Incidental Mutation 'R1992:Ptprz1'
| ID |
223608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprz1
|
| Ensembl Gene |
ENSMUSG00000068748 |
| Gene Name |
protein tyrosine phosphatase receptor type Z, polypeptide 1 |
| Synonyms |
DSD-1-PG, phosphacan, Ptprz, Ptpz, PTPzeta, Rptpbeta, RPTPz, PTPbeta |
| MMRRC Submission |
040003-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R1992 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
22875501-23052915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22959747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 81
(K81N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090568]
[ENSMUST00000202102]
[ENSMUST00000202579]
|
| AlphaFold |
B9EKR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090568
AA Change: K81N
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: K81N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
38 |
300 |
5.12e-99 |
SMART |
|
FN3
|
312 |
397 |
5.53e-4 |
SMART |
|
low complexity region
|
588 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
825 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
1417 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1485 |
1495 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
1497 |
1573 |
1e-12 |
BLAST |
|
low complexity region
|
1606 |
1620 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1637 |
1659 |
N/A |
INTRINSIC |
|
low complexity region
|
1679 |
1693 |
N/A |
INTRINSIC |
|
PTPc
|
1720 |
1991 |
2.8e-130 |
SMART |
|
PTPc
|
2019 |
2281 |
1.65e-77 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202102
AA Change: K81N
|
| SMART Domains |
Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748
AA Change: K81N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
38 |
300 |
5.12e-99 |
SMART |
|
FN3
|
312 |
397 |
5.53e-4 |
SMART |
|
low complexity region
|
588 |
609 |
N/A |
INTRINSIC |
|
transmembrane domain
|
788 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
844 |
N/A |
INTRINSIC |
|
PTPc
|
871 |
1142 |
2.8e-130 |
SMART |
|
PTPc
|
1170 |
1432 |
1.65e-77 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202579
AA Change: K81N
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144605
Gene: ENSMUSG00000068748
AA Change: K81N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
38 |
300 |
4e-103 |
SMART |
|
FN3
|
312 |
397 |
2.8e-6 |
SMART |
|
low complexity region
|
588 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
825 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
1417 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1485 |
1495 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| 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 receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for targeted null mutations demonstrate an impaired ability to recover from inflamatory lesions of the CNS or gastric mucosa. Mice homozygous for a knock-out allele exhibit increased tactile and thermal nociception thresholds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
C |
1: 138,781,380 (GRCm39) |
T90A |
probably damaging |
Het |
| A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,795,581 (GRCm39) |
I446F |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,080,176 (GRCm39) |
K16R |
probably benign |
Het |
| Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,522,880 (GRCm39) |
I217T |
possibly damaging |
Het |
| Afap1l1 |
A |
T |
18: 61,874,842 (GRCm39) |
Y446* |
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,843,548 (GRCm39) |
A14V |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,535,586 (GRCm39) |
H143Y |
probably damaging |
Het |
| Aldh2 |
A |
T |
5: 121,714,026 (GRCm39) |
V207E |
possibly damaging |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,703 (GRCm39) |
H234Q |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,986,861 (GRCm39) |
E230G |
probably damaging |
Het |
| Arrdc3 |
G |
A |
13: 81,031,808 (GRCm39) |
D14N |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,722,291 (GRCm39) |
|
probably benign |
Het |
| Atxn7l1 |
G |
A |
12: 33,408,743 (GRCm39) |
D302N |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,941,736 (GRCm39) |
H518L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,054,181 (GRCm39) |
H3100L |
probably benign |
Het |
| Bmpr1a |
C |
A |
14: 34,147,050 (GRCm39) |
G241C |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,622,318 (GRCm39) |
P222L |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,855 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,093 (GRCm39) |
H173R |
possibly damaging |
Het |
| Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
| Card14 |
A |
T |
11: 119,212,647 (GRCm39) |
|
probably null |
Het |
| Cd3d |
T |
A |
9: 44,896,299 (GRCm39) |
Y29* |
probably null |
Het |
| Cd4 |
A |
G |
6: 124,844,651 (GRCm39) |
V378A |
possibly damaging |
Het |
| Cluh |
A |
T |
11: 74,550,828 (GRCm39) |
H318L |
probably damaging |
Het |
| Clvs1 |
T |
A |
4: 9,281,899 (GRCm39) |
D114E |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,000,344 (GRCm39) |
T548S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Cr2 |
G |
A |
1: 194,836,458 (GRCm39) |
P1278S |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,946,561 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
G |
1: 53,621,835 (GRCm39) |
K1097Q |
possibly damaging |
Het |
| Doc2a |
T |
A |
7: 126,450,979 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,832,833 (GRCm39) |
V48E |
probably null |
Het |
| Dsg2 |
A |
G |
18: 20,734,530 (GRCm39) |
K836R |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,375,857 (GRCm39) |
V164A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,970,221 (GRCm39) |
S1132T |
probably benign |
Het |
| Espn |
T |
A |
4: 152,213,012 (GRCm39) |
|
probably null |
Het |
| Fam83b |
A |
G |
9: 76,399,304 (GRCm39) |
S600P |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,024,551 (GRCm39) |
N425K |
possibly damaging |
Het |
| Flot2 |
C |
T |
11: 77,949,445 (GRCm39) |
L294F |
probably damaging |
Het |
| Frs2 |
A |
G |
10: 116,910,459 (GRCm39) |
V301A |
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Fxr2 |
A |
G |
11: 69,540,659 (GRCm39) |
E339G |
possibly damaging |
Het |
| Gck |
T |
C |
11: 5,856,515 (GRCm39) |
Y214C |
probably damaging |
Het |
| Golga3 |
C |
G |
5: 110,340,839 (GRCm39) |
T551R |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,625 (GRCm39) |
S59P |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,185,102 (GRCm39) |
V451M |
probably damaging |
Het |
| H2-T13 |
A |
C |
17: 36,391,938 (GRCm39) |
I216S |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,081,743 (GRCm39) |
V22E |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
A |
T |
6: 52,141,576 (GRCm39) |
S17T |
probably damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,708,882 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ism1 |
G |
A |
2: 139,587,937 (GRCm39) |
V221I |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,261,631 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,978 (GRCm39) |
K711E |
probably damaging |
Het |
| Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,350,488 (GRCm39) |
S3792P |
probably damaging |
Het |
| Maml3 |
C |
T |
3: 51,598,178 (GRCm39) |
M189I |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
| Mep1a |
T |
G |
17: 43,813,573 (GRCm39) |
I13L |
probably benign |
Het |
| Mkrn2 |
G |
T |
6: 115,586,562 (GRCm39) |
C16F |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,057,631 (GRCm39) |
A727T |
probably damaging |
Het |
| Muc21 |
A |
T |
17: 35,929,600 (GRCm39) |
S1529T |
probably benign |
Het |
| Naa16 |
T |
C |
14: 79,593,931 (GRCm39) |
Y344C |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,752,628 (GRCm39) |
Y585F |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,587,753 (GRCm39) |
K149R |
probably damaging |
Het |
| Nufip1 |
T |
A |
14: 76,372,287 (GRCm39) |
I467N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,632,960 (GRCm39) |
I1057T |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,886,653 (GRCm39) |
|
probably benign |
Het |
| Or10ag52 |
T |
A |
2: 87,043,588 (GRCm39) |
C117* |
probably null |
Het |
| Or5k1 |
A |
G |
16: 58,617,309 (GRCm39) |
V300A |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,692,874 (GRCm39) |
I213R |
probably benign |
Het |
| Pi4k2a |
A |
T |
19: 42,104,377 (GRCm39) |
I380F |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,207,733 (GRCm39) |
L1426Q |
probably null |
Het |
| Pik3cg |
A |
T |
12: 32,254,024 (GRCm39) |
D654E |
possibly damaging |
Het |
| Poli |
G |
T |
18: 70,642,058 (GRCm39) |
P714Q |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Prorp |
A |
G |
12: 55,384,991 (GRCm39) |
D89G |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,271,948 (GRCm39) |
|
probably null |
Het |
| Sec24a |
C |
T |
11: 51,627,190 (GRCm39) |
V241I |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,950,567 (GRCm39) |
T160A |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,375 (GRCm39) |
I497T |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,690,532 (GRCm39) |
D512V |
probably damaging |
Het |
| Slc43a3 |
C |
T |
2: 84,788,084 (GRCm39) |
R489C |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,452,089 (GRCm39) |
F327L |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,957,104 (GRCm39) |
V556A |
possibly damaging |
Het |
| Spata6l |
A |
G |
19: 28,926,024 (GRCm39) |
F130L |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,178,281 (GRCm39) |
E180G |
probably benign |
Het |
| Spint2 |
T |
A |
7: 28,958,833 (GRCm39) |
N128Y |
probably damaging |
Het |
| Spx |
G |
A |
6: 142,364,245 (GRCm39) |
G102E |
probably benign |
Het |
| Spz1 |
T |
A |
13: 92,712,166 (GRCm39) |
E103D |
possibly damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,495 (GRCm39) |
I138T |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,000,448 (GRCm39) |
I206N |
possibly damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,791 (GRCm39) |
T388A |
probably benign |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,344 (GRCm39) |
A121S |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,572 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,912 (GRCm39) |
D405E |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,890,878 (GRCm39) |
V407A |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
| Trim43a |
T |
G |
9: 88,466,312 (GRCm39) |
L211R |
probably damaging |
Het |
| Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,424,188 (GRCm39) |
S1485L |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,798,654 (GRCm39) |
T694A |
probably benign |
Het |
| Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,953,535 (GRCm39) |
A823V |
probably damaging |
Het |
| Ubqln5 |
C |
A |
7: 103,778,741 (GRCm39) |
V28F |
probably damaging |
Het |
| Ulk1 |
T |
A |
5: 110,935,017 (GRCm39) |
Q972L |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,994,062 (GRCm39) |
Y398H |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,531 (GRCm39) |
D615G |
probably benign |
Het |
| Utp15 |
A |
G |
13: 98,387,420 (GRCm39) |
C385R |
probably benign |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,142 (GRCm39) |
V603D |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt8a |
A |
G |
18: 34,677,937 (GRCm39) |
D115G |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,341,645 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
T |
2: 163,853,807 (GRCm39) |
I95F |
probably damaging |
Het |
| Zfp143 |
C |
T |
7: 109,660,489 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
C |
G |
7: 27,401,949 (GRCm39) |
T135R |
possibly damaging |
Het |
| Zfp970 |
A |
G |
2: 177,166,663 (GRCm39) |
Q79R |
possibly damaging |
Het |
|
| Other mutations in Ptprz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Ptprz1
|
APN |
6 |
22,973,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00773:Ptprz1
|
APN |
6 |
23,002,628 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01458:Ptprz1
|
APN |
6 |
22,972,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01481:Ptprz1
|
APN |
6 |
22,999,979 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01501:Ptprz1
|
APN |
6 |
22,973,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Ptprz1
|
APN |
6 |
23,000,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01882:Ptprz1
|
APN |
6 |
23,000,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Ptprz1
|
APN |
6 |
23,002,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02089:Ptprz1
|
APN |
6 |
23,033,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Ptprz1
|
APN |
6 |
22,972,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Ptprz1
|
APN |
6 |
22,965,181 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02220:Ptprz1
|
APN |
6 |
23,042,742 (GRCm39) |
splice site |
probably benign |
|
|
IGL02556:Ptprz1
|
APN |
6 |
22,972,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02601:Ptprz1
|
APN |
6 |
23,000,686 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02620:Ptprz1
|
APN |
6 |
22,959,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Ptprz1
|
APN |
6 |
23,001,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02718:Ptprz1
|
APN |
6 |
23,001,348 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02792:Ptprz1
|
APN |
6 |
22,959,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02894:Ptprz1
|
APN |
6 |
23,035,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Ptprz1
|
APN |
6 |
23,036,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Ptprz1
|
APN |
6 |
23,002,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03060:Ptprz1
|
APN |
6 |
22,972,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03170:Ptprz1
|
APN |
6 |
22,959,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03246:Ptprz1
|
APN |
6 |
22,986,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03349:Ptprz1
|
APN |
6 |
23,000,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Ptprz1
|
APN |
6 |
23,030,581 (GRCm39) |
splice site |
probably benign |
|
|
Elevator
|
UTSW |
6 |
23,030,661 (GRCm39) |
missense |
probably benign |
0.03 |
|
escalator
|
UTSW |
6 |
22,986,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Ptprz1
|
UTSW |
6 |
23,007,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Ptprz1
|
UTSW |
6 |
22,986,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Ptprz1
|
UTSW |
6 |
22,986,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Ptprz1
|
UTSW |
6 |
23,000,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0278:Ptprz1
|
UTSW |
6 |
23,000,816 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0345:Ptprz1
|
UTSW |
6 |
23,016,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Ptprz1
|
UTSW |
6 |
22,973,175 (GRCm39) |
splice site |
probably benign |
|
|
R0743:Ptprz1
|
UTSW |
6 |
23,044,366 (GRCm39) |
nonsense |
probably null |
|
|
R1014:Ptprz1
|
UTSW |
6 |
23,000,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Ptprz1
|
UTSW |
6 |
23,000,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1106:Ptprz1
|
UTSW |
6 |
22,965,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1391:Ptprz1
|
UTSW |
6 |
23,001,728 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1424:Ptprz1
|
UTSW |
6 |
23,000,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1445:Ptprz1
|
UTSW |
6 |
23,050,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Ptprz1
|
UTSW |
6 |
23,049,523 (GRCm39) |
splice site |
probably benign |
|
|
R1544:Ptprz1
|
UTSW |
6 |
23,000,747 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1626:Ptprz1
|
UTSW |
6 |
23,001,573 (GRCm39) |
missense |
probably benign |
|
|
R1641:Ptprz1
|
UTSW |
6 |
23,049,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Ptprz1
|
UTSW |
6 |
23,044,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Ptprz1
|
UTSW |
6 |
22,959,711 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1917:Ptprz1
|
UTSW |
6 |
23,035,039 (GRCm39) |
splice site |
probably benign |
|
|
R1930:Ptprz1
|
UTSW |
6 |
23,007,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Ptprz1
|
UTSW |
6 |
23,007,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Ptprz1
|
UTSW |
6 |
22,986,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Ptprz1
|
UTSW |
6 |
23,050,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2002:Ptprz1
|
UTSW |
6 |
23,027,833 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Ptprz1
|
UTSW |
6 |
23,001,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2059:Ptprz1
|
UTSW |
6 |
22,986,322 (GRCm39) |
splice site |
probably benign |
|
|
R2061:Ptprz1
|
UTSW |
6 |
23,049,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2064:Ptprz1
|
UTSW |
6 |
23,050,388 (GRCm39) |
splice site |
probably benign |
|
|
R2067:Ptprz1
|
UTSW |
6 |
23,050,388 (GRCm39) |
splice site |
probably benign |
|
|
R2108:Ptprz1
|
UTSW |
6 |
23,033,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2152:Ptprz1
|
UTSW |
6 |
23,030,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2166:Ptprz1
|
UTSW |
6 |
23,045,632 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2183:Ptprz1
|
UTSW |
6 |
23,002,284 (GRCm39) |
missense |
probably benign |
|
|
R2202:Ptprz1
|
UTSW |
6 |
23,000,649 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2238:Ptprz1
|
UTSW |
6 |
22,987,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Ptprz1
|
UTSW |
6 |
23,000,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Ptprz1
|
UTSW |
6 |
23,016,196 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3861:Ptprz1
|
UTSW |
6 |
23,036,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4012:Ptprz1
|
UTSW |
6 |
23,002,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4020:Ptprz1
|
UTSW |
6 |
22,959,623 (GRCm39) |
splice site |
probably benign |
|
|
R4158:Ptprz1
|
UTSW |
6 |
23,022,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4158:Ptprz1
|
UTSW |
6 |
23,001,683 (GRCm39) |
nonsense |
probably null |
|
|
R4159:Ptprz1
|
UTSW |
6 |
23,001,683 (GRCm39) |
nonsense |
probably null |
|
|
R4160:Ptprz1
|
UTSW |
6 |
23,022,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4606:Ptprz1
|
UTSW |
6 |
23,001,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4621:Ptprz1
|
UTSW |
6 |
23,001,453 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4640:Ptprz1
|
UTSW |
6 |
22,972,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Ptprz1
|
UTSW |
6 |
23,002,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4732:Ptprz1
|
UTSW |
6 |
23,002,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4733:Ptprz1
|
UTSW |
6 |
23,002,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4803:Ptprz1
|
UTSW |
6 |
23,001,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Ptprz1
|
UTSW |
6 |
23,024,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Ptprz1
|
UTSW |
6 |
23,016,214 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5052:Ptprz1
|
UTSW |
6 |
23,045,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Ptprz1
|
UTSW |
6 |
23,000,027 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5248:Ptprz1
|
UTSW |
6 |
23,001,900 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5292:Ptprz1
|
UTSW |
6 |
23,002,581 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5373:Ptprz1
|
UTSW |
6 |
23,007,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Ptprz1
|
UTSW |
6 |
23,007,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Ptprz1
|
UTSW |
6 |
23,007,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Ptprz1
|
UTSW |
6 |
23,002,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Ptprz1
|
UTSW |
6 |
23,001,665 (GRCm39) |
missense |
probably benign |
|
|
R5524:Ptprz1
|
UTSW |
6 |
22,986,317 (GRCm39) |
splice site |
probably null |
|
|
R5527:Ptprz1
|
UTSW |
6 |
23,000,052 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5557:Ptprz1
|
UTSW |
6 |
23,001,000 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5654:Ptprz1
|
UTSW |
6 |
22,986,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Ptprz1
|
UTSW |
6 |
22,999,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5658:Ptprz1
|
UTSW |
6 |
23,016,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Ptprz1
|
UTSW |
6 |
23,035,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Ptprz1
|
UTSW |
6 |
23,000,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Ptprz1
|
UTSW |
6 |
23,001,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5837:Ptprz1
|
UTSW |
6 |
23,001,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6108:Ptprz1
|
UTSW |
6 |
23,045,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Ptprz1
|
UTSW |
6 |
23,002,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6245:Ptprz1
|
UTSW |
6 |
23,051,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Ptprz1
|
UTSW |
6 |
22,959,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Ptprz1
|
UTSW |
6 |
23,001,516 (GRCm39) |
nonsense |
probably null |
|
|
R6606:Ptprz1
|
UTSW |
6 |
23,002,500 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6612:Ptprz1
|
UTSW |
6 |
23,052,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Ptprz1
|
UTSW |
6 |
23,002,130 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6834:Ptprz1
|
UTSW |
6 |
22,999,632 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6836:Ptprz1
|
UTSW |
6 |
23,030,664 (GRCm39) |
nonsense |
probably null |
|
|
R6991:Ptprz1
|
UTSW |
6 |
23,002,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7044:Ptprz1
|
UTSW |
6 |
23,044,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Ptprz1
|
UTSW |
6 |
22,961,622 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7225:Ptprz1
|
UTSW |
6 |
23,000,928 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7284:Ptprz1
|
UTSW |
6 |
23,000,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Ptprz1
|
UTSW |
6 |
23,000,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Ptprz1
|
UTSW |
6 |
23,001,746 (GRCm39) |
nonsense |
probably null |
|
|
R7515:Ptprz1
|
UTSW |
6 |
23,022,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Ptprz1
|
UTSW |
6 |
22,999,895 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7567:Ptprz1
|
UTSW |
6 |
22,959,779 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7599:Ptprz1
|
UTSW |
6 |
23,002,518 (GRCm39) |
missense |
not run |
|
|
R7611:Ptprz1
|
UTSW |
6 |
23,001,219 (GRCm39) |
missense |
probably benign |
|
|
R7685:Ptprz1
|
UTSW |
6 |
23,024,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Ptprz1
|
UTSW |
6 |
23,002,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7733:Ptprz1
|
UTSW |
6 |
23,000,383 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7786:Ptprz1
|
UTSW |
6 |
23,036,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7868:Ptprz1
|
UTSW |
6 |
23,000,963 (GRCm39) |
missense |
not run |
|
|
R7882:Ptprz1
|
UTSW |
6 |
23,002,256 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7968:Ptprz1
|
UTSW |
6 |
22,959,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8024:Ptprz1
|
UTSW |
6 |
23,042,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Ptprz1
|
UTSW |
6 |
23,002,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Ptprz1
|
UTSW |
6 |
23,001,662 (GRCm39) |
missense |
probably benign |
|
|
R8354:Ptprz1
|
UTSW |
6 |
22,999,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8496:Ptprz1
|
UTSW |
6 |
22,972,797 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8757:Ptprz1
|
UTSW |
6 |
22,972,716 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8767:Ptprz1
|
UTSW |
6 |
22,986,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Ptprz1
|
UTSW |
6 |
23,002,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8811:Ptprz1
|
UTSW |
6 |
23,030,661 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8817:Ptprz1
|
UTSW |
6 |
23,007,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Ptprz1
|
UTSW |
6 |
23,002,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8874:Ptprz1
|
UTSW |
6 |
23,042,747 (GRCm39) |
missense |
|
|
|
R9009:Ptprz1
|
UTSW |
6 |
23,001,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9126:Ptprz1
|
UTSW |
6 |
23,002,334 (GRCm39) |
nonsense |
probably null |
|
|
R9201:Ptprz1
|
UTSW |
6 |
22,972,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9210:Ptprz1
|
UTSW |
6 |
23,050,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9212:Ptprz1
|
UTSW |
6 |
23,050,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9229:Ptprz1
|
UTSW |
6 |
22,986,283 (GRCm39) |
missense |
probably null |
0.03 |
|
R9279:Ptprz1
|
UTSW |
6 |
23,002,444 (GRCm39) |
missense |
probably benign |
|
|
R9336:Ptprz1
|
UTSW |
6 |
23,000,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9372:Ptprz1
|
UTSW |
6 |
23,045,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Ptprz1
|
UTSW |
6 |
23,002,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Ptprz1
|
UTSW |
6 |
23,025,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9632:Ptprz1
|
UTSW |
6 |
23,007,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Ptprz1
|
UTSW |
6 |
22,999,994 (GRCm39) |
missense |
probably benign |
|
|
R9657:Ptprz1
|
UTSW |
6 |
23,042,377 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9694:Ptprz1
|
UTSW |
6 |
22,959,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Ptprz1
|
UTSW |
6 |
22,959,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Ptprz1
|
UTSW |
6 |
23,000,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Ptprz1
|
UTSW |
6 |
23,051,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ptprz1
|
UTSW |
6 |
23,052,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ptprz1
|
UTSW |
6 |
22,999,839 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTAAAACCCAGCCTC -3'
(R):5'- TACCATCGGCCTCTGTTCAG -3'
Sequencing Primer
(F):5'- GGCATTTAAAACCCAGCCTCTAATC -3'
(R):5'- GGCCTCTGTTCAGTTCCTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation