Incidental Mutation 'R6941:Pkd2l2'
| ID |
540574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2l2
|
| Ensembl Gene |
ENSMUSG00000014503 |
| Gene Name |
polycystic kidney disease 2-like 2 |
| Synonyms |
Polycystin - L2, TRPP5 |
| MMRRC Submission |
045055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34541553-34575842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34549936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 194
(V194L)
|
| 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: V194L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: V194L
| 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: V194L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: V194L
| 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: 99.1%
- 20x: 97.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,140,370 (GRCm39) |
I1557F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,787,420 (GRCm39) |
D176E |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,922 (GRCm39) |
V11E |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,986,609 (GRCm39) |
H225R |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,501,203 (GRCm39) |
Y1016H |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,267 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,819,469 (GRCm39) |
V481A |
probably benign |
Het |
| Cabp1 |
A |
T |
5: 115,310,960 (GRCm39) |
D295E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,699 (GRCm39) |
T582S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,076,758 (GRCm39) |
S145P |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,857,297 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,246 (GRCm39) |
Y353C |
probably benign |
Het |
| Dsg1c |
C |
T |
18: 20,400,980 (GRCm39) |
T161I |
probably damaging |
Het |
| Epm2a |
A |
G |
10: 11,266,829 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,152,914 (GRCm39) |
H3766R |
probably benign |
Het |
| Fjx1 |
A |
G |
2: 102,280,903 (GRCm39) |
V344A |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,016,363 (GRCm39) |
I93V |
probably benign |
Het |
| Gbe1 |
TAGTAAGAGT |
TAGT |
16: 70,230,444 (GRCm39) |
|
probably benign |
Het |
| Gdf15 |
A |
G |
8: 71,082,794 (GRCm39) |
L104P |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,393,961 (GRCm39) |
R24Q |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ipmk |
G |
A |
10: 71,183,920 (GRCm39) |
G47S |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,679,641 (GRCm39) |
I150T |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,476,068 (GRCm39) |
Y545C |
probably damaging |
Het |
| Klk1b8 |
C |
A |
7: 43,602,213 (GRCm39) |
H48Q |
possibly damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,678,969 (GRCm39) |
Y376C |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,941,222 (GRCm39) |
D278E |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Ndst4 |
T |
G |
3: 125,403,160 (GRCm39) |
H422Q |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,430,376 (GRCm39) |
E206G |
probably damaging |
Het |
| Nufip2 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 77,577,122 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,861 (GRCm39) |
N170K |
possibly damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,048 (GRCm39) |
Y438C |
probably damaging |
Het |
| Pigr |
G |
T |
1: 130,775,064 (GRCm39) |
W497L |
probably damaging |
Het |
| Ppp1r16b |
A |
T |
2: 158,538,068 (GRCm39) |
K5M |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,898,307 (GRCm39) |
S35R |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,424,385 (GRCm39) |
M126I |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,303 (GRCm39) |
Q258* |
probably null |
Het |
| Rad51d |
A |
G |
11: 82,780,623 (GRCm39) |
L53P |
probably damaging |
Het |
| Rell2 |
G |
A |
18: 38,091,341 (GRCm39) |
A169T |
probably benign |
Het |
| Rnf19b |
T |
C |
4: 128,976,572 (GRCm39) |
I545T |
probably benign |
Het |
| Slc12a1 |
G |
T |
2: 125,055,999 (GRCm39) |
E843D |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,346 (GRCm39) |
S507P |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,290,473 (GRCm39) |
W316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,180,152 (GRCm39) |
L252P |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,385,811 (GRCm39) |
|
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,769 (GRCm39) |
T1850A |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,266,365 (GRCm39) |
T604A |
possibly damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,846 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,451 (GRCm39) |
R76G |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,330,977 (GRCm39) |
A419S |
probably damaging |
Het |
| Usp54 |
T |
G |
14: 20,612,177 (GRCm39) |
I880L |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,134 (GRCm39) |
V377D |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,581,159 (GRCm39) |
E65D |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,121,491 (GRCm39) |
E134G |
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 |
|
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'- TAAAACCTGCTGAGTGTTGGC -3'
(R):5'- GTTTCCTAAGATAAGGCTCCCG -3'
Sequencing Primer
(F):5'- GTGTTGGCCCTTGTAACAAATTAAC -3'
(R):5'- GAGCCACTCACCTGATGATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation