Incidental Mutation 'R8482:Pkd2l2'
| ID |
657595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2l2
|
| Ensembl Gene |
ENSMUSG00000014503 |
| Gene Name |
polycystic kidney disease 2-like 2 |
| Synonyms |
Polycystin - L2, TRPP5 |
| MMRRC Submission |
067926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34558166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 282
(I282V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000166156]
|
| AlphaFold |
Q9JLG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014647
AA Change: I282V
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: I282V
| 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 |
possibly damaging
Transcript: ENSMUST00000166156
AA Change: I282V
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: I282V
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,746,492 (GRCm39) |
V711I |
probably benign |
Het |
| Adprh |
A |
T |
16: 38,267,871 (GRCm39) |
M138K |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,591,107 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,870 (GRCm39) |
T410M |
probably damaging |
Het |
| Atxn1 |
A |
T |
13: 45,721,426 (GRCm39) |
S156R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,934,524 (GRCm39) |
T2850A |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,414,427 (GRCm39) |
D109G |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,100,630 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,720,477 (GRCm39) |
I317T |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,058,852 (GRCm39) |
S349R |
probably benign |
Het |
| Eml5 |
C |
A |
12: 98,842,560 (GRCm39) |
L179F |
probably damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,516,019 (GRCm39) |
M200L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,158,263 (GRCm39) |
T1116A |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,751,616 (GRCm38) |
V24A |
probably benign |
Het |
| Gm6685 |
T |
C |
11: 28,289,195 (GRCm39) |
N207S |
probably benign |
Het |
| Hdc |
G |
A |
2: 126,436,125 (GRCm39) |
T582M |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,756,222 (GRCm39) |
C575Y |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,090,527 (GRCm39) |
S1164T |
probably benign |
Het |
| Ldb1 |
C |
A |
19: 46,024,709 (GRCm39) |
D5Y |
probably null |
Het |
| Lpcat1 |
G |
A |
13: 73,659,044 (GRCm39) |
R320H |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,664,333 (GRCm39) |
D67G |
probably damaging |
Het |
| Myo15b |
C |
T |
11: 115,774,083 (GRCm39) |
Q550* |
probably null |
Het |
| Myo18b |
C |
A |
5: 113,019,489 (GRCm39) |
E43* |
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,241,719 (GRCm39) |
C271R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,827 (GRCm39) |
S690G |
probably damaging |
Het |
| Ngly1 |
T |
C |
14: 16,310,377 (GRCm38) |
S501P |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,999,901 (GRCm39) |
|
probably null |
Het |
| Npw |
A |
G |
17: 24,876,396 (GRCm39) |
W172R |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,050,849 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,219,352 (GRCm39) |
Y458F |
probably damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,726 (GRCm39) |
V198I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,258,731 (GRCm39) |
T280S |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,662,923 (GRCm39) |
I505F |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,029,864 (GRCm39) |
E756G |
probably benign |
Het |
| Pnpla8 |
T |
C |
12: 44,330,410 (GRCm39) |
S321P |
probably benign |
Het |
| Prxl2a |
C |
T |
14: 40,719,723 (GRCm39) |
E164K |
probably benign |
Het |
| Qdpr |
G |
T |
5: 45,596,688 (GRCm39) |
Q159K |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,206 (GRCm39) |
M45V |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,263,908 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Sacs |
G |
T |
14: 61,440,404 (GRCm39) |
V817L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,495,889 (GRCm39) |
F133S |
probably damaging |
Het |
| Sgcg |
G |
A |
14: 61,477,856 (GRCm39) |
L78F |
probably damaging |
Het |
| Slc19a1 |
A |
G |
10: 76,885,497 (GRCm39) |
R466G |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,309,451 (GRCm39) |
T1736A |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,674,511 (GRCm39) |
I1854V |
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,643,719 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp998 |
C |
T |
13: 66,579,797 (GRCm39) |
|
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 |
|
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 |
|
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'- GTGATTAGCATTGAGTTACATGGCATC -3'
(R):5'- GTAAGTCTTGGATGAATAGAAAGTCGC -3'
Sequencing Primer
(F):5'- TGAGTTACATGGCATCATTGATTTAG -3'
(R):5'- CTGTAGGTTCAGAAGGGATCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation