Incidental Mutation 'R1957:Pkd1l2'
ID |
217924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkd1l2
|
Ensembl Gene |
ENSMUSG00000034416 |
Gene Name |
polycystic kidney disease 1 like 2 |
Synonyms |
1700126L06Rik |
MMRRC Submission |
039971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1957 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
117722418-117809188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 117757421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1539
(V1539D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098375]
[ENSMUST00000109093]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098375
AA Change: V1538D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095977 Gene: ENSMUSG00000034416 AA Change: V1538D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
CLECT
|
26 |
152 |
1.56e-21 |
SMART |
Pfam:Gal_Lectin
|
168 |
250 |
1.8e-18 |
PFAM |
PKD
|
260 |
341 |
3.84e-1 |
SMART |
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
Pfam:REJ
|
510 |
886 |
1.8e-13 |
PFAM |
low complexity region
|
1050 |
1060 |
N/A |
INTRINSIC |
GPS
|
1278 |
1327 |
1.61e-11 |
SMART |
transmembrane domain
|
1346 |
1365 |
N/A |
INTRINSIC |
LH2
|
1390 |
1509 |
6.05e-13 |
SMART |
transmembrane domain
|
1552 |
1574 |
N/A |
INTRINSIC |
transmembrane domain
|
1589 |
1611 |
N/A |
INTRINSIC |
transmembrane domain
|
1815 |
1837 |
N/A |
INTRINSIC |
transmembrane domain
|
1852 |
1874 |
N/A |
INTRINSIC |
transmembrane domain
|
1940 |
1962 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
1980 |
2403 |
6.4e-107 |
PFAM |
Pfam:Ion_trans
|
2187 |
2396 |
2.5e-12 |
PFAM |
low complexity region
|
2441 |
2458 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109093
AA Change: V1539D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104721 Gene: ENSMUSG00000034416 AA Change: V1539D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
CLECT
|
26 |
152 |
1.56e-21 |
SMART |
Pfam:Gal_Lectin
|
168 |
250 |
6.9e-19 |
PFAM |
PKD
|
260 |
341 |
3.84e-1 |
SMART |
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
Pfam:REJ
|
519 |
883 |
7e-11 |
PFAM |
low complexity region
|
1051 |
1061 |
N/A |
INTRINSIC |
GPS
|
1279 |
1328 |
1.61e-11 |
SMART |
transmembrane domain
|
1347 |
1366 |
N/A |
INTRINSIC |
LH2
|
1391 |
1510 |
6.05e-13 |
SMART |
transmembrane domain
|
1553 |
1575 |
N/A |
INTRINSIC |
transmembrane domain
|
1590 |
1612 |
N/A |
INTRINSIC |
transmembrane domain
|
1816 |
1838 |
N/A |
INTRINSIC |
transmembrane domain
|
1853 |
1875 |
N/A |
INTRINSIC |
transmembrane domain
|
1941 |
1963 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
1981 |
2403 |
5.9e-106 |
PFAM |
Pfam:Ion_trans
|
2138 |
2409 |
3.4e-12 |
PFAM |
low complexity region
|
2442 |
2459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160449
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
97% (117/121) |
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 polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 114 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
C |
T |
15: 102,247,068 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm5 |
G |
A |
4: 144,504,389 (GRCm39) |
T254I |
possibly damaging |
Het |
Abce1 |
A |
G |
8: 80,412,578 (GRCm39) |
I583T |
probably benign |
Het |
Abtb3 |
T |
C |
10: 85,469,563 (GRCm39) |
L828P |
probably damaging |
Het |
Adcy1 |
A |
T |
11: 7,111,945 (GRCm39) |
T937S |
probably benign |
Het |
Adgra2 |
A |
G |
8: 27,601,196 (GRCm39) |
I279V |
possibly damaging |
Het |
Adgrl4 |
A |
T |
3: 151,216,416 (GRCm39) |
N533I |
possibly damaging |
Het |
Adipor1 |
T |
C |
1: 134,350,771 (GRCm39) |
S7P |
probably benign |
Het |
Amelx |
A |
T |
X: 167,965,153 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
T |
10: 89,885,792 (GRCm39) |
T163S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,450,388 (GRCm39) |
E2394G |
probably damaging |
Het |
Arhgef39 |
C |
T |
4: 43,499,309 (GRCm39) |
G56E |
probably damaging |
Het |
Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,232,670 (GRCm39) |
N472S |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,635,677 (GRCm39) |
Y197C |
probably damaging |
Het |
B3gat1 |
A |
T |
9: 26,667,248 (GRCm39) |
D160V |
possibly damaging |
Het |
Bmp7 |
T |
C |
2: 172,781,714 (GRCm39) |
E50G |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,369,939 (GRCm39) |
E869G |
probably damaging |
Het |
Brd4 |
G |
A |
17: 32,440,340 (GRCm39) |
P332L |
possibly damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,615,095 (GRCm39) |
T32A |
probably benign |
Het |
C1rl |
A |
T |
6: 124,486,021 (GRCm39) |
Y464F |
probably damaging |
Het |
Ccdc150 |
T |
A |
1: 54,303,068 (GRCm39) |
M193K |
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,616 (GRCm39) |
S338P |
probably damaging |
Het |
Cenpu |
T |
C |
8: 47,025,872 (GRCm39) |
|
probably benign |
Het |
Cep170 |
A |
C |
1: 176,597,013 (GRCm39) |
V448G |
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,196,031 (GRCm39) |
A879S |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,276,383 (GRCm39) |
S515N |
possibly damaging |
Het |
Cstad |
G |
A |
2: 30,498,293 (GRCm39) |
V43M |
unknown |
Het |
Daam1 |
T |
C |
12: 72,029,529 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,655,162 (GRCm39) |
N153S |
probably damaging |
Het |
Dzip3 |
C |
A |
16: 48,747,956 (GRCm39) |
L1151F |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,826,220 (GRCm39) |
H644Q |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,297,027 (GRCm39) |
L52P |
probably damaging |
Het |
Eno1 |
T |
A |
4: 150,331,232 (GRCm39) |
|
probably null |
Het |
Epha3 |
T |
A |
16: 63,593,315 (GRCm39) |
T258S |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,317,723 (GRCm39) |
T134A |
probably damaging |
Het |
Fam151b |
G |
T |
13: 92,614,410 (GRCm39) |
T26K |
probably damaging |
Het |
Fam151b |
T |
A |
13: 92,614,411 (GRCm39) |
T26S |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,209,574 (GRCm39) |
N930S |
possibly damaging |
Het |
Fgr |
A |
G |
4: 132,725,673 (GRCm39) |
M361V |
probably benign |
Het |
Fmo4 |
G |
A |
1: 162,631,259 (GRCm39) |
T236I |
probably benign |
Het |
Fndc7 |
G |
A |
3: 108,790,825 (GRCm39) |
T67I |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,766 (GRCm39) |
T216A |
probably benign |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm42669 |
A |
T |
5: 107,656,738 (GRCm39) |
E355D |
possibly damaging |
Het |
Gm5174 |
A |
T |
10: 86,492,617 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
T |
11: 48,779,224 (GRCm39) |
L844* |
probably null |
Het |
Gm6489 |
T |
C |
1: 31,326,452 (GRCm39) |
|
noncoding transcript |
Het |
Gna11 |
A |
G |
10: 81,366,678 (GRCm39) |
V344A |
probably damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,943,099 (GRCm39) |
E170G |
probably damaging |
Het |
H2az1 |
A |
C |
3: 137,571,275 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
A |
G |
13: 12,411,419 (GRCm39) |
N87D |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,027,868 (GRCm39) |
K687E |
possibly damaging |
Het |
Ica1 |
T |
C |
6: 8,749,736 (GRCm39) |
D71G |
possibly damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,413,881 (GRCm39) |
L10P |
probably damaging |
Het |
Il1r1 |
T |
A |
1: 40,352,300 (GRCm39) |
L490* |
probably null |
Het |
Ip6k3 |
A |
T |
17: 27,370,142 (GRCm39) |
L92Q |
probably benign |
Het |
Itgbl1 |
T |
A |
14: 124,204,090 (GRCm39) |
F394I |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,678,947 (GRCm39) |
Y437H |
probably damaging |
Het |
Kcnh5 |
G |
C |
12: 74,944,358 (GRCm39) |
Q964E |
probably benign |
Het |
Krt27 |
A |
T |
11: 99,237,309 (GRCm39) |
|
probably null |
Het |
Mki67 |
A |
T |
7: 135,300,128 (GRCm39) |
D1635E |
probably benign |
Het |
Mmp23 |
G |
T |
4: 155,736,509 (GRCm39) |
H177Q |
possibly damaging |
Het |
Myef2l |
G |
T |
3: 10,154,346 (GRCm39) |
V372F |
probably benign |
Het |
Mylk2 |
C |
A |
2: 152,759,527 (GRCm39) |
Q406K |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,462,159 (GRCm39) |
|
probably null |
Het |
Myrf |
T |
C |
19: 10,197,160 (GRCm39) |
T261A |
probably benign |
Het |
Nmt2 |
C |
T |
2: 3,326,419 (GRCm39) |
P486L |
possibly damaging |
Het |
Oard1 |
T |
A |
17: 48,722,304 (GRCm39) |
L100* |
probably null |
Het |
Oca2 |
T |
C |
7: 55,971,246 (GRCm39) |
I391T |
possibly damaging |
Het |
Or51v14 |
T |
A |
7: 103,260,618 (GRCm39) |
*314L |
probably null |
Het |
Or5k17 |
T |
A |
16: 58,746,530 (GRCm39) |
M135L |
probably benign |
Het |
Or5p64 |
A |
C |
7: 107,854,403 (GRCm39) |
L314* |
probably null |
Het |
Or6c68 |
A |
T |
10: 129,157,740 (GRCm39) |
I83F |
possibly damaging |
Het |
Or8b39 |
T |
A |
9: 37,996,419 (GRCm39) |
C96S |
probably damaging |
Het |
Or9k2b |
C |
A |
10: 130,015,847 (GRCm39) |
A301S |
possibly damaging |
Het |
Pabpc4 |
T |
A |
4: 123,180,658 (GRCm39) |
S127T |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,398,760 (GRCm39) |
D237G |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,537,090 (GRCm39) |
Y29C |
probably damaging |
Het |
Phf3 |
C |
A |
1: 30,870,601 (GRCm39) |
R95L |
probably damaging |
Het |
Plxna1 |
A |
T |
6: 89,308,273 (GRCm39) |
D1271E |
probably damaging |
Het |
Ppp3r2 |
A |
G |
4: 49,681,726 (GRCm39) |
F75L |
probably damaging |
Het |
Pth2r |
C |
A |
1: 65,411,514 (GRCm39) |
D350E |
probably damaging |
Het |
Rabgap1 |
T |
C |
2: 37,373,774 (GRCm39) |
F262S |
possibly damaging |
Het |
Rbbp6 |
T |
C |
7: 122,589,511 (GRCm39) |
S438P |
probably benign |
Het |
Rexo1 |
G |
A |
10: 80,379,200 (GRCm39) |
R1038C |
probably damaging |
Het |
Rnf10 |
A |
G |
5: 115,398,381 (GRCm39) |
|
probably benign |
Het |
Scyl1 |
C |
A |
19: 5,810,132 (GRCm39) |
A565S |
probably benign |
Het |
Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
Sh3yl1 |
A |
G |
12: 30,992,787 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
G |
T |
4: 107,825,782 (GRCm39) |
D14Y |
probably benign |
Het |
Slc32a1 |
T |
C |
2: 158,455,963 (GRCm39) |
V206A |
probably damaging |
Het |
Smyd5 |
G |
A |
6: 85,415,121 (GRCm39) |
R43Q |
probably benign |
Het |
Snrnp200 |
G |
A |
2: 127,058,095 (GRCm39) |
A286T |
possibly damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,079,155 (GRCm39) |
H794Q |
probably benign |
Het |
Ssbp2 |
T |
C |
13: 91,812,303 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,455,207 (GRCm39) |
G3023D |
probably damaging |
Het |
St6galnac5 |
T |
A |
3: 152,552,120 (GRCm39) |
Q149L |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,697,334 (GRCm39) |
Y1985H |
probably benign |
Het |
Suz12 |
A |
G |
11: 79,889,926 (GRCm39) |
M146V |
probably benign |
Het |
Tac2 |
A |
G |
10: 127,564,349 (GRCm39) |
|
probably null |
Het |
Thbd |
T |
C |
2: 148,248,899 (GRCm39) |
E323G |
probably damaging |
Het |
Tnfrsf26 |
T |
A |
7: 143,171,660 (GRCm39) |
T98S |
probably damaging |
Het |
Trim15 |
T |
C |
17: 37,173,215 (GRCm39) |
|
probably benign |
Het |
Trpt1 |
T |
C |
19: 6,975,561 (GRCm39) |
V105A |
possibly damaging |
Het |
Vcam1 |
T |
C |
3: 115,919,606 (GRCm39) |
Y226C |
probably damaging |
Het |
Vmn1r175 |
A |
G |
7: 23,507,808 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,784,969 (GRCm39) |
V17A |
probably benign |
Het |
Vmn2r84 |
G |
A |
10: 130,226,677 (GRCm39) |
A387V |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,693,641 (GRCm39) |
L2728Q |
probably damaging |
Het |
Zfp934 |
T |
A |
13: 62,666,108 (GRCm39) |
T178S |
possibly damaging |
Het |
|
Other mutations in Pkd1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01338:Pkd1l2
|
APN |
8 |
117,786,259 (GRCm39) |
nonsense |
probably null |
|
IGL01353:Pkd1l2
|
APN |
8 |
117,784,182 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01362:Pkd1l2
|
APN |
8 |
117,748,595 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01486:Pkd1l2
|
APN |
8 |
117,786,331 (GRCm39) |
missense |
probably benign |
|
IGL01672:Pkd1l2
|
APN |
8 |
117,807,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01696:Pkd1l2
|
APN |
8 |
117,783,126 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01819:Pkd1l2
|
APN |
8 |
117,724,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01833:Pkd1l2
|
APN |
8 |
117,787,264 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01981:Pkd1l2
|
APN |
8 |
117,743,655 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02066:Pkd1l2
|
APN |
8 |
117,736,303 (GRCm39) |
splice site |
probably benign |
|
IGL02381:Pkd1l2
|
APN |
8 |
117,762,539 (GRCm39) |
splice site |
probably benign |
|
IGL02416:Pkd1l2
|
APN |
8 |
117,767,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02736:Pkd1l2
|
APN |
8 |
117,767,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02828:Pkd1l2
|
APN |
8 |
117,756,298 (GRCm39) |
missense |
probably benign |
|
IGL02861:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02862:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02883:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02884:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02894:Pkd1l2
|
APN |
8 |
117,740,630 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02900:Pkd1l2
|
APN |
8 |
117,750,830 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02901:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02929:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02941:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02957:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02969:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03028:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03059:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03065:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03066:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03083:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03084:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03124:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03162:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03165:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03335:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03357:Pkd1l2
|
APN |
8 |
117,722,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02835:Pkd1l2
|
UTSW |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
PIT4453001:Pkd1l2
|
UTSW |
8 |
117,748,761 (GRCm39) |
missense |
probably benign |
0.00 |
R0127:Pkd1l2
|
UTSW |
8 |
117,776,787 (GRCm39) |
splice site |
probably benign |
|
R0309:Pkd1l2
|
UTSW |
8 |
117,724,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R0365:Pkd1l2
|
UTSW |
8 |
117,748,589 (GRCm39) |
missense |
probably benign |
0.02 |
R0526:Pkd1l2
|
UTSW |
8 |
117,808,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Pkd1l2
|
UTSW |
8 |
117,808,957 (GRCm39) |
missense |
probably benign |
0.01 |
R0716:Pkd1l2
|
UTSW |
8 |
117,777,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Pkd1l2
|
UTSW |
8 |
117,802,916 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0893:Pkd1l2
|
UTSW |
8 |
117,771,231 (GRCm39) |
missense |
probably damaging |
0.99 |
R1256:Pkd1l2
|
UTSW |
8 |
117,746,282 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1391:Pkd1l2
|
UTSW |
8 |
117,781,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1474:Pkd1l2
|
UTSW |
8 |
117,792,236 (GRCm39) |
splice site |
probably benign |
|
R1491:Pkd1l2
|
UTSW |
8 |
117,755,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Pkd1l2
|
UTSW |
8 |
117,772,898 (GRCm39) |
missense |
probably benign |
0.00 |
R1521:Pkd1l2
|
UTSW |
8 |
117,792,239 (GRCm39) |
splice site |
probably null |
|
R1544:Pkd1l2
|
UTSW |
8 |
117,764,974 (GRCm39) |
frame shift |
probably null |
|
R1558:Pkd1l2
|
UTSW |
8 |
117,808,991 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1673:Pkd1l2
|
UTSW |
8 |
117,767,514 (GRCm39) |
missense |
probably benign |
0.00 |
R1691:Pkd1l2
|
UTSW |
8 |
117,783,158 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1754:Pkd1l2
|
UTSW |
8 |
117,757,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1857:Pkd1l2
|
UTSW |
8 |
117,767,408 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1939:Pkd1l2
|
UTSW |
8 |
117,772,921 (GRCm39) |
nonsense |
probably null |
|
R1955:Pkd1l2
|
UTSW |
8 |
117,770,100 (GRCm39) |
missense |
probably benign |
|
R1959:Pkd1l2
|
UTSW |
8 |
117,769,970 (GRCm39) |
critical splice donor site |
probably null |
|
R2024:Pkd1l2
|
UTSW |
8 |
117,746,272 (GRCm39) |
missense |
probably benign |
|
R2046:Pkd1l2
|
UTSW |
8 |
117,726,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Pkd1l2
|
UTSW |
8 |
117,808,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R2116:Pkd1l2
|
UTSW |
8 |
117,757,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2148:Pkd1l2
|
UTSW |
8 |
117,783,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R2251:Pkd1l2
|
UTSW |
8 |
117,784,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Pkd1l2
|
UTSW |
8 |
117,784,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R2366:Pkd1l2
|
UTSW |
8 |
117,770,056 (GRCm39) |
missense |
probably benign |
0.01 |
R2566:Pkd1l2
|
UTSW |
8 |
117,746,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R2872:Pkd1l2
|
UTSW |
8 |
117,764,903 (GRCm39) |
missense |
probably benign |
0.10 |
R2872:Pkd1l2
|
UTSW |
8 |
117,764,903 (GRCm39) |
missense |
probably benign |
0.10 |
R2985:Pkd1l2
|
UTSW |
8 |
117,792,290 (GRCm39) |
missense |
probably benign |
0.00 |
R3055:Pkd1l2
|
UTSW |
8 |
117,795,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3436:Pkd1l2
|
UTSW |
8 |
117,767,478 (GRCm39) |
missense |
probably benign |
0.01 |
R4732:Pkd1l2
|
UTSW |
8 |
117,722,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4733:Pkd1l2
|
UTSW |
8 |
117,722,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4763:Pkd1l2
|
UTSW |
8 |
117,746,168 (GRCm39) |
missense |
probably damaging |
0.96 |
R4789:Pkd1l2
|
UTSW |
8 |
117,738,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R4921:Pkd1l2
|
UTSW |
8 |
117,781,624 (GRCm39) |
missense |
probably benign |
0.03 |
R4921:Pkd1l2
|
UTSW |
8 |
117,799,288 (GRCm39) |
missense |
probably damaging |
0.97 |
R4999:Pkd1l2
|
UTSW |
8 |
117,774,113 (GRCm39) |
splice site |
probably null |
|
R5057:Pkd1l2
|
UTSW |
8 |
117,781,747 (GRCm39) |
missense |
probably benign |
0.21 |
R5209:Pkd1l2
|
UTSW |
8 |
117,783,181 (GRCm39) |
missense |
probably benign |
0.23 |
R5241:Pkd1l2
|
UTSW |
8 |
117,761,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Pkd1l2
|
UTSW |
8 |
117,757,388 (GRCm39) |
missense |
probably damaging |
0.99 |
R5501:Pkd1l2
|
UTSW |
8 |
117,792,569 (GRCm39) |
missense |
probably damaging |
0.98 |
R5533:Pkd1l2
|
UTSW |
8 |
117,794,855 (GRCm39) |
missense |
probably benign |
0.03 |
R5582:Pkd1l2
|
UTSW |
8 |
117,767,522 (GRCm39) |
nonsense |
probably null |
|
R5610:Pkd1l2
|
UTSW |
8 |
117,769,059 (GRCm39) |
missense |
probably benign |
0.04 |
R5770:Pkd1l2
|
UTSW |
8 |
117,781,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R5854:Pkd1l2
|
UTSW |
8 |
117,792,485 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5867:Pkd1l2
|
UTSW |
8 |
117,781,750 (GRCm39) |
missense |
probably damaging |
0.96 |
R5881:Pkd1l2
|
UTSW |
8 |
117,724,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R5906:Pkd1l2
|
UTSW |
8 |
117,756,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R5909:Pkd1l2
|
UTSW |
8 |
117,750,795 (GRCm39) |
missense |
probably benign |
0.00 |
R6030:Pkd1l2
|
UTSW |
8 |
117,769,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Pkd1l2
|
UTSW |
8 |
117,769,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Pkd1l2
|
UTSW |
8 |
117,740,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R6122:Pkd1l2
|
UTSW |
8 |
117,809,107 (GRCm39) |
missense |
probably benign |
0.02 |
R6216:Pkd1l2
|
UTSW |
8 |
117,808,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R6406:Pkd1l2
|
UTSW |
8 |
117,762,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R6417:Pkd1l2
|
UTSW |
8 |
117,740,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R6420:Pkd1l2
|
UTSW |
8 |
117,740,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R6601:Pkd1l2
|
UTSW |
8 |
117,767,405 (GRCm39) |
missense |
probably benign |
0.00 |
R6743:Pkd1l2
|
UTSW |
8 |
117,757,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Pkd1l2
|
UTSW |
8 |
117,740,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Pkd1l2
|
UTSW |
8 |
117,802,870 (GRCm39) |
nonsense |
probably null |
|
R7148:Pkd1l2
|
UTSW |
8 |
117,807,525 (GRCm39) |
missense |
probably benign |
0.00 |
R7169:Pkd1l2
|
UTSW |
8 |
117,767,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7217:Pkd1l2
|
UTSW |
8 |
117,722,536 (GRCm39) |
missense |
probably benign |
0.24 |
R7310:Pkd1l2
|
UTSW |
8 |
117,750,773 (GRCm39) |
missense |
probably benign |
|
R7382:Pkd1l2
|
UTSW |
8 |
117,781,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7397:Pkd1l2
|
UTSW |
8 |
117,762,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7408:Pkd1l2
|
UTSW |
8 |
117,755,218 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7437:Pkd1l2
|
UTSW |
8 |
117,757,421 (GRCm39) |
missense |
probably damaging |
0.96 |
R7492:Pkd1l2
|
UTSW |
8 |
117,794,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7496:Pkd1l2
|
UTSW |
8 |
117,787,333 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7519:Pkd1l2
|
UTSW |
8 |
117,792,268 (GRCm39) |
missense |
probably benign |
|
R7590:Pkd1l2
|
UTSW |
8 |
117,807,525 (GRCm39) |
missense |
probably benign |
0.00 |
R7623:Pkd1l2
|
UTSW |
8 |
117,756,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R7768:Pkd1l2
|
UTSW |
8 |
117,781,599 (GRCm39) |
critical splice donor site |
probably null |
|
R7897:Pkd1l2
|
UTSW |
8 |
117,724,827 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7982:Pkd1l2
|
UTSW |
8 |
117,777,926 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8024:Pkd1l2
|
UTSW |
8 |
117,802,921 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8140:Pkd1l2
|
UTSW |
8 |
117,774,236 (GRCm39) |
missense |
probably benign |
|
R8145:Pkd1l2
|
UTSW |
8 |
117,781,742 (GRCm39) |
missense |
probably benign |
|
R8228:Pkd1l2
|
UTSW |
8 |
117,792,514 (GRCm39) |
missense |
probably damaging |
0.97 |
R8252:Pkd1l2
|
UTSW |
8 |
117,767,472 (GRCm39) |
missense |
probably benign |
0.29 |
R8500:Pkd1l2
|
UTSW |
8 |
117,774,302 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8732:Pkd1l2
|
UTSW |
8 |
117,792,311 (GRCm39) |
missense |
probably benign |
0.28 |
R8809:Pkd1l2
|
UTSW |
8 |
117,726,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Pkd1l2
|
UTSW |
8 |
117,740,615 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8961:Pkd1l2
|
UTSW |
8 |
117,726,717 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8985:Pkd1l2
|
UTSW |
8 |
117,764,849 (GRCm39) |
missense |
probably benign |
0.01 |
R9008:Pkd1l2
|
UTSW |
8 |
117,769,037 (GRCm39) |
missense |
probably benign |
0.32 |
R9091:Pkd1l2
|
UTSW |
8 |
117,759,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9138:Pkd1l2
|
UTSW |
8 |
117,781,748 (GRCm39) |
missense |
probably benign |
0.43 |
R9160:Pkd1l2
|
UTSW |
8 |
117,767,408 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9249:Pkd1l2
|
UTSW |
8 |
117,746,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R9270:Pkd1l2
|
UTSW |
8 |
117,759,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9735:Pkd1l2
|
UTSW |
8 |
117,772,820 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Pkd1l2
|
UTSW |
8 |
117,781,653 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pkd1l2
|
UTSW |
8 |
117,757,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGGTGCTAAGACTGGTAC -3'
(R):5'- ACAGGTGAATCCCAGGTTATAATTG -3'
Sequencing Primer
(F):5'- GTGCTAAGACTGGTACCCACC -3'
(R):5'- GCTGCCCTGGAATAGCTCTATAG -3'
|
Posted On |
2014-08-01 |