Incidental Mutation 'R9514:Ptprm'
ID |
718420 |
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 # |
R9514 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67116466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 938
(Y938H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
AlphaFold |
P28828 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: Y938H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: Y938H
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: Y904H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224091
AA Change: Y929H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225554
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
C |
11: 58,312,533 (GRCm39) |
S4P |
probably benign |
Het |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Acsl6 |
A |
G |
11: 54,225,880 (GRCm39) |
N307D |
probably benign |
Het |
Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,112,414 (GRCm39) |
D1201G |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,213,611 (GRCm39) |
L10S |
probably benign |
Het |
Cd33 |
A |
T |
7: 43,182,150 (GRCm39) |
H98Q |
probably benign |
Het |
Cebpz |
A |
T |
17: 79,239,684 (GRCm39) |
M579K |
probably benign |
Het |
Cenpk |
T |
G |
13: 104,370,682 (GRCm39) |
C103G |
probably benign |
Het |
Cep97 |
T |
A |
16: 55,726,093 (GRCm39) |
Q670L |
probably benign |
Het |
Cfap65 |
C |
T |
1: 74,945,468 (GRCm39) |
|
probably null |
Het |
Cir1 |
A |
G |
2: 73,142,781 (GRCm39) |
S18P |
probably damaging |
Het |
Coprs |
T |
C |
8: 13,935,081 (GRCm39) |
Y158C |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,469,765 (GRCm39) |
F389S |
probably damaging |
Het |
Dimt1 |
T |
C |
13: 107,093,636 (GRCm39) |
I276T |
possibly damaging |
Het |
Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,371,781 (GRCm39) |
C911S |
probably benign |
Het |
Egr3 |
A |
G |
14: 70,314,978 (GRCm39) |
I29V |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,844,766 (GRCm39) |
S493P |
unknown |
Het |
Fam83a |
G |
A |
15: 57,849,765 (GRCm39) |
G103D |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,175,808 (GRCm39) |
Q1635L |
probably damaging |
Het |
Figla |
A |
C |
6: 85,997,689 (GRCm39) |
H139P |
probably benign |
Het |
Fryl |
T |
C |
5: 73,262,115 (GRCm39) |
K551E |
probably damaging |
Het |
Galr2 |
A |
G |
11: 116,174,452 (GRCm39) |
T361A |
probably benign |
Het |
Gart |
A |
T |
16: 91,427,596 (GRCm39) |
S467R |
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,229,742 (GRCm39) |
K45R |
probably benign |
Het |
Ghsr |
G |
C |
3: 27,426,630 (GRCm39) |
V229L |
possibly damaging |
Het |
H2ac21 |
A |
G |
3: 96,127,401 (GRCm39) |
E57G |
probably damaging |
Het |
Hectd2 |
A |
T |
19: 36,582,689 (GRCm39) |
H473L |
possibly damaging |
Het |
Hic2 |
T |
C |
16: 17,076,293 (GRCm39) |
V374A |
possibly damaging |
Het |
Hivep2 |
T |
A |
10: 14,005,523 (GRCm39) |
I707N |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,449,741 (GRCm39) |
S116P |
probably damaging |
Het |
Krt34 |
A |
T |
11: 99,929,226 (GRCm39) |
I328N |
probably damaging |
Het |
Krt79 |
G |
A |
15: 101,840,288 (GRCm39) |
R303C |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,100,015 (GRCm39) |
E830G |
probably benign |
Het |
Lamb2 |
C |
T |
9: 108,358,006 (GRCm39) |
T149I |
probably damaging |
Het |
Mau2 |
T |
C |
8: 70,480,153 (GRCm39) |
Y318C |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,377,496 (GRCm39) |
S486G |
probably benign |
Het |
Mllt10 |
A |
G |
2: 18,164,322 (GRCm39) |
D284G |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,937,366 (GRCm39) |
S748R |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,248,133 (GRCm39) |
S1724P |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,052,922 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
G |
C |
17: 74,753,736 (GRCm39) |
L216V |
probably benign |
Het |
Ogfr |
A |
G |
2: 180,235,417 (GRCm39) |
M164V |
possibly damaging |
Het |
Or1o4 |
G |
T |
17: 37,591,386 (GRCm39) |
|
probably benign |
Het |
Or4b12 |
G |
A |
2: 90,096,709 (GRCm39) |
Q22* |
probably null |
Het |
Pcdha12 |
G |
T |
18: 37,155,526 (GRCm39) |
W748C |
probably damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,395,849 (GRCm39) |
V2083A |
probably damaging |
Het |
Plin3 |
C |
A |
17: 56,587,824 (GRCm39) |
G297V |
probably benign |
Het |
Prex1 |
C |
T |
2: 166,419,896 (GRCm39) |
R1260Q |
possibly damaging |
Het |
Prpf38b |
A |
G |
3: 108,818,619 (GRCm39) |
V47A |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,675,071 (GRCm39) |
T851A |
probably benign |
Het |
Ptk7 |
T |
A |
17: 46,887,744 (GRCm39) |
I563F |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,507,203 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
T |
C |
11: 54,443,684 (GRCm39) |
V89A |
probably benign |
Het |
Sh2b1 |
CTC |
CTCCGCCACGGGGACCAGTTC |
7: 126,066,770 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
AGCTCAGCCACGGGGACC |
AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
ACCAGCTC |
ACCAGCTCAGCCACGGGGGCCAGCTC |
7: 126,066,765 (GRCm39) |
|
probably benign |
Het |
Slain1 |
T |
A |
14: 103,932,748 (GRCm39) |
V444E |
probably damaging |
Het |
Slc10a5 |
T |
A |
3: 10,400,532 (GRCm39) |
I43F |
possibly damaging |
Het |
Smarca2 |
T |
C |
19: 26,659,452 (GRCm39) |
F914S |
possibly damaging |
Het |
Smarca5 |
A |
C |
8: 81,428,840 (GRCm39) |
L1003V |
probably damaging |
Het |
Spata18 |
A |
T |
5: 73,829,840 (GRCm39) |
I332F |
|
Het |
Spata31d1e |
A |
G |
13: 59,890,806 (GRCm39) |
V338A |
probably damaging |
Het |
Stard9 |
C |
G |
2: 120,534,564 (GRCm39) |
P3607R |
probably damaging |
Het |
Tbx19 |
A |
G |
1: 164,966,546 (GRCm39) |
S443P |
unknown |
Het |
Tktl2 |
C |
G |
8: 66,965,840 (GRCm39) |
A466G |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem129 |
A |
G |
5: 33,815,122 (GRCm39) |
V17A |
probably benign |
Het |
Tom1l2 |
T |
C |
11: 60,153,486 (GRCm39) |
T164A |
probably damaging |
Het |
Tor1aip1 |
T |
A |
1: 155,906,177 (GRCm39) |
D205V |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,648 (GRCm39) |
S751T |
probably benign |
Het |
Trim11 |
G |
T |
11: 58,878,477 (GRCm39) |
A251S |
unknown |
Het |
Trim33 |
T |
C |
3: 103,239,074 (GRCm39) |
V684A |
probably benign |
Het |
Triobp |
C |
T |
15: 78,877,378 (GRCm39) |
R1637C |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,960,040 (GRCm39) |
N1225S |
probably benign |
Het |
Usp21 |
T |
C |
1: 171,112,503 (GRCm39) |
Y300C |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,913,560 (GRCm39) |
T924A |
probably damaging |
Het |
Vmn1r198 |
A |
T |
13: 22,539,015 (GRCm39) |
H167L |
possibly damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,689,672 (GRCm39) |
T183A |
probably benign |
Het |
Zc3h8 |
T |
C |
2: 128,773,223 (GRCm39) |
Y213C |
probably damaging |
Het |
Zcchc17 |
A |
T |
4: 130,232,337 (GRCm39) |
D55E |
probably benign |
Het |
Zfp408 |
A |
T |
2: 91,478,368 (GRCm39) |
W26R |
probably damaging |
Het |
Zfp937 |
G |
T |
2: 150,080,890 (GRCm39) |
A307S |
possibly 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 |
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 |
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'- GCAGCCAGTGGATGTTTATGC -3'
(R):5'- TCCTACAGTGGAGGGATGTC -3'
Sequencing Primer
(F):5'- GTTTATGCACAAGGAAGTAAAATGTG -3'
(R):5'- TCCTTTCCAGATGAGACCCAC -3'
|
Posted On |
2022-07-18 |