Incidental Mutation 'R1967:Ptpro'
| ID |
219056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpro
|
| Ensembl Gene |
ENSMUSG00000030223 |
| Gene Name |
protein tyrosine phosphatase, receptor type, O |
| Synonyms |
Ptpn15, PTP-oc, GLEPP1, PTP-U2, PTP-BK, PTP-phi, D28, PTPROt |
| MMRRC Submission |
039980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
137252319-137463233 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137416865 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 23
(I23V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077115]
[ENSMUST00000167002]
[ENSMUST00000167679]
[ENSMUST00000203914]
|
| AlphaFold |
E9Q612 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077115
AA Change: I844V
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: I844V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
291 |
N/A |
INTRINSIC |
|
FN3
|
443 |
528 |
1.07e-1 |
SMART |
|
FN3
|
540 |
626 |
7.07e-2 |
SMART |
|
FN3
|
642 |
722 |
4.47e1 |
SMART |
|
FN3
|
733 |
812 |
5.92e-4 |
SMART |
|
transmembrane domain
|
831 |
853 |
N/A |
INTRINSIC |
|
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
|
PTPc
|
947 |
1207 |
1.43e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167002
AA Change: I23V
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: I23V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
PTPc
|
126 |
386 |
1.43e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167679
AA Change: I844V
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: I844V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
291 |
N/A |
INTRINSIC |
|
FN3
|
443 |
528 |
1.07e-1 |
SMART |
|
FN3
|
540 |
626 |
7.07e-2 |
SMART |
|
FN3
|
642 |
722 |
4.47e1 |
SMART |
|
FN3
|
733 |
812 |
5.92e-4 |
SMART |
|
transmembrane domain
|
831 |
853 |
N/A |
INTRINSIC |
|
PTPc
|
919 |
1179 |
1.43e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203914
AA Change: I23V
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: I23V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
PTPc
|
98 |
358 |
6.1e-130 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204780
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for one allele display impaired glomerular filtration due to podocyte structural anomalies and a predisposition for hypertension. Mice homozygous for a second allele exhibit susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
G |
15: 8,203,420 (GRCm38) |
V1141G |
probably benign |
Het |
| 4930447A16Rik |
A |
C |
15: 37,439,598 (GRCm38) |
|
probably benign |
Het |
| 4931408C20Rik |
T |
A |
1: 26,683,373 (GRCm38) |
I909L |
probably benign |
Het |
| Abca6 |
T |
C |
11: 110,187,148 (GRCm38) |
I1278V |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,921,309 (GRCm38) |
W310* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,426,951 (GRCm38) |
C650* |
probably null |
Het |
| Akap3 |
G |
T |
6: 126,865,098 (GRCm38) |
G227C |
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,317,856 (GRCm38) |
S457T |
probably benign |
Het |
| Angpt1 |
C |
A |
15: 42,438,307 (GRCm38) |
C435F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,300,608 (GRCm38) |
Q207R |
probably benign |
Het |
| Aplnr |
A |
T |
2: 85,137,606 (GRCm38) |
D325V |
probably benign |
Het |
| Art2b |
A |
C |
7: 101,580,207 (GRCm38) |
F162V |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,479,854 (GRCm38) |
S96P |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,973,636 (GRCm38) |
H614Q |
probably benign |
Het |
| C6 |
A |
G |
15: 4,759,820 (GRCm38) |
D249G |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,088,973 (GRCm38) |
F977I |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,391,154 (GRCm38) |
S188G |
possibly damaging |
Het |
| Cntrob |
A |
T |
11: 69,320,963 (GRCm38) |
L145Q |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,634,889 (GRCm38) |
E306G |
probably damaging |
Het |
| Cpq |
T |
C |
15: 33,497,202 (GRCm38) |
S363P |
possibly damaging |
Het |
| Ctc1 |
A |
G |
11: 69,027,862 (GRCm38) |
|
probably null |
Het |
| Defb43 |
T |
A |
14: 63,017,797 (GRCm38) |
N26K |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,844,833 (GRCm38) |
T41A |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 117,916,788 (GRCm38) |
Y3866D |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 30,024,545 (GRCm38) |
L11P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,416,429 (GRCm38) |
V26A |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,551,735 (GRCm38) |
D443G |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,637,134 (GRCm38) |
L243F |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 15,968,295 (GRCm38) |
R3301S |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,217,510 (GRCm38) |
T461A |
probably benign |
Het |
| Fgf8 |
T |
A |
19: 45,741,568 (GRCm38) |
S61C |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,705,005 (GRCm38) |
E100G |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,572,069 (GRCm38) |
S456F |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,470,317 (GRCm38) |
E457G |
probably damaging |
Het |
| Gm156 |
A |
T |
6: 129,775,835 (GRCm38) |
N2K |
possibly damaging |
Het |
| Gpr33 |
G |
A |
12: 52,024,208 (GRCm38) |
S16L |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,501,049 (GRCm38) |
N393T |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 8,977,304 (GRCm38) |
K492E |
probably benign |
Het |
| Hsf2bp |
A |
T |
17: 31,987,404 (GRCm38) |
L251* |
probably null |
Het |
| Hyal5 |
A |
T |
6: 24,876,194 (GRCm38) |
Q22L |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,941,984 (GRCm38) |
V114E |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 71,681,535 (GRCm38) |
I427N |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,675,162 (GRCm38) |
S975P |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 119,632,923 (GRCm38) |
V238A |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,372,074 (GRCm38) |
D315G |
probably damaging |
Het |
| Krt5 |
T |
C |
15: 101,711,659 (GRCm38) |
N208D |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 101,900,215 (GRCm38) |
H551Q |
probably benign |
Het |
| Lrp8 |
G |
T |
4: 107,859,971 (GRCm38) |
G732V |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,369,983 (GRCm38) |
D288G |
unknown |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,462,230 (GRCm38) |
|
probably benign |
Het |
| Mas1 |
A |
G |
17: 12,842,036 (GRCm38) |
Y167H |
probably benign |
Het |
| Mcm8 |
A |
C |
2: 132,842,742 (GRCm38) |
I759L |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,761,322 (GRCm38) |
D2148N |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,794,242 (GRCm38) |
I255K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,213,447 (GRCm38) |
N980S |
probably benign |
Het |
| Nap1l4 |
T |
A |
7: 143,534,287 (GRCm38) |
Q178L |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,699,910 (GRCm38) |
L988Q |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,830,372 (GRCm38) |
H245L |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,903,210 (GRCm38) |
E164G |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,412,745 (GRCm38) |
R416H |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,135,709 (GRCm38) |
Q223* |
probably null |
Het |
| Olfr1394 |
T |
C |
11: 49,160,848 (GRCm38) |
I278T |
probably benign |
Het |
| Olfr1494 |
T |
A |
19: 13,750,053 (GRCm38) |
*316R |
probably null |
Het |
| Pcdhb16 |
T |
A |
18: 37,479,662 (GRCm38) |
N558K |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 125,815,683 (GRCm38) |
M1253K |
possibly damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,922,081 (GRCm38) |
V22A |
probably damaging |
Het |
| Plppr5 |
G |
A |
3: 117,625,906 (GRCm38) |
|
probably null |
Het |
| Pnpla2 |
T |
C |
7: 141,459,432 (GRCm38) |
S353P |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,391,754 (GRCm38) |
L271Q |
unknown |
Het |
| Prepl |
A |
T |
17: 85,088,551 (GRCm38) |
M1K |
probably null |
Het |
| Prr14l |
A |
G |
5: 32,844,469 (GRCm38) |
|
probably benign |
Het |
| Psmc3 |
C |
A |
2: 91,057,844 (GRCm38) |
P325T |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,946,069 (GRCm38) |
V17A |
probably damaging |
Het |
| Rab31 |
A |
G |
17: 65,772,504 (GRCm38) |
|
probably null |
Het |
| Ranbp6 |
T |
A |
19: 29,812,500 (GRCm38) |
K151* |
probably null |
Het |
| Rbm12b1 |
A |
T |
4: 12,146,304 (GRCm38) |
I759L |
probably benign |
Het |
| Rgs5 |
T |
C |
1: 169,676,856 (GRCm38) |
I25T |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,480,895 (GRCm38) |
V4842A |
probably damaging |
Het |
| Rtl9 |
A |
T |
X: 143,103,041 (GRCm38) |
I1150F |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,328,425 (GRCm38) |
W384R |
probably damaging |
Het |
| Sema5a |
C |
T |
15: 32,681,619 (GRCm38) |
P948L |
probably damaging |
Het |
| Slc26a3 |
G |
A |
12: 31,465,778 (GRCm38) |
R559Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,716,464 (GRCm38) |
V267A |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,331,127 (GRCm38) |
|
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,745,299 (GRCm38) |
R1595L |
probably benign |
Het |
| Tfdp1 |
T |
C |
8: 13,373,039 (GRCm38) |
S315P |
possibly damaging |
Het |
| Tle1 |
A |
T |
4: 72,120,226 (GRCm38) |
V688E |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,655,321 (GRCm38) |
|
probably null |
Het |
| Tmprss11a |
G |
A |
5: 86,431,843 (GRCm38) |
T91I |
probably benign |
Het |
| Tnfsf14 |
A |
G |
17: 57,190,807 (GRCm38) |
Y142H |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,662,114 (GRCm38) |
D68G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,762,287 (GRCm38) |
S12507T |
probably damaging |
Het |
| Tubgcp2 |
T |
A |
7: 140,006,153 (GRCm38) |
M408L |
probably benign |
Het |
| Usp34 |
A |
T |
11: 23,364,503 (GRCm38) |
H815L |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,441,519 (GRCm38) |
R746H |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,816,979 (GRCm38) |
S358P |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,592,882 (GRCm38) |
T674I |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,802,383 (GRCm38) |
H199Q |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,847,522 (GRCm38) |
V420A |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,378,815 (GRCm38) |
T254S |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,901,669 (GRCm38) |
H132R |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,989,088 (GRCm38) |
E25G |
probably damaging |
Het |
| Zfp951 |
T |
A |
5: 104,817,000 (GRCm38) |
I67L |
possibly damaging |
Het |
|
| Other mutations in Ptpro |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Ptpro
|
APN |
6 |
137,394,909 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00844:Ptpro
|
APN |
6 |
137,414,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00983:Ptpro
|
APN |
6 |
137,418,248 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01073:Ptpro
|
APN |
6 |
137,377,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01832:Ptpro
|
APN |
6 |
137,393,668 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02308:Ptpro
|
APN |
6 |
137,454,700 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02387:Ptpro
|
APN |
6 |
137,410,980 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02605:Ptpro
|
APN |
6 |
137,380,318 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02666:Ptpro
|
APN |
6 |
137,378,059 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03275:Ptpro
|
APN |
6 |
137,450,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Brau
|
UTSW |
6 |
137,454,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
court
|
UTSW |
6 |
137,393,675 (GRCm38) |
nonsense |
probably null |
|
|
Hoff
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Jester
|
UTSW |
6 |
137,449,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
mann
|
UTSW |
6 |
137,411,116 (GRCm38) |
splice site |
probably null |
|
|
R0017:Ptpro
|
UTSW |
6 |
137,416,827 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0017:Ptpro
|
UTSW |
6 |
137,416,827 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0020:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0022:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0023:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0024:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0094:Ptpro
|
UTSW |
6 |
137,386,352 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0094:Ptpro
|
UTSW |
6 |
137,386,352 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0103:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0106:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0316:Ptpro
|
UTSW |
6 |
137,376,989 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0427:Ptpro
|
UTSW |
6 |
137,368,296 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0456:Ptpro
|
UTSW |
6 |
137,414,230 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0536:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0537:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0552:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0664:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0708:Ptpro
|
UTSW |
6 |
137,386,253 (GRCm38) |
missense |
probably benign |
0.26 |
|
R0730:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0735:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0738:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0786:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0811:Ptpro
|
UTSW |
6 |
137,368,079 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0812:Ptpro
|
UTSW |
6 |
137,368,079 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0881:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1146:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1146:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1259:Ptpro
|
UTSW |
6 |
137,392,741 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1340:Ptpro
|
UTSW |
6 |
137,441,081 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1381:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1382:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1385:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1401:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1416:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1448:Ptpro
|
UTSW |
6 |
137,441,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1513:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1518:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1526:Ptpro
|
UTSW |
6 |
137,461,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1540:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1571:Ptpro
|
UTSW |
6 |
137,378,130 (GRCm38) |
missense |
probably benign |
|
|
R1573:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1587:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1588:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1649:Ptpro
|
UTSW |
6 |
137,444,017 (GRCm38) |
nonsense |
probably null |
|
|
R1700:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1701:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1745:Ptpro
|
UTSW |
6 |
137,400,645 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1772:Ptpro
|
UTSW |
6 |
137,430,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1911:Ptpro
|
UTSW |
6 |
137,400,619 (GRCm38) |
splice site |
probably benign |
|
|
R1958:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2025:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2026:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2040:Ptpro
|
UTSW |
6 |
137,386,164 (GRCm38) |
splice site |
probably benign |
|
|
R2115:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2130:Ptpro
|
UTSW |
6 |
137,411,116 (GRCm38) |
splice site |
probably null |
|
|
R2161:Ptpro
|
UTSW |
6 |
137,449,887 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2431:Ptpro
|
UTSW |
6 |
137,443,585 (GRCm38) |
nonsense |
probably null |
|
|
R2915:Ptpro
|
UTSW |
6 |
137,414,241 (GRCm38) |
start gained |
probably benign |
|
|
R2988:Ptpro
|
UTSW |
6 |
137,443,599 (GRCm38) |
nonsense |
probably null |
|
|
R3772:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3773:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3795:Ptpro
|
UTSW |
6 |
137,380,309 (GRCm38) |
missense |
probably benign |
|
|
R3885:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3886:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3887:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3888:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Ptpro
|
UTSW |
6 |
137,461,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4133:Ptpro
|
UTSW |
6 |
137,420,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4377:Ptpro
|
UTSW |
6 |
137,380,266 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4455:Ptpro
|
UTSW |
6 |
137,393,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Ptpro
|
UTSW |
6 |
137,416,836 (GRCm38) |
nonsense |
probably null |
|
|
R4827:Ptpro
|
UTSW |
6 |
137,442,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4863:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4870:Ptpro
|
UTSW |
6 |
137,377,132 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4910:Ptpro
|
UTSW |
6 |
137,368,338 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4932:Ptpro
|
UTSW |
6 |
137,411,105 (GRCm38) |
nonsense |
probably null |
|
|
R4941:Ptpro
|
UTSW |
6 |
137,392,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4989:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5009:Ptpro
|
UTSW |
6 |
137,377,132 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5032:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5033:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5162:Ptpro
|
UTSW |
6 |
137,443,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5393:Ptpro
|
UTSW |
6 |
137,380,224 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5423:Ptpro
|
UTSW |
6 |
137,442,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5782:Ptpro
|
UTSW |
6 |
137,399,498 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6103:Ptpro
|
UTSW |
6 |
137,400,706 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6239:Ptpro
|
UTSW |
6 |
137,380,608 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6488:Ptpro
|
UTSW |
6 |
137,393,675 (GRCm38) |
nonsense |
probably null |
|
|
R6494:Ptpro
|
UTSW |
6 |
137,382,642 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6746:Ptpro
|
UTSW |
6 |
137,394,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6763:Ptpro
|
UTSW |
6 |
137,418,281 (GRCm38) |
splice site |
probably null |
|
|
R6888:Ptpro
|
UTSW |
6 |
137,380,200 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6983:Ptpro
|
UTSW |
6 |
137,449,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7019:Ptpro
|
UTSW |
6 |
137,380,478 (GRCm38) |
missense |
probably benign |
|
|
R7218:Ptpro
|
UTSW |
6 |
137,454,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7236:Ptpro
|
UTSW |
6 |
137,368,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7299:Ptpro
|
UTSW |
6 |
137,441,144 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7381:Ptpro
|
UTSW |
6 |
137,399,561 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7493:Ptpro
|
UTSW |
6 |
137,382,649 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7733:Ptpro
|
UTSW |
6 |
137,414,286 (GRCm38) |
nonsense |
probably null |
|
|
R7793:Ptpro
|
UTSW |
6 |
137,416,820 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7804:Ptpro
|
UTSW |
6 |
137,399,601 (GRCm38) |
splice site |
probably null |
|
|
R7833:Ptpro
|
UTSW |
6 |
137,416,863 (GRCm38) |
nonsense |
probably null |
|
|
R7859:Ptpro
|
UTSW |
6 |
137,392,807 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7873:Ptpro
|
UTSW |
6 |
137,430,739 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8042:Ptpro
|
UTSW |
6 |
137,416,883 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8859:Ptpro
|
UTSW |
6 |
137,426,784 (GRCm38) |
nonsense |
probably null |
|
|
R8979:Ptpro
|
UTSW |
6 |
137,368,142 (GRCm38) |
missense |
probably benign |
|
|
R9138:Ptpro
|
UTSW |
6 |
137,411,115 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9309:Ptpro
|
UTSW |
6 |
137,454,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9420:Ptpro
|
UTSW |
6 |
137,443,935 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9612:Ptpro
|
UTSW |
6 |
137,414,320 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9625:Ptpro
|
UTSW |
6 |
137,394,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9697:Ptpro
|
UTSW |
6 |
137,386,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9715:Ptpro
|
UTSW |
6 |
137,368,110 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Ptpro
|
UTSW |
6 |
137,378,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCCCTTAGACAAGTGTGG -3'
(R):5'- TTCTGCAATGTGAGGAAAGTAGTTG -3'
Sequencing Primer
(F):5'- CCCTTAGACAAGTGTGGGTGTTG -3'
(R):5'- ATCCTAGTGGTAGAGTACTTGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation