Incidental Mutation 'R8450:Pdzk1'
| ID |
654698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzk1
|
| Ensembl Gene |
ENSMUSG00000038298 |
| Gene Name |
PDZ domain containing 1 |
| Synonyms |
Nherf3, 4921513F16Rik, mPDZK1, 1700023D20Rik, 2610507N21Rik, D3Ertd537e |
| MMRRC Submission |
067830-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R8450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96736772-96778242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96759024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 143
(N143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058865]
[ENSMUST00000107069]
[ENSMUST00000107070]
[ENSMUST00000128789]
[ENSMUST00000135031]
[ENSMUST00000138014]
[ENSMUST00000153256]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058865
AA Change: N143S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: N143S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107069
AA Change: N143S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: N143S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107070
AA Change: N143S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: N143S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128789
|
| SMART Domains |
Protein: ENSMUSP00000123166
Gene: ENSMUSG00000038298
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EDZ|A
|
1 |
50 |
3e-32 |
PDB |
|
SCOP:d1qaua_
|
6 |
50 |
4e-12 |
SMART |
|
Blast:PDZ
|
18 |
50 |
7e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135031
|
| SMART Domains |
Protein: ENSMUSP00000114157
Gene: ENSMUSG00000038298
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138014
AA Change: N143S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115584
Gene: ENSMUSG00000038298
AA Change: N143S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDB:2EEI|A
|
125 |
153 |
2e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153256
AA Change: N143S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: N143S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,962 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,564,445 (GRCm39) |
L271S |
|
Het |
| Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
| Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
| Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
| Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
T |
5: 104,360,765 (GRCm39) |
K480N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
| Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
| Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
| Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
| Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
| Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
| Hsd17b4 |
T |
G |
18: 50,297,734 (GRCm39) |
L341R |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
| Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
| Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
| Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
| Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
| Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
| Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,631,871 (GRCm39) |
|
probably null |
Het |
| Wdr27 |
T |
C |
17: 15,152,787 (GRCm39) |
T107A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
Het |
|
| Other mutations in Pdzk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Pdzk1
|
APN |
3 |
96,775,742 (GRCm39) |
missense |
probably benign |
|
|
IGL01895:Pdzk1
|
APN |
3 |
96,776,417 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01995:Pdzk1
|
APN |
3 |
96,764,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02027:Pdzk1
|
APN |
3 |
96,761,989 (GRCm39) |
splice site |
probably benign |
|
|
R1762:Pdzk1
|
UTSW |
3 |
96,758,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2044:Pdzk1
|
UTSW |
3 |
96,763,164 (GRCm39) |
splice site |
probably benign |
|
|
R4721:Pdzk1
|
UTSW |
3 |
96,776,518 (GRCm39) |
nonsense |
probably null |
|
|
R4831:Pdzk1
|
UTSW |
3 |
96,775,751 (GRCm39) |
missense |
probably benign |
|
|
R5070:Pdzk1
|
UTSW |
3 |
96,757,637 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6020:Pdzk1
|
UTSW |
3 |
96,775,742 (GRCm39) |
missense |
probably benign |
|
|
R6049:Pdzk1
|
UTSW |
3 |
96,758,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6816:Pdzk1
|
UTSW |
3 |
96,761,886 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7065:Pdzk1
|
UTSW |
3 |
96,775,748 (GRCm39) |
missense |
probably benign |
|
|
R7134:Pdzk1
|
UTSW |
3 |
96,763,246 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7779:Pdzk1
|
UTSW |
3 |
96,764,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Pdzk1
|
UTSW |
3 |
96,757,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Pdzk1
|
UTSW |
3 |
96,759,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8805:Pdzk1
|
UTSW |
3 |
96,758,910 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9448:Pdzk1
|
UTSW |
3 |
96,761,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Pdzk1
|
UTSW |
3 |
96,763,174 (GRCm39) |
missense |
|
|
|
Z1088:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGAATTCAGTGACTCTGC -3'
(R):5'- ATGTGGCCAAAGTCCTGATCTC -3'
Sequencing Primer
(F):5'- GAATTCAGTGACTCTGCTGGTCC -3'
(R):5'- CTCTTTGTACAACTGCAGAGAAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation