Incidental Mutation 'IGL02818:Pkd2l2'
| ID |
360881 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pkd2l2
|
| Ensembl Gene |
ENSMUSG00000014503 |
| Gene Name |
polycystic kidney disease 2-like 2 |
| Synonyms |
Polycystin - L2, TRPP5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34545862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 88
(W88R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000166156]
|
| AlphaFold |
Q9JLG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014647
AA Change: W88R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: W88R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
51 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
75 |
497 |
9.8e-129 |
PFAM |
|
Pfam:Ion_trans
|
281 |
490 |
4.1e-19 |
PFAM |
|
coiled coil region
|
523 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166156
AA Change: W88R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: W88R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
51 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
75 |
497 |
9.6e-131 |
PFAM |
|
Pfam:Ion_trans
|
242 |
502 |
4.8e-20 |
PFAM |
|
coiled coil region
|
523 |
550 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,519,326 (GRCm39) |
F653S |
probably benign |
Het |
| Acsm2 |
A |
G |
7: 119,172,804 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,429,292 (GRCm39) |
H31Y |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,449,865 (GRCm39) |
S184R |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,919,245 (GRCm39) |
L619P |
probably damaging |
Het |
| Clec14a |
A |
T |
12: 58,314,888 (GRCm39) |
C245S |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,103,521 (GRCm39) |
C247R |
probably damaging |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,169,496 (GRCm39) |
S637P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,690,331 (GRCm39) |
I230K |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,329,968 (GRCm39) |
Y3271H |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,996,174 (GRCm39) |
I1129N |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,167,674 (GRCm39) |
A445S |
probably damaging |
Het |
| Gldc |
A |
G |
19: 30,113,909 (GRCm39) |
S498P |
probably damaging |
Het |
| Gm973 |
T |
C |
1: 59,580,634 (GRCm39) |
|
probably null |
Het |
| Hpdl |
T |
C |
4: 116,677,439 (GRCm39) |
I341V |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,463,078 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
A |
9: 110,314,217 (GRCm39) |
Y76N |
probably damaging |
Het |
| Lct |
T |
G |
1: 128,227,905 (GRCm39) |
E1196A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,132 (GRCm39) |
I1098V |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,601 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
C |
19: 18,618,623 (GRCm39) |
L102P |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,100,635 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,298,270 (GRCm39) |
T603A |
probably benign |
Het |
| Or12j2 |
A |
T |
7: 139,916,519 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Or8k38 |
T |
A |
2: 86,488,128 (GRCm39) |
I225F |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,626 (GRCm39) |
Y542C |
probably damaging |
Het |
| Ppp1r1b |
C |
T |
11: 98,242,096 (GRCm39) |
T21I |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,575 (GRCm39) |
H706N |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,019,121 (GRCm39) |
V14A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,943,848 (GRCm39) |
S988R |
possibly damaging |
Het |
| Trpm6 |
C |
A |
19: 18,843,621 (GRCm39) |
Q1662K |
probably benign |
Het |
| Utp3 |
T |
A |
5: 88,703,267 (GRCm39) |
Y265* |
probably null |
Het |
| Vwf |
A |
G |
6: 125,640,511 (GRCm39) |
T2316A |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,150,841 (GRCm39) |
F185L |
probably benign |
Het |
| Zwilch |
G |
A |
9: 64,057,509 (GRCm39) |
T395I |
probably damaging |
Het |
|
| Other mutations in Pkd2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01128:Pkd2l2
|
APN |
18 |
34,550,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Pkd2l2
|
APN |
18 |
34,550,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Pkd2l2
|
APN |
18 |
34,568,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02139:Pkd2l2
|
APN |
18 |
34,545,768 (GRCm39) |
nonsense |
probably null |
|
|
IGL02480:Pkd2l2
|
APN |
18 |
34,571,843 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02742:Pkd2l2
|
APN |
18 |
34,549,970 (GRCm39) |
nonsense |
probably null |
|
|
IGL03218:Pkd2l2
|
APN |
18 |
34,563,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03345:Pkd2l2
|
APN |
18 |
34,558,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Pkd2l2
|
UTSW |
18 |
34,568,380 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0627:Pkd2l2
|
UTSW |
18 |
34,558,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Pkd2l2
|
UTSW |
18 |
34,563,321 (GRCm39) |
splice site |
probably null |
|
|
R0973:Pkd2l2
|
UTSW |
18 |
34,561,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Pkd2l2
|
UTSW |
18 |
34,561,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Pkd2l2
|
UTSW |
18 |
34,561,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Pkd2l2
|
UTSW |
18 |
34,571,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1529:Pkd2l2
|
UTSW |
18 |
34,563,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Pkd2l2
|
UTSW |
18 |
34,560,446 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2229:Pkd2l2
|
UTSW |
18 |
34,563,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Pkd2l2
|
UTSW |
18 |
34,571,843 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4058:Pkd2l2
|
UTSW |
18 |
34,561,245 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4600:Pkd2l2
|
UTSW |
18 |
34,571,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4651:Pkd2l2
|
UTSW |
18 |
34,542,889 (GRCm39) |
nonsense |
probably null |
|
|
R4652:Pkd2l2
|
UTSW |
18 |
34,542,889 (GRCm39) |
nonsense |
probably null |
|
|
R5114:Pkd2l2
|
UTSW |
18 |
34,566,355 (GRCm39) |
missense |
probably benign |
|
|
R5341:Pkd2l2
|
UTSW |
18 |
34,542,987 (GRCm39) |
splice site |
probably null |
|
|
R5686:Pkd2l2
|
UTSW |
18 |
34,558,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Pkd2l2
|
UTSW |
18 |
34,563,826 (GRCm39) |
missense |
probably benign |
|
|
R6061:Pkd2l2
|
UTSW |
18 |
34,563,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Pkd2l2
|
UTSW |
18 |
34,561,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Pkd2l2
|
UTSW |
18 |
34,547,733 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6293:Pkd2l2
|
UTSW |
18 |
34,560,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Pkd2l2
|
UTSW |
18 |
34,571,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6574:Pkd2l2
|
UTSW |
18 |
34,558,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Pkd2l2
|
UTSW |
18 |
34,571,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6941:Pkd2l2
|
UTSW |
18 |
34,549,936 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6958:Pkd2l2
|
UTSW |
18 |
34,542,543 (GRCm39) |
nonsense |
probably null |
|
|
R7052:Pkd2l2
|
UTSW |
18 |
34,558,212 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7695:Pkd2l2
|
UTSW |
18 |
34,561,298 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7763:Pkd2l2
|
UTSW |
18 |
34,566,340 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7777:Pkd2l2
|
UTSW |
18 |
34,549,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Pkd2l2
|
UTSW |
18 |
34,560,481 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8003:Pkd2l2
|
UTSW |
18 |
34,561,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8468:Pkd2l2
|
UTSW |
18 |
34,560,464 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8482:Pkd2l2
|
UTSW |
18 |
34,558,166 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8729:Pkd2l2
|
UTSW |
18 |
34,566,354 (GRCm39) |
missense |
probably benign |
|
|
R8894:Pkd2l2
|
UTSW |
18 |
34,571,273 (GRCm39) |
splice site |
probably benign |
|
|
R9336:Pkd2l2
|
UTSW |
18 |
34,561,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Pkd2l2
|
UTSW |
18 |
34,563,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation