Incidental Mutation 'IGL02480:Pkd2l2'
| ID |
295172 |
| 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 # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34571843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 614
(N614S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000040506]
[ENSMUST00000166156]
|
| AlphaFold |
Q9JLG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014647
AA Change: N614S
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: N614S
| 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 benign
Transcript: ENSMUST00000040506
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
RhoGAP
|
36 |
209 |
3.28e-44 |
SMART |
|
coiled coil region
|
220 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
coiled coil region
|
507 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
726 |
N/A |
INTRINSIC |
|
coiled coil region
|
778 |
807 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166156
AA Change: N614S
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: N614S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
| Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
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 |
|
|
IGL02742:Pkd2l2
|
APN |
18 |
34,549,970 (GRCm39) |
nonsense |
probably null |
|
|
IGL02818:Pkd2l2
|
APN |
18 |
34,545,862 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation