Incidental Mutation 'R1470:Ptprq'
ID |
197984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprq
|
Ensembl Gene |
ENSMUSG00000035916 |
Gene Name |
protein tyrosine phosphatase receptor type Q |
Synonyms |
|
MMRRC Submission |
039523-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.236)
|
Stock # |
R1470 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
107352910-107555912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 107554435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 97
(V97M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050702]
|
AlphaFold |
P0C5E4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050702
AA Change: V97M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058572 Gene: ENSMUSG00000035916 AA Change: V97M
Domain | Start | End | E-Value | Type |
FN3
|
57 |
141 |
3.17e-13 |
SMART |
FN3
|
156 |
294 |
1.55e-7 |
SMART |
FN3
|
307 |
384 |
4.45e-8 |
SMART |
FN3
|
398 |
555 |
1.17e-7 |
SMART |
FN3
|
569 |
648 |
7.06e-11 |
SMART |
FN3
|
666 |
743 |
7.68e-12 |
SMART |
FN3
|
760 |
839 |
1.88e-6 |
SMART |
FN3
|
855 |
932 |
1.33e-6 |
SMART |
FN3
|
949 |
1037 |
2.31e-6 |
SMART |
FN3
|
1054 |
1135 |
1.24e-6 |
SMART |
FN3
|
1151 |
1229 |
2.39e-8 |
SMART |
FN3
|
1244 |
1325 |
6.29e-8 |
SMART |
FN3
|
1341 |
1416 |
2.87e-11 |
SMART |
FN3
|
1431 |
1524 |
2.82e-10 |
SMART |
FN3
|
1540 |
1622 |
6.35e-4 |
SMART |
FN3
|
1642 |
1732 |
7.93e-5 |
SMART |
transmembrane domain
|
1907 |
1929 |
N/A |
INTRINSIC |
PTPc
|
2003 |
2262 |
1.14e-130 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218399
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (125/129) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] PHENOTYPE: Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 142 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,944,337 (GRCm39) |
S749T |
unknown |
Het |
Abcb4 |
A |
T |
5: 8,990,968 (GRCm39) |
I843F |
probably damaging |
Het |
Abcb6 |
A |
T |
1: 75,149,323 (GRCm39) |
|
probably benign |
Het |
AC238840.1 |
A |
T |
7: 38,467,377 (GRCm39) |
|
noncoding transcript |
Het |
Actr8 |
T |
A |
14: 29,708,926 (GRCm39) |
H244Q |
possibly damaging |
Het |
Acyp2 |
A |
G |
11: 30,456,452 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,530,417 (GRCm39) |
Y5886H |
probably benign |
Het |
Afap1 |
C |
T |
5: 36,119,081 (GRCm39) |
|
probably benign |
Het |
Agk |
T |
A |
6: 40,363,751 (GRCm39) |
W244R |
probably damaging |
Het |
Akirin1 |
T |
A |
4: 123,631,883 (GRCm39) |
|
probably benign |
Het |
Ankrd11 |
C |
A |
8: 123,626,463 (GRCm39) |
V161L |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,122,249 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,785,968 (GRCm39) |
|
probably benign |
Het |
Armc3 |
A |
G |
2: 19,243,547 (GRCm39) |
M88V |
probably benign |
Het |
Atp13a5 |
G |
T |
16: 29,167,833 (GRCm39) |
P109T |
probably benign |
Het |
Avpr1b |
T |
A |
1: 131,528,323 (GRCm39) |
V282D |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,808,890 (GRCm39) |
K120E |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,052,480 (GRCm39) |
M3060T |
probably benign |
Het |
Cacna1a |
T |
A |
8: 85,241,579 (GRCm39) |
|
probably benign |
Het |
Cacng6 |
G |
A |
7: 3,473,404 (GRCm39) |
C76Y |
probably damaging |
Het |
Cactin |
G |
T |
10: 81,158,985 (GRCm39) |
E279* |
probably null |
Het |
Car9 |
A |
G |
4: 43,510,222 (GRCm39) |
Y268C |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,524,564 (GRCm39) |
I263F |
probably damaging |
Het |
Cdc16 |
A |
T |
8: 13,808,992 (GRCm39) |
|
probably benign |
Het |
Cdh16 |
T |
G |
8: 105,345,003 (GRCm39) |
S429R |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,995 (GRCm39) |
E1639G |
probably damaging |
Het |
Ces1d |
A |
T |
8: 93,921,649 (GRCm39) |
V38D |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,946,545 (GRCm39) |
Q97L |
possibly damaging |
Het |
Ciita |
G |
A |
16: 10,332,332 (GRCm39) |
D898N |
possibly damaging |
Het |
Clstn1 |
A |
G |
4: 149,719,179 (GRCm39) |
N336S |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,187,249 (GRCm39) |
D607G |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,636,753 (GRCm39) |
H245Y |
probably benign |
Het |
Coq8b |
A |
T |
7: 26,951,734 (GRCm39) |
T399S |
probably benign |
Het |
Cpn2 |
A |
G |
16: 30,079,003 (GRCm39) |
S233P |
probably benign |
Het |
Cryz |
G |
A |
3: 154,312,113 (GRCm39) |
G70D |
probably damaging |
Het |
Csmd1 |
G |
T |
8: 16,207,218 (GRCm39) |
|
probably benign |
Het |
Def6 |
T |
A |
17: 28,444,956 (GRCm39) |
D451E |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,966,251 (GRCm39) |
C2480* |
probably null |
Het |
Dnah9 |
T |
C |
11: 65,818,648 (GRCm39) |
N3230S |
probably benign |
Het |
Dyrk4 |
G |
T |
6: 126,893,337 (GRCm39) |
S15* |
probably null |
Het |
Erc1 |
T |
C |
6: 119,671,563 (GRCm39) |
R917G |
probably damaging |
Het |
Fgd2 |
T |
A |
17: 29,593,082 (GRCm39) |
|
probably benign |
Het |
Frem3 |
G |
T |
8: 81,337,820 (GRCm39) |
V38L |
probably benign |
Het |
Gas2l3 |
T |
C |
10: 89,249,796 (GRCm39) |
I441V |
probably benign |
Het |
Gm14393 |
T |
A |
2: 174,905,774 (GRCm39) |
Y6F |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,969,417 (GRCm39) |
K256E |
possibly damaging |
Het |
Gm21905 |
G |
T |
5: 68,103,740 (GRCm39) |
|
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,424,656 (GRCm39) |
|
probably null |
Het |
Hmces |
C |
A |
6: 87,913,121 (GRCm39) |
T292K |
probably benign |
Het |
Hpse2 |
G |
A |
19: 43,376,692 (GRCm39) |
S20L |
probably benign |
Het |
Ift70b |
G |
T |
2: 75,768,155 (GRCm39) |
S199R |
probably benign |
Het |
Ikbke |
A |
T |
1: 131,204,224 (GRCm39) |
V23E |
probably null |
Het |
Ino80 |
A |
T |
2: 119,210,130 (GRCm39) |
V1387E |
probably damaging |
Het |
Islr |
G |
T |
9: 58,064,589 (GRCm39) |
A306D |
probably damaging |
Het |
Jakmip1 |
G |
A |
5: 37,258,182 (GRCm39) |
G276D |
probably damaging |
Het |
Jchain |
A |
G |
5: 88,673,979 (GRCm39) |
V55A |
probably benign |
Het |
Kalrn |
T |
C |
16: 34,007,841 (GRCm39) |
K1350E |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,841,156 (GRCm39) |
Q48R |
possibly damaging |
Het |
Kmt5a |
T |
C |
5: 124,585,334 (GRCm39) |
L23P |
probably damaging |
Het |
Lrba |
C |
T |
3: 86,644,449 (GRCm39) |
H381Y |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,808,865 (GRCm39) |
|
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,148,564 (GRCm39) |
V448A |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,848,301 (GRCm39) |
M617T |
probably damaging |
Het |
Megf6 |
C |
T |
4: 154,336,876 (GRCm39) |
|
probably benign |
Het |
Mfap1a |
T |
C |
2: 121,333,282 (GRCm39) |
M50V |
probably benign |
Het |
Mgam |
G |
T |
6: 40,736,062 (GRCm39) |
A854S |
probably damaging |
Het |
Myh3 |
A |
C |
11: 66,988,885 (GRCm39) |
|
probably benign |
Het |
Myo18b |
C |
A |
5: 112,840,899 (GRCm39) |
R2298L |
probably damaging |
Het |
Myo1h |
T |
A |
5: 114,457,765 (GRCm39) |
M92K |
probably damaging |
Het |
Nfkbib |
T |
C |
7: 28,461,447 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
A |
7: 5,303,950 (GRCm39) |
T192S |
probably benign |
Het |
Nr2f1 |
A |
T |
13: 78,346,284 (GRCm39) |
Y137N |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,796,513 (GRCm39) |
D841V |
probably damaging |
Het |
Nvl |
A |
G |
1: 180,966,827 (GRCm39) |
V59A |
probably damaging |
Het |
Ogdhl |
C |
A |
14: 32,068,745 (GRCm39) |
N948K |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or12j3 |
A |
G |
7: 139,953,026 (GRCm39) |
S166P |
probably benign |
Het |
Or13a24 |
A |
G |
7: 140,154,662 (GRCm39) |
T199A |
probably benign |
Het |
Or51g1 |
A |
C |
7: 102,633,530 (GRCm39) |
Y280* |
probably null |
Het |
Orc2 |
A |
C |
1: 58,520,317 (GRCm39) |
|
probably benign |
Het |
Osgin1 |
G |
A |
8: 120,171,704 (GRCm39) |
R166H |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,706,746 (GRCm39) |
F741I |
probably benign |
Het |
Palb2 |
G |
T |
7: 121,706,747 (GRCm39) |
Y740* |
probably null |
Het |
Parvb |
G |
A |
15: 84,155,453 (GRCm39) |
G46D |
probably damaging |
Het |
Parvb |
G |
A |
15: 84,155,509 (GRCm39) |
D65N |
probably benign |
Het |
Pcsk2 |
A |
T |
2: 143,388,438 (GRCm39) |
K10* |
probably null |
Het |
Pde3a |
C |
T |
6: 141,411,932 (GRCm39) |
A502V |
probably benign |
Het |
Pfas |
T |
C |
11: 68,882,185 (GRCm39) |
I893V |
probably benign |
Het |
Pla2g4a |
A |
T |
1: 149,716,471 (GRCm39) |
D663E |
probably damaging |
Het |
Prickle2 |
G |
A |
6: 92,435,583 (GRCm39) |
P6L |
probably damaging |
Het |
Prx |
T |
A |
7: 27,217,026 (GRCm39) |
M648K |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,654,735 (GRCm39) |
N744S |
probably benign |
Het |
Pvr |
T |
C |
7: 19,652,549 (GRCm39) |
E122G |
possibly damaging |
Het |
Racgap1 |
T |
C |
15: 99,537,656 (GRCm39) |
K15E |
probably damaging |
Het |
Rock1 |
C |
T |
18: 10,136,091 (GRCm39) |
|
probably null |
Het |
Rorc |
T |
A |
3: 94,304,609 (GRCm39) |
Y331* |
probably null |
Het |
Rpl37 |
T |
C |
15: 5,148,096 (GRCm39) |
V91A |
probably benign |
Het |
Rrp36 |
T |
A |
17: 46,983,306 (GRCm39) |
K103* |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,483,352 (GRCm39) |
M4142L |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,665,357 (GRCm39) |
L125H |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,365,541 (GRCm39) |
M369V |
possibly damaging |
Het |
Siglec1 |
A |
T |
2: 130,912,307 (GRCm39) |
N1678K |
probably benign |
Het |
Slc15a5 |
A |
T |
6: 138,049,992 (GRCm39) |
V141E |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,690,020 (GRCm39) |
|
probably benign |
Het |
Slc8a3 |
A |
T |
12: 81,246,484 (GRCm39) |
H856Q |
probably benign |
Het |
Spmip11 |
T |
C |
15: 98,483,142 (GRCm39) |
|
probably benign |
Het |
Sptlc2 |
T |
A |
12: 87,402,414 (GRCm39) |
M171L |
probably benign |
Het |
Srcap |
T |
A |
7: 127,158,899 (GRCm39) |
|
probably benign |
Het |
St6gal2 |
A |
G |
17: 55,797,944 (GRCm39) |
D310G |
probably damaging |
Het |
Susd2 |
T |
A |
10: 75,473,888 (GRCm39) |
D689V |
probably damaging |
Het |
Suz12 |
A |
T |
11: 79,910,558 (GRCm39) |
E303V |
possibly damaging |
Het |
Taldo1 |
C |
A |
7: 140,978,500 (GRCm39) |
T150K |
probably damaging |
Het |
Tex14 |
T |
C |
11: 87,440,355 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
A |
15: 66,721,312 (GRCm39) |
F274I |
possibly damaging |
Het |
Tmem151b |
T |
C |
17: 45,856,663 (GRCm39) |
D259G |
probably damaging |
Het |
Tmem179 |
G |
T |
12: 112,468,288 (GRCm39) |
H64Q |
probably benign |
Het |
Tmem236 |
A |
G |
2: 14,223,732 (GRCm39) |
T174A |
probably benign |
Het |
Tmtc1 |
T |
A |
6: 148,207,483 (GRCm39) |
|
probably benign |
Het |
Tnc |
A |
T |
4: 63,884,811 (GRCm39) |
N1821K |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,752,773 (GRCm39) |
N261S |
probably damaging |
Het |
Traf6 |
G |
T |
2: 101,526,994 (GRCm39) |
|
probably benign |
Het |
Trank1 |
C |
A |
9: 111,172,300 (GRCm39) |
F96L |
possibly damaging |
Het |
Trim56 |
T |
A |
5: 137,142,017 (GRCm39) |
I500F |
probably damaging |
Het |
Ttll5 |
A |
G |
12: 85,926,168 (GRCm39) |
I321V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,608,367 (GRCm39) |
W17852L |
probably damaging |
Het |
Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
Uba52 |
A |
G |
8: 70,962,206 (GRCm39) |
I127T |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,148,537 (GRCm39) |
|
probably null |
Het |
Uggt1 |
A |
T |
1: 36,215,877 (GRCm39) |
M130K |
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,910,722 (GRCm39) |
T1101S |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,548,902 (GRCm39) |
S2269P |
probably benign |
Het |
Ush2a |
G |
T |
1: 188,132,403 (GRCm39) |
R875L |
probably benign |
Het |
Usp9y |
T |
A |
Y: 1,332,471 (GRCm39) |
H1624L |
probably benign |
Homo |
Vipr1 |
T |
C |
9: 121,494,586 (GRCm39) |
L308S |
possibly damaging |
Het |
Vps50 |
G |
A |
6: 3,517,777 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
G |
17: 74,198,107 (GRCm39) |
K1260T |
probably damaging |
Het |
Yipf4 |
A |
G |
17: 74,800,963 (GRCm39) |
I94V |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,478,206 (GRCm39) |
*3582W |
probably null |
Het |
Zfp58 |
T |
C |
13: 67,640,144 (GRCm39) |
N116D |
possibly damaging |
Het |
Zfp750 |
C |
A |
11: 121,402,819 (GRCm39) |
R643L |
probably benign |
Het |
Znfx1 |
A |
G |
2: 166,884,507 (GRCm39) |
V51A |
possibly damaging |
Het |
|
Other mutations in Ptprq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Ptprq
|
APN |
10 |
107,412,790 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00537:Ptprq
|
APN |
10 |
107,546,383 (GRCm39) |
missense |
probably benign |
0.07 |
IGL00547:Ptprq
|
APN |
10 |
107,554,402 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00586:Ptprq
|
APN |
10 |
107,443,983 (GRCm39) |
splice site |
probably benign |
|
IGL00648:Ptprq
|
APN |
10 |
107,482,577 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01123:Ptprq
|
APN |
10 |
107,522,079 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01343:Ptprq
|
APN |
10 |
107,474,700 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01348:Ptprq
|
APN |
10 |
107,547,765 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01433:Ptprq
|
APN |
10 |
107,412,741 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01510:Ptprq
|
APN |
10 |
107,547,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01535:Ptprq
|
APN |
10 |
107,535,457 (GRCm39) |
missense |
probably benign |
|
IGL01631:Ptprq
|
APN |
10 |
107,479,399 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01633:Ptprq
|
APN |
10 |
107,535,584 (GRCm39) |
splice site |
probably benign |
|
IGL01702:Ptprq
|
APN |
10 |
107,353,727 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01733:Ptprq
|
APN |
10 |
107,498,460 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01806:Ptprq
|
APN |
10 |
107,535,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01832:Ptprq
|
APN |
10 |
107,401,700 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01961:Ptprq
|
APN |
10 |
107,479,515 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Ptprq
|
APN |
10 |
107,482,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02120:Ptprq
|
APN |
10 |
107,503,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02160:Ptprq
|
APN |
10 |
107,489,426 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02178:Ptprq
|
APN |
10 |
107,522,180 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02249:Ptprq
|
APN |
10 |
107,418,220 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02267:Ptprq
|
APN |
10 |
107,482,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02527:Ptprq
|
APN |
10 |
107,522,424 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02529:Ptprq
|
APN |
10 |
107,471,226 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02542:Ptprq
|
APN |
10 |
107,498,416 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02582:Ptprq
|
APN |
10 |
107,479,860 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02708:Ptprq
|
APN |
10 |
107,488,561 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02894:Ptprq
|
APN |
10 |
107,503,285 (GRCm39) |
missense |
probably benign |
|
IGL02903:Ptprq
|
APN |
10 |
107,502,447 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02951:Ptprq
|
APN |
10 |
107,503,321 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02982:Ptprq
|
APN |
10 |
107,422,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Ptprq
|
APN |
10 |
107,378,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03024:Ptprq
|
APN |
10 |
107,521,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03240:Ptprq
|
APN |
10 |
107,524,368 (GRCm39) |
missense |
probably benign |
|
P0043:Ptprq
|
UTSW |
10 |
107,416,086 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4812001:Ptprq
|
UTSW |
10 |
107,502,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Ptprq
|
UTSW |
10 |
107,521,018 (GRCm39) |
missense |
probably benign |
|
R0268:Ptprq
|
UTSW |
10 |
107,541,409 (GRCm39) |
missense |
probably benign |
|
R0276:Ptprq
|
UTSW |
10 |
107,378,596 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0279:Ptprq
|
UTSW |
10 |
107,444,278 (GRCm39) |
missense |
probably damaging |
0.96 |
R0335:Ptprq
|
UTSW |
10 |
107,544,589 (GRCm39) |
missense |
probably benign |
|
R0344:Ptprq
|
UTSW |
10 |
107,541,443 (GRCm39) |
missense |
probably benign |
|
R0357:Ptprq
|
UTSW |
10 |
107,522,060 (GRCm39) |
splice site |
probably benign |
|
R0454:Ptprq
|
UTSW |
10 |
107,418,391 (GRCm39) |
nonsense |
probably null |
|
R0479:Ptprq
|
UTSW |
10 |
107,479,855 (GRCm39) |
nonsense |
probably null |
|
R0491:Ptprq
|
UTSW |
10 |
107,444,036 (GRCm39) |
missense |
probably damaging |
0.98 |
R0519:Ptprq
|
UTSW |
10 |
107,374,781 (GRCm39) |
splice site |
probably benign |
|
R0523:Ptprq
|
UTSW |
10 |
107,416,081 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0553:Ptprq
|
UTSW |
10 |
107,546,488 (GRCm39) |
missense |
probably benign |
0.33 |
R0746:Ptprq
|
UTSW |
10 |
107,353,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R0755:Ptprq
|
UTSW |
10 |
107,418,400 (GRCm39) |
missense |
probably benign |
0.09 |
R1434:Ptprq
|
UTSW |
10 |
107,422,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Ptprq
|
UTSW |
10 |
107,498,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Ptprq
|
UTSW |
10 |
107,554,435 (GRCm39) |
missense |
probably damaging |
0.97 |
R1558:Ptprq
|
UTSW |
10 |
107,479,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R1567:Ptprq
|
UTSW |
10 |
107,401,748 (GRCm39) |
missense |
probably benign |
0.13 |
R1711:Ptprq
|
UTSW |
10 |
107,370,560 (GRCm39) |
nonsense |
probably null |
|
R1720:Ptprq
|
UTSW |
10 |
107,522,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R1746:Ptprq
|
UTSW |
10 |
107,474,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ptprq
|
UTSW |
10 |
107,520,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Ptprq
|
UTSW |
10 |
107,554,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Ptprq
|
UTSW |
10 |
107,479,860 (GRCm39) |
missense |
probably benign |
0.19 |
R1944:Ptprq
|
UTSW |
10 |
107,418,249 (GRCm39) |
missense |
probably benign |
0.23 |
R1945:Ptprq
|
UTSW |
10 |
107,418,249 (GRCm39) |
missense |
probably benign |
0.23 |
R2006:Ptprq
|
UTSW |
10 |
107,502,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Ptprq
|
UTSW |
10 |
107,503,283 (GRCm39) |
missense |
probably damaging |
0.96 |
R2015:Ptprq
|
UTSW |
10 |
107,503,283 (GRCm39) |
missense |
probably damaging |
0.96 |
R2097:Ptprq
|
UTSW |
10 |
107,489,354 (GRCm39) |
missense |
probably benign |
0.05 |
R2172:Ptprq
|
UTSW |
10 |
107,426,855 (GRCm39) |
nonsense |
probably null |
|
R2174:Ptprq
|
UTSW |
10 |
107,541,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R2248:Ptprq
|
UTSW |
10 |
107,478,931 (GRCm39) |
splice site |
probably null |
|
R2404:Ptprq
|
UTSW |
10 |
107,522,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R3423:Ptprq
|
UTSW |
10 |
107,418,337 (GRCm39) |
missense |
probably damaging |
0.99 |
R3683:Ptprq
|
UTSW |
10 |
107,544,489 (GRCm39) |
missense |
probably benign |
0.01 |
R3875:Ptprq
|
UTSW |
10 |
107,520,965 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3945:Ptprq
|
UTSW |
10 |
107,522,253 (GRCm39) |
splice site |
probably benign |
|
R3946:Ptprq
|
UTSW |
10 |
107,522,253 (GRCm39) |
splice site |
probably benign |
|
R3974:Ptprq
|
UTSW |
10 |
107,547,923 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3982:Ptprq
|
UTSW |
10 |
107,379,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R4105:Ptprq
|
UTSW |
10 |
107,408,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Ptprq
|
UTSW |
10 |
107,547,781 (GRCm39) |
missense |
probably benign |
0.37 |
R4175:Ptprq
|
UTSW |
10 |
107,547,778 (GRCm39) |
missense |
probably benign |
|
R4231:Ptprq
|
UTSW |
10 |
107,522,144 (GRCm39) |
nonsense |
probably null |
|
R4356:Ptprq
|
UTSW |
10 |
107,444,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R4435:Ptprq
|
UTSW |
10 |
107,520,916 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4678:Ptprq
|
UTSW |
10 |
107,521,043 (GRCm39) |
missense |
probably benign |
0.19 |
R4679:Ptprq
|
UTSW |
10 |
107,521,043 (GRCm39) |
missense |
probably benign |
0.19 |
R4745:Ptprq
|
UTSW |
10 |
107,360,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Ptprq
|
UTSW |
10 |
107,524,288 (GRCm39) |
missense |
probably benign |
|
R4778:Ptprq
|
UTSW |
10 |
107,426,883 (GRCm39) |
missense |
probably benign |
0.15 |
R4808:Ptprq
|
UTSW |
10 |
107,554,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Ptprq
|
UTSW |
10 |
107,399,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Ptprq
|
UTSW |
10 |
107,546,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4845:Ptprq
|
UTSW |
10 |
107,489,393 (GRCm39) |
missense |
probably benign |
0.00 |
R4901:Ptprq
|
UTSW |
10 |
107,524,275 (GRCm39) |
missense |
probably benign |
0.01 |
R4942:Ptprq
|
UTSW |
10 |
107,524,290 (GRCm39) |
missense |
probably benign |
0.01 |
R4946:Ptprq
|
UTSW |
10 |
107,361,595 (GRCm39) |
missense |
probably benign |
|
R4959:Ptprq
|
UTSW |
10 |
107,522,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Ptprq
|
UTSW |
10 |
107,522,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Ptprq
|
UTSW |
10 |
107,444,137 (GRCm39) |
missense |
probably benign |
0.00 |
R5053:Ptprq
|
UTSW |
10 |
107,399,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5055:Ptprq
|
UTSW |
10 |
107,370,540 (GRCm39) |
missense |
probably benign |
0.37 |
R5090:Ptprq
|
UTSW |
10 |
107,361,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5158:Ptprq
|
UTSW |
10 |
107,370,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5163:Ptprq
|
UTSW |
10 |
107,360,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5222:Ptprq
|
UTSW |
10 |
107,498,425 (GRCm39) |
missense |
probably damaging |
0.96 |
R5244:Ptprq
|
UTSW |
10 |
107,422,556 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5249:Ptprq
|
UTSW |
10 |
107,535,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R5503:Ptprq
|
UTSW |
10 |
107,524,189 (GRCm39) |
splice site |
probably null |
|
R5508:Ptprq
|
UTSW |
10 |
107,522,092 (GRCm39) |
missense |
probably benign |
0.00 |
R5601:Ptprq
|
UTSW |
10 |
107,444,291 (GRCm39) |
missense |
probably benign |
|
R5722:Ptprq
|
UTSW |
10 |
107,522,226 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5819:Ptprq
|
UTSW |
10 |
107,555,744 (GRCm39) |
start gained |
probably benign |
|
R5862:Ptprq
|
UTSW |
10 |
107,401,739 (GRCm39) |
missense |
probably benign |
0.02 |
R5891:Ptprq
|
UTSW |
10 |
107,412,756 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5916:Ptprq
|
UTSW |
10 |
107,359,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R6054:Ptprq
|
UTSW |
10 |
107,418,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Ptprq
|
UTSW |
10 |
107,471,135 (GRCm39) |
missense |
probably benign |
0.00 |
R6075:Ptprq
|
UTSW |
10 |
107,361,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Ptprq
|
UTSW |
10 |
107,416,127 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6189:Ptprq
|
UTSW |
10 |
107,353,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Ptprq
|
UTSW |
10 |
107,471,199 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6351:Ptprq
|
UTSW |
10 |
107,544,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R6394:Ptprq
|
UTSW |
10 |
107,478,804 (GRCm39) |
nonsense |
probably null |
|
R6449:Ptprq
|
UTSW |
10 |
107,541,444 (GRCm39) |
missense |
probably benign |
0.00 |
R6526:Ptprq
|
UTSW |
10 |
107,378,514 (GRCm39) |
nonsense |
probably null |
|
R6544:Ptprq
|
UTSW |
10 |
107,444,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R6609:Ptprq
|
UTSW |
10 |
107,408,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R6862:Ptprq
|
UTSW |
10 |
107,522,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R6874:Ptprq
|
UTSW |
10 |
107,554,460 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6892:Ptprq
|
UTSW |
10 |
107,411,865 (GRCm39) |
missense |
probably benign |
0.00 |
R7082:Ptprq
|
UTSW |
10 |
107,544,591 (GRCm39) |
missense |
probably benign |
0.10 |
R7210:Ptprq
|
UTSW |
10 |
107,521,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R7253:Ptprq
|
UTSW |
10 |
107,444,134 (GRCm39) |
missense |
probably benign |
0.30 |
R7293:Ptprq
|
UTSW |
10 |
107,471,367 (GRCm39) |
nonsense |
probably null |
|
R7445:Ptprq
|
UTSW |
10 |
107,426,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R7632:Ptprq
|
UTSW |
10 |
107,547,783 (GRCm39) |
missense |
probably benign |
0.32 |
R7685:Ptprq
|
UTSW |
10 |
107,479,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Ptprq
|
UTSW |
10 |
107,480,007 (GRCm39) |
missense |
probably benign |
0.01 |
R7774:Ptprq
|
UTSW |
10 |
107,479,530 (GRCm39) |
missense |
probably damaging |
0.96 |
R7897:Ptprq
|
UTSW |
10 |
107,546,484 (GRCm39) |
missense |
probably benign |
0.21 |
R7936:Ptprq
|
UTSW |
10 |
107,488,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7983:Ptprq
|
UTSW |
10 |
107,444,272 (GRCm39) |
nonsense |
probably null |
|
R8023:Ptprq
|
UTSW |
10 |
107,488,477 (GRCm39) |
nonsense |
probably null |
|
R8071:Ptprq
|
UTSW |
10 |
107,479,896 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8084:Ptprq
|
UTSW |
10 |
107,444,294 (GRCm39) |
missense |
probably benign |
|
R8086:Ptprq
|
UTSW |
10 |
107,482,500 (GRCm39) |
nonsense |
probably null |
|
R8169:Ptprq
|
UTSW |
10 |
107,418,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R8223:Ptprq
|
UTSW |
10 |
107,535,499 (GRCm39) |
missense |
probably benign |
0.00 |
R8235:Ptprq
|
UTSW |
10 |
107,541,351 (GRCm39) |
missense |
probably benign |
0.32 |
R8235:Ptprq
|
UTSW |
10 |
107,418,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Ptprq
|
UTSW |
10 |
107,522,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8710:Ptprq
|
UTSW |
10 |
107,411,919 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8828:Ptprq
|
UTSW |
10 |
107,482,513 (GRCm39) |
missense |
probably benign |
|
R8830:Ptprq
|
UTSW |
10 |
107,422,556 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8869:Ptprq
|
UTSW |
10 |
107,535,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R9012:Ptprq
|
UTSW |
10 |
107,489,411 (GRCm39) |
missense |
probably benign |
0.09 |
R9072:Ptprq
|
UTSW |
10 |
107,401,736 (GRCm39) |
missense |
|
|
R9153:Ptprq
|
UTSW |
10 |
107,416,126 (GRCm39) |
missense |
probably damaging |
0.98 |
R9202:Ptprq
|
UTSW |
10 |
107,522,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R9252:Ptprq
|
UTSW |
10 |
107,522,247 (GRCm39) |
missense |
probably benign |
0.12 |
R9306:Ptprq
|
UTSW |
10 |
107,422,599 (GRCm39) |
missense |
probably benign |
0.00 |
R9492:Ptprq
|
UTSW |
10 |
107,478,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R9519:Ptprq
|
UTSW |
10 |
107,520,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R9581:Ptprq
|
UTSW |
10 |
107,547,771 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9593:Ptprq
|
UTSW |
10 |
107,524,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9621:Ptprq
|
UTSW |
10 |
107,378,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Ptprq
|
UTSW |
10 |
107,412,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9743:Ptprq
|
UTSW |
10 |
107,520,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9771:Ptprq
|
UTSW |
10 |
107,521,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R9788:Ptprq
|
UTSW |
10 |
107,401,751 (GRCm39) |
missense |
probably benign |
0.24 |
Z1088:Ptprq
|
UTSW |
10 |
107,535,533 (GRCm39) |
missense |
possibly damaging |
0.56 |
Z1176:Ptprq
|
UTSW |
10 |
107,361,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGACTTACAAGGTGGGTGAAAC -3'
(R):5'- AGGTAAGCCCTGCATTAAGAAAGCC -3'
Sequencing Primer
(F):5'- TGGGTGAAACTCCCACTGTC -3'
(R):5'- GAAAAGAATGTTTGTGCTGTTCC -3'
|
Posted On |
2014-05-23 |