
Het |
| Add3 |
C |
A |
19: 53,223,277 (GRCm39) |
A343D |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,572,528 (GRCm39) |
D398G |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,222,937 (GRCm39) |
A225T |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,222,938 (GRCm39) |
W224C |
probably damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,227,547 (GRCm39) |
Q431L |
probably benign |
Het |
| Calm4 |
A |
G |
13: 3,888,038 (GRCm39) |
D48G |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,319,484 (GRCm39) |
I502L |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,220,683 (GRCm39) |
S185P |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,101,471 (GRCm39) |
K1418N |
possibly damaging |
Het |
| Cmya5 |
A |
C |
13: 93,229,814 (GRCm39) |
V1758G |
probably benign |
Het |
| Cpsf4l |
T |
C |
11: 113,599,680 (GRCm39) |
K35R |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,622 (GRCm39) |
V119E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,564,711 (GRCm39) |
Q2651K |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,676,920 (GRCm39) |
|
probably null |
Het |
| Enc1 |
A |
G |
13: 97,381,999 (GRCm39) |
R170G |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,741,228 (GRCm39) |
R357G |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,375,734 (GRCm39) |
K58E |
possibly damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,528 (GRCm39) |
|
probably null |
Het |
| Fmo9 |
A |
C |
1: 166,505,126 (GRCm39) |
M89R |
possibly damaging |
Het |
| Gm6096 |
A |
C |
7: 33,950,676 (GRCm39) |
I72L |
possibly damaging |
Het |
| Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,464 (GRCm39) |
|
probably null |
Het |
| Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm39) |
Y233H |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,513,923 (GRCm39) |
I43T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,891 (GRCm39) |
N64D |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,875,441 (GRCm39) |
S44P |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 64,976,016 (GRCm39) |
G444W |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,832 (GRCm39) |
C13R |
probably damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,404,160 (GRCm39) |
M761K |
possibly damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,913,887 (GRCm39) |
I719T |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,015 (GRCm39) |
V1423E |
probably damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,528,749 (GRCm39) |
|
probably null |
Het |
| Mrps28 |
T |
C |
3: 8,965,097 (GRCm39) |
D114G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,792 (GRCm39) |
M1412L |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,280 (GRCm39) |
K96E |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,197,162 (GRCm39) |
V462A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,287,524 (GRCm39) |
S923P |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nfatc2ip |
C |
T |
7: 125,995,113 (GRCm39) |
|
probably null |
Het |
| Or11g24 |
A |
G |
14: 50,662,662 (GRCm39) |
R229G |
probably benign |
Het |
| Or12e10 |
G |
T |
2: 87,640,431 (GRCm39) |
C89F |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,819 (GRCm39) |
I107V |
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,449,014 (GRCm39) |
I71F |
possibly damaging |
Het |
| Plin2 |
A |
G |
4: 86,586,903 (GRCm39) |
V5A |
probably benign |
Het |
| Pramel31 |
T |
C |
4: 144,090,199 (GRCm39) |
M413T |
probably benign |
Het |
| Recql5 |
A |
T |
11: 115,821,540 (GRCm39) |
I72N |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,648 (GRCm39) |
M847K |
probably benign |
Het |
| Slc23a1 |
T |
C |
18: 35,752,577 (GRCm39) |
R567G |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,774,753 (GRCm39) |
R200H |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,580 (GRCm39) |
Y843* |
probably null |
Het |
| Syne2 |
C |
A |
12: 75,967,994 (GRCm39) |
Q915K |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,985 (GRCm39) |
I275F |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,081 (GRCm39) |
H790R |
probably damaging |
Het |
| Tm7sf3 |
A |
G |
6: 146,514,887 (GRCm39) |
F310S |
possibly damaging |
Het |
| Tmem9b |
T |
A |
7: 109,344,627 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,184,742 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,003,802 (GRCm39) |
S209T |
probably benign |
Het |
| Uap1 |
C |
T |
1: 169,994,302 (GRCm39) |
R58Q |
probably benign |
Het |
| Upk3bl |
A |
G |
5: 136,092,915 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
G |
11: 23,396,778 (GRCm39) |
H596R |
probably damaging |
Het |
| Vmn1r181 |
C |
T |
7: 23,683,580 (GRCm39) |
A15V |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,883 (GRCm39) |
K350N |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,178 (GRCm39) |
H176R |
probably benign |
Het |
| Vwa7 |
A |
G |
17: 35,243,241 (GRCm39) |
R640G |
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 |
|
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 |
|
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'- CAAATCTTTGCCGGGCCATG -3'
(R):5'- CCATTTTGGAGTTGACAAGGATG -3'
Sequencing Primer
(F):5'- TCTCTGACTTGAGGTCTG -3'
(R):5'- AACACATCGGATGCGTTTTGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation