Incidental Mutation 'R8729:Pkd2l2'
| ID |
662674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2l2
|
| Ensembl Gene |
ENSMUSG00000014503 |
| Gene Name |
polycystic kidney disease 2-like 2 |
| Synonyms |
Polycystin - L2, TRPP5 |
| MMRRC Submission |
068577-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8729 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34566354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 522
(V522I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000166156]
|
| AlphaFold |
Q9JLG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014647
AA Change: V522I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: V522I
| 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: V522I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: V522I
| 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: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,176 (GRCm39) |
Y148* |
probably null |
Het |
| Ank3 |
A |
G |
10: 69,838,428 (GRCm39) |
D1812G |
possibly damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,443,452 (GRCm39) |
C405Y |
probably benign |
Het |
| Ankrd61 |
A |
G |
5: 143,827,803 (GRCm39) |
Y391H |
probably benign |
Het |
| Calcb |
A |
C |
7: 114,319,428 (GRCm39) |
E70A |
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,831 (GRCm39) |
K233R |
probably benign |
Het |
| Ccz1 |
T |
C |
5: 143,948,310 (GRCm39) |
D115G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,310,893 (GRCm39) |
L1203* |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,356,638 (GRCm39) |
D1648N |
|
Het |
| Csn1s1 |
T |
C |
5: 87,824,998 (GRCm39) |
|
probably null |
Het |
| Depp1 |
C |
A |
6: 116,628,762 (GRCm39) |
P35H |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,821,864 (GRCm39) |
P52Q |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,198 (GRCm39) |
E441G |
probably null |
Het |
| Gpat2 |
C |
A |
2: 127,275,739 (GRCm39) |
Q506K |
probably damaging |
Het |
| Gramd1a |
C |
A |
7: 30,843,248 (GRCm39) |
R20L |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,528,754 (GRCm39) |
|
probably null |
Het |
| Hif1a |
A |
G |
12: 73,990,902 (GRCm39) |
N725D |
probably damaging |
Het |
| Ighv3-3 |
A |
T |
12: 114,160,252 (GRCm39) |
W53R |
possibly damaging |
Het |
| Kat2a |
T |
C |
11: 100,601,337 (GRCm39) |
K331R |
probably benign |
Het |
| Klk1b4 |
T |
A |
7: 43,856,884 (GRCm39) |
F3I |
probably damaging |
Het |
| Krt78 |
T |
G |
15: 101,855,455 (GRCm39) |
Q785H |
probably damaging |
Het |
| Lsm11 |
C |
T |
11: 45,835,727 (GRCm39) |
E5K |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,985 (GRCm39) |
K145R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,973,462 (GRCm39) |
T506A |
probably benign |
Het |
| Msrb3 |
A |
C |
10: 120,687,974 (GRCm39) |
C34G |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,571,346 (GRCm39) |
D391G |
unknown |
Het |
| Mybpc2 |
C |
T |
7: 44,155,611 (GRCm39) |
V881M |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,881,851 (GRCm39) |
K31R |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,758 (GRCm39) |
K346* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,965,727 (GRCm39) |
T118I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,799,946 (GRCm39) |
L91Q |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,071,428 (GRCm39) |
K893N |
probably benign |
Het |
| Nmd3 |
A |
T |
3: 69,655,682 (GRCm39) |
K454N |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,523 (GRCm39) |
C179R |
probably damaging |
Het |
| Pcdhb9 |
C |
A |
18: 37,535,639 (GRCm39) |
D544E |
possibly damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,866 (GRCm39) |
I312V |
probably damaging |
Het |
| Polr3c |
C |
T |
3: 96,634,796 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,583,052 (GRCm39) |
H271Q |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,566,927 (GRCm39) |
S59P |
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,305 (GRCm39) |
N382I |
unknown |
Het |
| Sirt1 |
A |
G |
10: 63,156,705 (GRCm39) |
F642L |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,099 (GRCm39) |
D275G |
possibly damaging |
Het |
| Speer4a3 |
A |
G |
5: 26,158,178 (GRCm39) |
V58A |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,142,005 (GRCm39) |
T414I |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,179,275 (GRCm39) |
M4400L |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,376 (GRCm39) |
H156L |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 38,978,272 (GRCm39) |
M140I |
probably benign |
Het |
| Tcof1 |
G |
T |
18: 60,962,145 (GRCm39) |
P695T |
unknown |
Het |
| Tmprss9 |
A |
T |
10: 80,726,177 (GRCm39) |
M476L |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,562,591 (GRCm39) |
I73N |
probably damaging |
Het |
| Trp53bp2 |
A |
T |
1: 182,276,587 (GRCm39) |
E856V |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,383,509 (GRCm39) |
|
probably null |
Het |
| Ttn |
AC |
A |
2: 76,749,528 (GRCm39) |
|
probably null |
Het |
| Twf1 |
T |
C |
15: 94,479,212 (GRCm39) |
N216D |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,647,649 (GRCm39) |
H1530N |
probably benign |
Het |
| Vmn1r235 |
A |
T |
17: 21,481,875 (GRCm39) |
M67L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,767,239 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,157,071 (GRCm39) |
N524K |
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 |
|
R8482:Pkd2l2
|
UTSW |
18 |
34,558,166 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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'- CTTCATAAAGGCACAGTGAGAGGA -3'
(R):5'- CTGCTAACCCTGTCCTAAGTTG -3'
Sequencing Primer
(F):5'- TAGGCAGGAGTCCTTACA -3'
(R):5'- GATGTTCTTTACAGAATTTGCAA -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation