Incidental Mutation 'R4180:Pkd2l1'
ID |
319713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkd2l1
|
Ensembl Gene |
ENSMUSG00000037578 |
Gene Name |
polycystic kidney disease 2-like 1 |
Synonyms |
PKD2L, polycystin-L, PCL, TRPP3, Pkdl |
MMRRC Submission |
041016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R4180 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44180620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 32
(N32D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
AlphaFold |
A2A259 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
AA Change: N32D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000045675 Gene: ENSMUSG00000037578 AA Change: N32D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
145 |
567 |
1.3e-172 |
PFAM |
Pfam:Ion_trans
|
335 |
572 |
1.8e-30 |
PFAM |
low complexity region
|
592 |
598 |
N/A |
INTRINSIC |
SCOP:d2pvba_
|
616 |
676 |
2e-4 |
SMART |
PDB:4GIF|A
|
698 |
739 |
1e-17 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161357
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (52/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,331,590 (GRCm39) |
S1326P |
possibly damaging |
Het |
Adam22 |
T |
G |
5: 8,199,218 (GRCm39) |
D246A |
probably damaging |
Het |
Bmf |
T |
C |
2: 118,363,018 (GRCm39) |
|
probably benign |
Het |
Cd300lf |
T |
C |
11: 115,015,089 (GRCm39) |
Y160C |
possibly damaging |
Het |
Chuk |
G |
A |
19: 44,090,279 (GRCm39) |
A71V |
probably benign |
Het |
Col19a1 |
C |
T |
1: 24,309,473 (GRCm39) |
G1060E |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,904,973 (GRCm39) |
V634A |
probably benign |
Het |
Dpm3 |
A |
G |
3: 89,174,039 (GRCm39) |
|
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Fam184b |
T |
C |
5: 45,697,106 (GRCm39) |
E686G |
probably benign |
Het |
Fhad1 |
T |
A |
4: 141,712,854 (GRCm39) |
D195V |
possibly damaging |
Het |
Glis2 |
T |
C |
16: 4,429,240 (GRCm39) |
S148P |
probably benign |
Het |
Gm8587 |
C |
T |
12: 88,056,516 (GRCm39) |
|
noncoding transcript |
Het |
Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
Haus6 |
A |
T |
4: 86,501,811 (GRCm39) |
W687R |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
Ints9 |
T |
C |
14: 65,230,430 (GRCm39) |
L119P |
probably damaging |
Het |
Itga9 |
T |
C |
9: 118,436,146 (GRCm39) |
Y51H |
probably damaging |
Het |
Klf17 |
T |
A |
4: 117,616,383 (GRCm39) |
H316L |
probably benign |
Het |
Klf4 |
C |
T |
4: 55,530,884 (GRCm39) |
G26R |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
A |
G |
17: 89,049,711 (GRCm39) |
V605A |
probably damaging |
Het |
Mafa |
T |
C |
15: 75,619,413 (GRCm39) |
Y120C |
possibly damaging |
Het |
Map3k20 |
A |
G |
2: 72,271,915 (GRCm39) |
Y681C |
probably damaging |
Het |
Nub1 |
T |
C |
5: 24,897,875 (GRCm39) |
I87T |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,242 (GRCm39) |
V37D |
probably damaging |
Het |
Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,299,898 (GRCm39) |
V256D |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Prkcd |
A |
G |
14: 30,332,261 (GRCm39) |
|
probably benign |
Het |
Rgcc |
T |
C |
14: 79,538,155 (GRCm39) |
S79G |
probably benign |
Het |
Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
Stxbp5l |
A |
T |
16: 37,068,242 (GRCm39) |
C315S |
probably benign |
Het |
Tc2n |
A |
G |
12: 101,631,954 (GRCm39) |
L301P |
probably damaging |
Het |
Tcerg1l |
T |
C |
7: 137,878,405 (GRCm39) |
|
probably null |
Het |
Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
C |
2: 120,907,442 (GRCm39) |
I94V |
probably benign |
Het |
Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trbv4 |
A |
C |
6: 41,036,646 (GRCm39) |
D57A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,192,426 (GRCm39) |
D396G |
probably benign |
Het |
Txnrd2 |
C |
G |
16: 18,245,175 (GRCm39) |
|
probably null |
Het |
Zfp445 |
T |
C |
9: 122,681,589 (GRCm39) |
N784S |
probably benign |
Het |
Zfp459 |
G |
T |
13: 67,556,562 (GRCm39) |
L174I |
probably benign |
Het |
|
Other mutations in Pkd2l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Pkd2l1
|
APN |
19 |
44,146,075 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00426:Pkd2l1
|
APN |
19 |
44,144,044 (GRCm39) |
missense |
probably benign |
0.21 |
IGL00848:Pkd2l1
|
APN |
19 |
44,180,718 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01315:Pkd2l1
|
APN |
19 |
44,180,635 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01654:Pkd2l1
|
APN |
19 |
44,142,662 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01786:Pkd2l1
|
APN |
19 |
44,179,881 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02174:Pkd2l1
|
APN |
19 |
44,145,707 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02648:Pkd2l1
|
APN |
19 |
44,143,975 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0654:Pkd2l1
|
UTSW |
19 |
44,146,070 (GRCm39) |
splice site |
probably null |
|
R0762:Pkd2l1
|
UTSW |
19 |
44,138,909 (GRCm39) |
missense |
probably benign |
0.19 |
R0981:Pkd2l1
|
UTSW |
19 |
44,142,861 (GRCm39) |
critical splice donor site |
probably null |
|
R1114:Pkd2l1
|
UTSW |
19 |
44,179,983 (GRCm39) |
splice site |
probably benign |
|
R1381:Pkd2l1
|
UTSW |
19 |
44,138,902 (GRCm39) |
missense |
probably benign |
0.08 |
R1467:Pkd2l1
|
UTSW |
19 |
44,142,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1467:Pkd2l1
|
UTSW |
19 |
44,142,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1754:Pkd2l1
|
UTSW |
19 |
44,144,040 (GRCm39) |
nonsense |
probably null |
|
R2009:Pkd2l1
|
UTSW |
19 |
44,144,403 (GRCm39) |
missense |
probably benign |
0.01 |
R2125:Pkd2l1
|
UTSW |
19 |
44,142,939 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2696:Pkd2l1
|
UTSW |
19 |
44,145,708 (GRCm39) |
missense |
probably benign |
0.01 |
R3001:Pkd2l1
|
UTSW |
19 |
44,143,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3002:Pkd2l1
|
UTSW |
19 |
44,143,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3701:Pkd2l1
|
UTSW |
19 |
44,145,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R4179:Pkd2l1
|
UTSW |
19 |
44,180,620 (GRCm39) |
missense |
probably benign |
0.01 |
R4614:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4616:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4617:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4618:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4762:Pkd2l1
|
UTSW |
19 |
44,144,060 (GRCm39) |
missense |
probably benign |
0.09 |
R4893:Pkd2l1
|
UTSW |
19 |
44,142,210 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Pkd2l1
|
UTSW |
19 |
44,142,581 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5004:Pkd2l1
|
UTSW |
19 |
44,138,016 (GRCm39) |
missense |
probably benign |
0.00 |
R5380:Pkd2l1
|
UTSW |
19 |
44,146,171 (GRCm39) |
missense |
probably benign |
0.33 |
R5480:Pkd2l1
|
UTSW |
19 |
44,180,595 (GRCm39) |
missense |
probably benign |
0.18 |
R5950:Pkd2l1
|
UTSW |
19 |
44,140,529 (GRCm39) |
missense |
probably benign |
0.27 |
R6248:Pkd2l1
|
UTSW |
19 |
44,146,108 (GRCm39) |
missense |
probably benign |
0.00 |
R6908:Pkd2l1
|
UTSW |
19 |
44,140,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Pkd2l1
|
UTSW |
19 |
44,179,947 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7021:Pkd2l1
|
UTSW |
19 |
44,142,647 (GRCm39) |
missense |
probably damaging |
0.98 |
R7322:Pkd2l1
|
UTSW |
19 |
44,146,129 (GRCm39) |
missense |
probably benign |
0.00 |
R7378:Pkd2l1
|
UTSW |
19 |
44,142,154 (GRCm39) |
missense |
probably benign |
0.05 |
R7442:Pkd2l1
|
UTSW |
19 |
44,145,668 (GRCm39) |
missense |
probably benign |
0.01 |
R7636:Pkd2l1
|
UTSW |
19 |
44,179,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7954:Pkd2l1
|
UTSW |
19 |
44,142,651 (GRCm39) |
missense |
probably benign |
0.15 |
R7989:Pkd2l1
|
UTSW |
19 |
44,142,507 (GRCm39) |
missense |
probably benign |
0.10 |
R9007:Pkd2l1
|
UTSW |
19 |
44,140,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9245:Pkd2l1
|
UTSW |
19 |
44,143,894 (GRCm39) |
missense |
probably benign |
0.33 |
R9675:Pkd2l1
|
UTSW |
19 |
44,137,696 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Pkd2l1
|
UTSW |
19 |
44,145,621 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pkd2l1
|
UTSW |
19 |
44,137,710 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCCAGGAAAACCTCTCCTTG -3'
(R):5'- CCGAGGTTGAAAGGATCAGC -3'
Sequencing Primer
(F):5'- AGGAAAACCTCTCCTTGTGCCC -3'
(R):5'- TTAGACAATACTGCCTGGGC -3'
|
Posted On |
2015-06-10 |