Incidental Mutation 'R0762:Pkd2l1'
| ID |
72484 |
| 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 |
038942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R0762 (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 44138909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 647
(D647G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
[ENSMUST00000079033]
|
| AlphaFold |
A2A259 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
AA Change: D647G
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: D647G
| 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 |
probably benign
Transcript: ENSMUST00000079033
|
| SMART Domains |
Protein: ENSMUSP00000078042
Gene: ENSMUSG00000057506
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Pfam:BLOC1_2
|
43 |
138 |
6.9e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161357
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 93.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,667 (GRCm39) |
N475I |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,647,290 (GRCm39) |
|
probably benign |
Het |
| Aldh3b3 |
A |
T |
19: 4,015,747 (GRCm39) |
|
probably null |
Het |
| Amtn |
C |
T |
5: 88,532,859 (GRCm39) |
T158I |
possibly damaging |
Het |
| Ap1g2 |
A |
G |
14: 55,337,868 (GRCm39) |
|
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,119,584 (GRCm39) |
Y318C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,641,229 (GRCm39) |
V69G |
possibly damaging |
Het |
| Bbx |
G |
A |
16: 50,045,529 (GRCm39) |
T236I |
possibly damaging |
Het |
| Bcl11b |
C |
T |
12: 107,931,922 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,889,377 (GRCm39) |
I794V |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,413,112 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
C |
A |
12: 33,110,300 (GRCm39) |
R328L |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,656,496 (GRCm39) |
M242K |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,588,656 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,686 (GRCm39) |
S39P |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,247,900 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,538,298 (GRCm39) |
Y220* |
probably null |
Het |
| Dcc |
T |
A |
18: 71,475,776 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,036 (GRCm39) |
T191A |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,339,628 (GRCm39) |
F199I |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,551,619 (GRCm39) |
K1062E |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,285 (GRCm39) |
V410A |
probably benign |
Het |
| Gars1 |
T |
G |
6: 55,054,565 (GRCm39) |
|
probably null |
Het |
| Git1 |
A |
C |
11: 77,390,660 (GRCm39) |
D132A |
possibly damaging |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,002,203 (GRCm39) |
T44A |
unknown |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,428,640 (GRCm39) |
K156E |
possibly damaging |
Het |
| Klf13 |
T |
C |
7: 63,541,371 (GRCm39) |
N15S |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,769,561 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,115,417 (GRCm39) |
S44P |
probably damaging |
Het |
| Map4 |
C |
A |
9: 109,867,546 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,139,900 (GRCm39) |
I623T |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,116,997 (GRCm39) |
T908S |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,472,876 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
G |
5: 63,957,757 (GRCm39) |
F362L |
probably benign |
Het |
| Pcm1 |
A |
T |
8: 41,714,057 (GRCm39) |
R208W |
probably damaging |
Het |
| Plbd1 |
C |
T |
6: 136,618,145 (GRCm39) |
V24M |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,625,943 (GRCm39) |
P1698S |
unknown |
Het |
| Prss12 |
T |
C |
3: 123,279,153 (GRCm39) |
I410T |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,280,964 (GRCm39) |
N565S |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,364,244 (GRCm39) |
L606P |
unknown |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Rhd |
C |
T |
4: 134,603,612 (GRCm39) |
|
probably benign |
Het |
| Rspo3 |
T |
A |
10: 29,375,917 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
A |
1: 176,773,710 (GRCm39) |
N555K |
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,722,848 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
G |
A |
19: 6,036,036 (GRCm39) |
P45S |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,654 (GRCm39) |
Y124C |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,925,043 (GRCm39) |
L127P |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,952,975 (GRCm39) |
I193N |
probably benign |
Het |
| Ten1 |
C |
T |
11: 116,107,510 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,373,398 (GRCm39) |
E100G |
probably damaging |
Het |
| Tom1 |
C |
T |
8: 75,778,934 (GRCm39) |
|
probably benign |
Het |
| Vps52 |
G |
T |
17: 34,178,985 (GRCm39) |
R171L |
probably damaging |
Het |
| Zcwpw2 |
A |
T |
9: 117,843,182 (GRCm39) |
|
noncoding transcript |
Het |
| Zfhx4 |
G |
A |
3: 5,468,880 (GRCm39) |
E3013K |
probably damaging |
Het |
| Zfp267 |
G |
A |
3: 36,220,016 (GRCm39) |
D680N |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,006,294 (GRCm39) |
V411M |
probably damaging |
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 |
|
|
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 |
|
R4180: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'- ACTCATTTGTGGGAGGACATTCAGC -3'
(R):5'- GGCATCTGGTTATTCAGGGGCAAAG -3'
Sequencing Primer
(F):5'- ACATTCAGCTTGGATTTGGC -3'
(R):5'- GATCCTGAAGTTCTAACATAGCCAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation