Incidental Mutation 'R6028:Ptprf'
| ID |
480165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprf
|
| Ensembl Gene |
ENSMUSG00000033295 |
| Gene Name |
protein tyrosine phosphatase receptor type F |
| Synonyms |
RPTP-LAR, LAR |
| MMRRC Submission |
044200-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R6028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118070826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1391
(V1391D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049074]
|
| AlphaFold |
A2A8L5 |
| PDB Structure |
Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049074
AA Change: V1391D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: V1391D
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
45 |
114 |
2.64e-12 |
SMART |
|
IGc2
|
147 |
214 |
1.48e-15 |
SMART |
|
IG
|
238 |
316 |
1.06e-11 |
SMART |
|
FN3
|
319 |
398 |
6.9e-14 |
SMART |
|
FN3
|
414 |
497 |
5.73e-11 |
SMART |
|
FN3
|
512 |
591 |
4.06e-11 |
SMART |
|
FN3
|
606 |
693 |
8.69e-11 |
SMART |
|
FN3
|
709 |
797 |
8.83e-12 |
SMART |
|
FN3
|
812 |
892 |
3.2e-9 |
SMART |
|
FN3
|
907 |
988 |
2.53e-12 |
SMART |
|
FN3
|
1003 |
1079 |
3.48e-1 |
SMART |
|
coiled coil region
|
1146 |
1175 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1253 |
1275 |
N/A |
INTRINSIC |
|
PTPc
|
1342 |
1600 |
1.12e-138 |
SMART |
|
PTPc
|
1629 |
1891 |
3.4e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123484
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124758
AA Change: V824D
|
| SMART Domains |
Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: V824D
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
37 |
116 |
4.06e-11 |
SMART |
|
FN3
|
132 |
220 |
8.83e-12 |
SMART |
|
FN3
|
235 |
315 |
3.2e-9 |
SMART |
|
FN3
|
330 |
411 |
2.53e-12 |
SMART |
|
FN3
|
426 |
502 |
3.48e-1 |
SMART |
|
coiled coil region
|
568 |
597 |
N/A |
INTRINSIC |
|
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
PTPc
|
776 |
1034 |
1.12e-138 |
SMART |
|
PTPc
|
1063 |
1325 |
3.4e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127616
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150096
AA Change: V783D
|
| SMART Domains |
Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: V783D
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
14 |
66 |
2.7e1 |
SMART |
|
FN3
|
82 |
165 |
5.73e-11 |
SMART |
|
FN3
|
180 |
259 |
4.06e-11 |
SMART |
|
FN3
|
275 |
372 |
6.69e-12 |
SMART |
|
FN3
|
385 |
461 |
2.83e-1 |
SMART |
|
coiled coil region
|
527 |
556 |
N/A |
INTRINSIC |
|
transmembrane domain
|
635 |
657 |
N/A |
INTRINSIC |
|
PTPc
|
735 |
993 |
1.12e-138 |
SMART |
|
PTPc
|
1022 |
1284 |
3.4e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184953
|
| Meta Mutation Damage Score |
0.3389 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| 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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups. Other characteristics of null mice include defective nerve regeneration and hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
A |
3: 36,533,718 (GRCm39) |
|
probably null |
Het |
| Acat1 |
A |
T |
9: 53,503,366 (GRCm39) |
Y158N |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,260,561 (GRCm39) |
A924E |
probably damaging |
Het |
| Adck1 |
A |
T |
12: 88,368,902 (GRCm39) |
M127L |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alad |
G |
T |
4: 62,428,359 (GRCm39) |
T305K |
probably benign |
Het |
| Ankrd33 |
T |
C |
15: 101,016,953 (GRCm39) |
F65S |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,558,761 (GRCm39) |
N281S |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,888 (GRCm39) |
D754G |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,993,914 (GRCm39) |
D438G |
probably damaging |
Het |
| Cachd1 |
C |
A |
4: 100,840,753 (GRCm39) |
N905K |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,370,314 (GRCm39) |
D160E |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,889,410 (GRCm39) |
S298T |
probably benign |
Het |
| Cplx3 |
A |
G |
9: 57,515,546 (GRCm39) |
I443T |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,387,979 (GRCm39) |
M3146K |
probably damaging |
Het |
| Doc2b |
C |
A |
11: 75,663,412 (GRCm39) |
A347S |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,660,481 (GRCm39) |
|
probably null |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,131 (GRCm39) |
D137E |
possibly damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,937,746 (GRCm39) |
F422S |
possibly damaging |
Het |
| Esm1 |
A |
G |
13: 113,353,201 (GRCm39) |
N161S |
possibly damaging |
Het |
| Fbxw10 |
C |
T |
11: 62,764,345 (GRCm39) |
Q671* |
probably null |
Het |
| Fnbp4 |
C |
A |
2: 90,581,478 (GRCm39) |
T177K |
probably benign |
Het |
| Gpr137c |
C |
A |
14: 45,514,938 (GRCm39) |
Q266K |
probably damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,188,837 (GRCm39) |
K25N |
probably null |
Het |
| Klhl29 |
G |
T |
12: 5,140,995 (GRCm39) |
Y616* |
probably null |
Het |
| Lmnb1 |
T |
G |
18: 56,876,348 (GRCm39) |
Y485* |
probably null |
Het |
| Lrrc63 |
A |
G |
14: 75,323,614 (GRCm39) |
S537P |
possibly damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,831,626 (GRCm39) |
N1686I |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,287,555 (GRCm39) |
|
probably null |
Het |
| Marco |
T |
A |
1: 120,418,671 (GRCm39) |
Q194L |
probably damaging |
Het |
| Mc3r |
A |
T |
2: 172,091,129 (GRCm39) |
D117V |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,706,294 (GRCm39) |
D259E |
possibly damaging |
Het |
| Mical1 |
A |
T |
10: 41,362,873 (GRCm39) |
M973L |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,280,443 (GRCm39) |
T176A |
probably benign |
Het |
| Mterf1b |
T |
A |
5: 4,247,666 (GRCm39) |
|
probably null |
Het |
| Muc16 |
G |
A |
9: 18,568,472 (GRCm39) |
S1349F |
unknown |
Het |
| Nacc2 |
A |
G |
2: 25,951,590 (GRCm39) |
V415A |
probably damaging |
Het |
| Ncl |
A |
G |
1: 86,283,855 (GRCm39) |
V322A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,083,243 (GRCm39) |
T1639I |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,488 (GRCm39) |
H485R |
possibly damaging |
Het |
| Nlrp9a |
C |
T |
7: 26,257,762 (GRCm39) |
T460I |
probably benign |
Het |
| Or8g24 |
T |
A |
9: 38,989,379 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k32 |
T |
A |
2: 86,369,113 (GRCm39) |
I49F |
possibly damaging |
Het |
| Patl2 |
T |
A |
2: 121,956,618 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,616,085 (GRCm39) |
D270G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,786,267 (GRCm39) |
H1929R |
probably benign |
Het |
| Plekhh3 |
A |
T |
11: 101,057,396 (GRCm39) |
M287K |
probably damaging |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Popdc3 |
A |
G |
10: 45,194,015 (GRCm39) |
D272G |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,043,757 (GRCm39) |
D121E |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,576,491 (GRCm39) |
L131Q |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,875,392 (GRCm39) |
C197S |
probably damaging |
Het |
| Purb |
A |
G |
11: 6,425,150 (GRCm39) |
F246S |
probably damaging |
Het |
| Rgs8 |
C |
A |
1: 153,566,734 (GRCm39) |
T95N |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,160,319 (GRCm39) |
N545S |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,344 (GRCm39) |
W51R |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,664,635 (GRCm39) |
Q490R |
probably null |
Het |
| Strbp |
G |
A |
2: 37,515,267 (GRCm39) |
T253I |
probably damaging |
Het |
| Sult1d1 |
A |
T |
5: 87,707,685 (GRCm39) |
M145K |
probably damaging |
Het |
| Taf5l |
A |
C |
8: 124,729,714 (GRCm39) |
|
probably null |
Het |
| Tas2r131 |
T |
G |
6: 132,934,639 (GRCm39) |
I57L |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,108,176 (GRCm39) |
N77S |
possibly damaging |
Het |
| Tmem253 |
A |
G |
14: 52,255,268 (GRCm39) |
T57A |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,941,111 (GRCm39) |
N130S |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,530,460 (GRCm39) |
S2118G |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,698 (GRCm39) |
T334S |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,229,821 (GRCm39) |
A901E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,284,275 (GRCm39) |
T947A |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,520,135 (GRCm39) |
P419L |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,549 (GRCm39) |
S258P |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,116,563 (GRCm39) |
T388A |
unknown |
Het |
|
| Other mutations in Ptprf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ptprf
|
APN |
4 |
118,080,417 (GRCm39) |
splice site |
probably benign |
|
|
IGL01337:Ptprf
|
APN |
4 |
118,093,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Ptprf
|
APN |
4 |
118,069,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Ptprf
|
APN |
4 |
118,106,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01987:Ptprf
|
APN |
4 |
118,134,567 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Ptprf
|
APN |
4 |
118,070,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL03067:Ptprf
|
APN |
4 |
118,067,910 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
PIT4677001:Ptprf
|
UTSW |
4 |
118,070,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Ptprf
|
UTSW |
4 |
118,080,591 (GRCm39) |
splice site |
probably benign |
|
|
R0788:Ptprf
|
UTSW |
4 |
118,083,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1164:Ptprf
|
UTSW |
4 |
118,114,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Ptprf
|
UTSW |
4 |
118,069,302 (GRCm39) |
nonsense |
probably null |
|
|
R1483:Ptprf
|
UTSW |
4 |
118,093,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1611:Ptprf
|
UTSW |
4 |
118,093,430 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1721:Ptprf
|
UTSW |
4 |
118,082,096 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1817:Ptprf
|
UTSW |
4 |
118,080,462 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Ptprf
|
UTSW |
4 |
118,067,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Ptprf
|
UTSW |
4 |
118,081,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Ptprf
|
UTSW |
4 |
118,126,369 (GRCm39) |
splice site |
probably benign |
|
|
R2406:Ptprf
|
UTSW |
4 |
118,126,501 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2912:Ptprf
|
UTSW |
4 |
118,106,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3111:Ptprf
|
UTSW |
4 |
118,068,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3498:Ptprf
|
UTSW |
4 |
118,082,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3499:Ptprf
|
UTSW |
4 |
118,082,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3615:Ptprf
|
UTSW |
4 |
118,095,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3616:Ptprf
|
UTSW |
4 |
118,095,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4038:Ptprf
|
UTSW |
4 |
118,114,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Ptprf
|
UTSW |
4 |
118,083,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4260:Ptprf
|
UTSW |
4 |
118,083,280 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4693:Ptprf
|
UTSW |
4 |
118,068,219 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4726:Ptprf
|
UTSW |
4 |
118,069,414 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4746:Ptprf
|
UTSW |
4 |
118,082,236 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4802:Ptprf
|
UTSW |
4 |
118,067,526 (GRCm39) |
intron |
probably benign |
|
|
R4857:Ptprf
|
UTSW |
4 |
118,074,394 (GRCm39) |
splice site |
probably benign |
|
|
R5071:Ptprf
|
UTSW |
4 |
118,069,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Ptprf
|
UTSW |
4 |
118,082,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Ptprf
|
UTSW |
4 |
118,093,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Ptprf
|
UTSW |
4 |
118,092,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Ptprf
|
UTSW |
4 |
118,083,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5373:Ptprf
|
UTSW |
4 |
118,083,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5555:Ptprf
|
UTSW |
4 |
118,082,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Ptprf
|
UTSW |
4 |
118,093,374 (GRCm39) |
nonsense |
probably null |
|
|
R5860:Ptprf
|
UTSW |
4 |
118,068,486 (GRCm39) |
intron |
probably benign |
|
|
R5869:Ptprf
|
UTSW |
4 |
118,067,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Ptprf
|
UTSW |
4 |
118,081,932 (GRCm39) |
missense |
probably benign |
|
|
R5932:Ptprf
|
UTSW |
4 |
118,068,964 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6030:Ptprf
|
UTSW |
4 |
118,068,245 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6030:Ptprf
|
UTSW |
4 |
118,068,245 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6088:Ptprf
|
UTSW |
4 |
118,067,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6089:Ptprf
|
UTSW |
4 |
118,068,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6108:Ptprf
|
UTSW |
4 |
118,080,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6320:Ptprf
|
UTSW |
4 |
118,070,011 (GRCm39) |
missense |
probably benign |
|
|
R6741:Ptprf
|
UTSW |
4 |
118,080,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6744:Ptprf
|
UTSW |
4 |
118,093,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Ptprf
|
UTSW |
4 |
118,088,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6906:Ptprf
|
UTSW |
4 |
118,126,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7021:Ptprf
|
UTSW |
4 |
118,081,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7153:Ptprf
|
UTSW |
4 |
118,088,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Ptprf
|
UTSW |
4 |
118,088,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7337:Ptprf
|
UTSW |
4 |
118,068,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7374:Ptprf
|
UTSW |
4 |
118,114,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Ptprf
|
UTSW |
4 |
118,070,011 (GRCm39) |
missense |
probably benign |
|
|
R7399:Ptprf
|
UTSW |
4 |
118,083,720 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7417:Ptprf
|
UTSW |
4 |
118,069,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Ptprf
|
UTSW |
4 |
118,092,864 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7530:Ptprf
|
UTSW |
4 |
118,069,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Ptprf
|
UTSW |
4 |
118,069,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8172:Ptprf
|
UTSW |
4 |
118,068,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8239:Ptprf
|
UTSW |
4 |
118,069,309 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8257:Ptprf
|
UTSW |
4 |
118,083,476 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8331:Ptprf
|
UTSW |
4 |
118,083,263 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8441:Ptprf
|
UTSW |
4 |
118,075,255 (GRCm39) |
splice site |
probably benign |
|
|
R8681:Ptprf
|
UTSW |
4 |
118,088,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8771:Ptprf
|
UTSW |
4 |
118,068,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8815:Ptprf
|
UTSW |
4 |
118,095,125 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8998:Ptprf
|
UTSW |
4 |
118,083,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8999:Ptprf
|
UTSW |
4 |
118,083,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9389:Ptprf
|
UTSW |
4 |
118,093,236 (GRCm39) |
missense |
probably benign |
|
|
R9508:Ptprf
|
UTSW |
4 |
118,126,776 (GRCm39) |
nonsense |
probably null |
|
|
R9581:Ptprf
|
UTSW |
4 |
118,092,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Ptprf
|
UTSW |
4 |
118,093,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Ptprf
|
UTSW |
4 |
118,126,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGAAAACACTCACAGGAGG -3'
(R):5'- TCCAACTCGGAGGTGAACAAG -3'
Sequencing Primer
(F):5'- GTGGTACCCAGCATCACC -3'
(R):5'- GGTGAACAAGCCCAAGAACCG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation