Incidental Mutation 'R9663:Ptprm'
| ID |
727723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67498291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 50
(Q50R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
| AlphaFold |
P28828 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037974
AA Change: Q50R
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: Q50R
| 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: Q50R
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224091
AA Change: Q50R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
T |
C |
7: 30,013,371 (GRCm39) |
S161P |
probably damaging |
Het |
| Alppl2 |
T |
A |
1: 87,015,753 (GRCm39) |
H297L |
probably benign |
Het |
| Angptl2 |
A |
G |
2: 33,118,231 (GRCm39) |
R2G |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,845,255 (GRCm39) |
N199I |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,680,132 (GRCm39) |
I328K |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,971,540 (GRCm39) |
T734K |
probably benign |
Het |
| Capn3 |
A |
C |
2: 120,316,859 (GRCm39) |
M283L |
probably benign |
Het |
| Catsperd |
T |
A |
17: 56,960,751 (GRCm39) |
C384S |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,911,222 (GRCm39) |
V816A |
probably benign |
Het |
| Cd5 |
T |
G |
19: 10,703,858 (GRCm39) |
D68A |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,288,764 (GRCm39) |
V172M |
probably damaging |
Het |
| Cfap100 |
G |
A |
6: 90,386,328 (GRCm39) |
R276C |
|
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Creb3l2 |
A |
G |
6: 37,356,926 (GRCm39) |
V47A |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,933,654 (GRCm39) |
E1017D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,011,461 (GRCm39) |
D116G |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,079,070 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 38,982,178 (GRCm39) |
T48I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,205 (GRCm39) |
D598V |
probably damaging |
Het |
| Dtx3 |
G |
A |
10: 127,028,518 (GRCm39) |
T237I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,764 (GRCm39) |
E432G |
possibly damaging |
Het |
| Eps15 |
G |
A |
4: 109,179,270 (GRCm39) |
V219I |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Fam151a |
A |
T |
4: 106,604,894 (GRCm39) |
I419L |
possibly damaging |
Het |
| Fam89a |
C |
T |
8: 125,478,436 (GRCm39) |
G38D |
probably damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,717 (GRCm39) |
A29E |
probably benign |
Het |
| Hhla1 |
G |
A |
15: 65,813,630 (GRCm39) |
T234I |
probably damaging |
Het |
| Hspb6 |
G |
A |
7: 30,253,714 (GRCm39) |
V76M |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,315,325 (GRCm39) |
K698N |
probably benign |
Het |
| Invs |
A |
G |
4: 48,426,218 (GRCm39) |
I1002V |
probably damaging |
Het |
| Itga8 |
A |
C |
2: 12,196,580 (GRCm39) |
F612L |
probably benign |
Het |
| Kcnma1 |
G |
T |
14: 24,053,897 (GRCm39) |
F99L |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,705,731 (GRCm39) |
Y395C |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,283 (GRCm39) |
N133K |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,884 (GRCm39) |
Y342C |
probably damaging |
Het |
| Lrrc18 |
A |
T |
14: 32,731,021 (GRCm39) |
M187L |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,187,756 (GRCm39) |
S311P |
unknown |
Het |
| Lypd3 |
T |
A |
7: 24,338,349 (GRCm39) |
S133R |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,859,699 (GRCm39) |
S1233T |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,857,463 (GRCm39) |
E1062D |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,221,098 (GRCm39) |
K942E |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,469,941 (GRCm39) |
D404G |
probably damaging |
Het |
| Nisch |
C |
A |
14: 30,895,625 (GRCm39) |
A1022S |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,321 (GRCm39) |
D113G |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,165 (GRCm39) |
F107L |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,272,929 (GRCm39) |
I83F |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,497 (GRCm39) |
F299S |
probably benign |
Het |
| Otub1 |
C |
T |
19: 7,176,813 (GRCm39) |
G181D |
probably damaging |
Het |
| Palb2 |
T |
C |
7: 121,726,304 (GRCm39) |
H522R |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,459 (GRCm39) |
D570V |
probably damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,171,070 (GRCm39) |
N271S |
probably damaging |
Het |
| Rfx2 |
C |
A |
17: 57,087,895 (GRCm39) |
V499L |
possibly damaging |
Het |
| Sema5a |
C |
T |
15: 32,673,546 (GRCm39) |
Q795* |
probably null |
Het |
| Sf3a2 |
A |
G |
10: 80,637,309 (GRCm39) |
N49S |
probably damaging |
Het |
| Sft2d1 |
T |
G |
17: 8,545,812 (GRCm39) |
S156A |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a33 |
T |
A |
4: 149,836,913 (GRCm39) |
T144S |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,818,818 (GRCm39) |
K6M |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Tfap2c |
G |
A |
2: 172,399,213 (GRCm39) |
D487N |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,890,026 (GRCm39) |
F857S |
probably damaging |
Het |
| Tnfrsf4 |
A |
G |
4: 156,100,884 (GRCm39) |
I272V |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,220,924 (GRCm39) |
R45C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,756,320 (GRCm39) |
S1167P |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,855,537 (GRCm39) |
T161S |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,380,579 (GRCm39) |
V262A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ufsp1 |
C |
A |
5: 137,293,545 (GRCm39) |
P165Q |
possibly damaging |
Het |
| Usp19 |
T |
G |
9: 108,371,894 (GRCm39) |
L390R |
probably damaging |
Het |
| Vegfc |
G |
T |
8: 54,634,338 (GRCm39) |
C339F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,549 (GRCm39) |
N428K |
possibly damaging |
Het |
| Wdr11 |
T |
G |
7: 129,210,647 (GRCm39) |
V517G |
probably damaging |
Het |
| Xkr4 |
T |
A |
1: 3,286,519 (GRCm39) |
D557V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,379,119 (GRCm39) |
C5327F |
unknown |
Het |
| Zfp770 |
A |
T |
2: 114,026,949 (GRCm39) |
N373K |
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 |
|
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 |
|
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'- CAGTATCCAGTGACAATGCTCC -3'
(R):5'- TCACACCCAGATGTCAAGTTG -3'
Sequencing Primer
(F):5'- TGCTCCATAACTATGTCGAGAC -3'
(R):5'- GCTGCCTCTTTGATGAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation