Incidental Mutation 'R4058:Pkd2l2'
ID |
314357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkd2l2
|
Ensembl Gene |
ENSMUSG00000014503 |
Gene Name |
polycystic kidney disease 2-like 2 |
Synonyms |
Polycystin - L2, TRPP5 |
MMRRC Submission |
040969-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4058 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34561245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 418
(F418L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000166156]
|
AlphaFold |
Q9JLG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014647
AA Change: F418L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000014647 Gene: ENSMUSG00000014503 AA Change: F418L
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: ENSMUST00000166156
AA Change: F418L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000127257 Gene: ENSMUSG00000014503 AA Change: F418L
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 |
|
Meta Mutation Damage Score |
0.5274 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
88% (38/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCCCATGCACATCATTGTC -3'
(R):5'- ACGTCGTTTGCATGGCATG -3'
Sequencing Primer
(F):5'- CATCATTGTCTTCTTATTTGGCAAG -3'
(R):5'- GTCTTAGGTGAAATATAGAACCAAGC -3'
|
Posted On |
2015-04-30 |