Incidental Mutation 'R5057:Pkd1l2'
| ID |
390934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1l2
|
| Ensembl Gene |
ENSMUSG00000034416 |
| Gene Name |
polycystic kidney disease 1 like 2 |
| Synonyms |
1700126L06Rik |
| MMRRC Submission |
042647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117722418-117809188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117781747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 766
(T766I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098375]
[ENSMUST00000109093]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098375
AA Change: T766I
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T766I
| 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 benign
Transcript: ENSMUST00000109093
AA Change: T766I
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T766I
| 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 |
|
| Meta Mutation Damage Score |
0.1085 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (118/122) |
| 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: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Acad12 |
T |
A |
5: 121,748,152 (GRCm39) |
T89S |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,722 (GRCm39) |
C1252R |
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,280 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
T |
C |
11: 72,650,745 (GRCm39) |
L976P |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,784,011 (GRCm39) |
I322F |
possibly damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,613 (GRCm39) |
T64S |
probably benign |
Het |
| Anxa6 |
T |
G |
11: 54,892,062 (GRCm39) |
E298A |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,144,903 (GRCm39) |
S605G |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,973,354 (GRCm39) |
F693L |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,685,197 (GRCm39) |
Y32H |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,257,092 (GRCm39) |
D252E |
probably benign |
Het |
| Ccdc92b |
C |
A |
11: 74,528,976 (GRCm39) |
T160K |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,958,063 (GRCm39) |
V635F |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,926,074 (GRCm39) |
A243S |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,979 (GRCm39) |
H2272Q |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,076 (GRCm39) |
V425D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 115,612,943 (GRCm39) |
T26I |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,743,852 (GRCm39) |
K165R |
possibly damaging |
Het |
| Copb1 |
A |
T |
7: 113,825,997 (GRCm39) |
N662K |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,865,104 (GRCm39) |
R1458* |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,145,186 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,924,324 (GRCm39) |
C430R |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,690 (GRCm39) |
E1847G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,033 (GRCm39) |
N856K |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Ephb3 |
A |
G |
16: 21,039,197 (GRCm39) |
D351G |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,543,564 (GRCm39) |
N582K |
probably damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,397 (GRCm39) |
C192S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,308,615 (GRCm39) |
V149A |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,232 (GRCm39) |
S170P |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,990,802 (GRCm39) |
R965* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,442,617 (GRCm39) |
D2640G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,563 (GRCm39) |
T26A |
probably benign |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,369 (GRCm39) |
R277Q |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,151,883 (GRCm39) |
H29L |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,722,572 (GRCm39) |
C1265S |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,045 (GRCm39) |
F278L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,882,318 (GRCm39) |
I393F |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,040,982 (GRCm39) |
C1447Y |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,665,005 (GRCm39) |
G2275S |
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,780,307 (GRCm39) |
H427L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,856,558 (GRCm39) |
S164T |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,155 (GRCm39) |
T1630S |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,073 (GRCm39) |
N1848K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,125,130 (GRCm39) |
V307E |
possibly damaging |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,130,956 (GRCm39) |
N320K |
probably damaging |
Het |
| Nipal3 |
T |
A |
4: 135,194,167 (GRCm39) |
I289F |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,189,880 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,804 (GRCm39) |
I528F |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,669 (GRCm39) |
N294T |
probably damaging |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,581,930 (GRCm39) |
I935M |
possibly damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Polr3c |
C |
A |
3: 96,619,373 (GRCm39) |
L508F |
probably damaging |
Het |
| Por |
A |
G |
5: 135,759,756 (GRCm39) |
D189G |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,766 (GRCm39) |
F207I |
probably benign |
Het |
| Prim2 |
A |
T |
1: 33,669,441 (GRCm39) |
L178* |
probably null |
Het |
| Prima1 |
C |
A |
12: 103,168,864 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,645,666 (GRCm39) |
R1091C |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,830,102 (GRCm39) |
I503K |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,938,806 (GRCm39) |
C489S |
probably benign |
Het |
| Rpl10a |
A |
T |
17: 28,549,607 (GRCm39) |
H140L |
probably benign |
Het |
| Rpl7-ps8 |
A |
T |
15: 59,083,004 (GRCm39) |
|
noncoding transcript |
Het |
| Rtbdn |
T |
C |
8: 85,681,638 (GRCm39) |
F143S |
probably damaging |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,114,922 (GRCm39) |
S848G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,863,979 (GRCm39) |
V487A |
probably damaging |
Het |
| Shc2 |
G |
A |
10: 79,459,706 (GRCm39) |
P413S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,070,618 (GRCm39) |
N966S |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,554,790 (GRCm39) |
E78G |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,246,332 (GRCm39) |
V900A |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Spire2 |
G |
A |
8: 124,084,940 (GRCm39) |
R260H |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,051,292 (GRCm39) |
I518F |
probably damaging |
Het |
| Tardbp |
T |
A |
4: 148,703,813 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,066,456 (GRCm39) |
Y2335H |
probably benign |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,105,705 (GRCm39) |
V358A |
probably benign |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,444 (GRCm39) |
T5A |
probably benign |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,630 (GRCm39) |
Y480H |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,379 (GRCm39) |
K22759* |
probably null |
Het |
| Ttn |
C |
A |
2: 76,748,988 (GRCm39) |
L4020F |
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,544,318 (GRCm39) |
F572L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,353 (GRCm39) |
V1332A |
probably damaging |
Het |
| Ubtd2 |
C |
A |
11: 32,466,320 (GRCm39) |
R180S |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,913 (GRCm39) |
S673P |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,487 (GRCm39) |
D5V |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,330 (GRCm39) |
V312I |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,899,655 (GRCm39) |
H426N |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,408,086 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,575 (GRCm39) |
T290S |
possibly damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,207 (GRCm39) |
K839N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,819 (GRCm39) |
I699T |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
probably 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 |
|
|
R1957:Pkd1l2
|
UTSW |
8 |
117,757,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GACTGCATCTCCCTGACATG -3'
(R):5'- CTCTAGATATGTCAGAGGCTGC -3'
Sequencing Primer
(F):5'- CCCATTCTTAGAGAAGATGAGTCTGG -3'
(R):5'- AGATATGTCAGAGGCTGCTTGCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation