Incidental Mutation 'R7777:Pkd2l2'
| ID |
598972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2l2
|
| Ensembl Gene |
ENSMUSG00000014503 |
| Gene Name |
polycystic kidney disease 2-like 2 |
| Synonyms |
Polycystin - L2, TRPP5 |
| MMRRC Submission |
045833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34549913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 186
(P186Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000166156]
|
| AlphaFold |
Q9JLG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014647
AA Change: P186Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: P186Q
| 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: P186Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: P186Q
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
| Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,911 (GRCm39) |
Y164* |
probably null |
Het |
| Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
| Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
| Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
| Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
| Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
| Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
| Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,228,946 (GRCm39) |
D823G |
possibly damaging |
Het |
| Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
| Spata31g1 |
C |
T |
4: 42,970,171 (GRCm39) |
Q53* |
probably null |
Het |
| Spata31g1 |
T |
C |
4: 42,971,095 (GRCm39) |
S143P |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
| Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
| Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
| Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
| Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,081 (GRCm39) |
F80S |
possibly 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 |
|
|
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 |
|
|
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'- AAAACCTGCTGAGTGTTGGCC -3'
(R):5'- TTTCCTAAGATAAGGCTCCCGAG -3'
Sequencing Primer
(F):5'- GTGTTGGCCCTTGTAACAAATTAAC -3'
(R):5'- CTCACCTGATGATGCAAAACAGGTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation