Incidental Mutation 'R7410:Ptprm'
| ID |
575045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
045491-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7410 (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 C
at 67000561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1141
(V1141G)
|
| 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: V1141G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: V1141G
| 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: V1107G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
| Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,652,330 (GRCm39) |
L1094S |
probably damaging |
Het |
| Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
| Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
| Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
| Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
| Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
| Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
| Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
| Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,738,080 (GRCm39) |
V508A |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
| Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
| Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
| Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
| Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
| H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
| Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
| Ints2 |
T |
G |
11: 86,124,052 (GRCm39) |
T579P |
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
| Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
| Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
| Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
| Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,765,279 (GRCm39) |
Q549* |
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
| Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
| Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
| Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
| Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
| Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
unknown |
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 |
|
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'- GGCATACTTCTTTTGCCCAAGG -3'
(R):5'- CTGCAGGTAAGGAGAGTTCC -3'
Sequencing Primer
(F):5'- CATACTTCTTTTGCCCAAGGAGGTG -3'
(R):5'- TAAGGAGAGTTCCCAGGGCTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation