Incidental Mutation 'R5380:Pkd2l1'
| ID |
425828 |
| 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 |
042955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5380 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44146171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 128
(Y128H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
| AlphaFold |
A2A259 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
AA Change: Y128H
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: Y128H
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
| Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
| Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
| Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
| Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
| Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
| Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,499,044 (GRCm39) |
I53F |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
| Prpf6 |
T |
A |
2: 181,250,059 (GRCm39) |
L73Q |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,321,316 (GRCm39) |
V658A |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,129,226 (GRCm39) |
T23A |
probably damaging |
Het |
| Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
| Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
| Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
| V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
A |
G |
1: 136,553,676 (GRCm39) |
K218R |
possibly 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 |
|
|
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 |
|
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 |
|
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'- TTTGCCCTGGTTCCAGACTG -3'
(R):5'- TTTCCCTAAAACATCTCCTGGAAC -3'
Sequencing Primer
(F):5'- GGTTCCAGACTGACCCTCTG -3'
(R):5'- TGGAACCCCTAGTGGTACCATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation