Incidental Mutation 'IGL00509:Pdcl2'
| ID |
5607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdcl2
|
| Ensembl Gene |
ENSMUSG00000029235 |
| Gene Name |
phosducin-like 2 |
| Synonyms |
1700016K07Rik, 1700010B22Rik, Mgcphlp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76459963-76479003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76472959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 3
(D3V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031145]
[ENSMUST00000122213]
|
| AlphaFold |
Q78Y63 |
| PDB Structure |
Solution structure of the Thioredoxin-like domain of Phosducin-like protein 2(PDCL2) [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031145
AA Change: D3V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031145
Gene: ENSMUSG00000029235
AA Change: D3V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
8 |
208 |
3.8e-20 |
PFAM |
|
low complexity region
|
229 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122213
|
| SMART Domains |
Protein: ENSMUSP00000113699
Gene: ENSMUSG00000029235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
1 |
178 |
2.3e-19 |
PFAM |
|
low complexity region
|
181 |
188 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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 phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
| Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Pdcl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Pdcl2
|
APN |
5 |
76,467,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02310:Pdcl2
|
APN |
5 |
76,465,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02332:Pdcl2
|
APN |
5 |
76,466,982 (GRCm39) |
nonsense |
probably null |
|
|
IGL02562:Pdcl2
|
APN |
5 |
76,467,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Pdcl2
|
UTSW |
5 |
76,460,344 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0606:Pdcl2
|
UTSW |
5 |
76,460,328 (GRCm39) |
missense |
probably benign |
|
|
R2070:Pdcl2
|
UTSW |
5 |
76,472,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6384:Pdcl2
|
UTSW |
5 |
76,478,855 (GRCm39) |
splice site |
probably null |
|
|
R7055:Pdcl2
|
UTSW |
5 |
76,465,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7414:Pdcl2
|
UTSW |
5 |
76,460,359 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7638:Pdcl2
|
UTSW |
5 |
76,465,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Pdcl2
|
UTSW |
5 |
76,465,770 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7718:Pdcl2
|
UTSW |
5 |
76,465,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Pdcl2
|
UTSW |
5 |
76,465,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Pdcl2
|
UTSW |
5 |
76,472,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Pdcl2
|
UTSW |
5 |
76,465,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pdcl2
|
UTSW |
5 |
76,465,779 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2012-04-20 |
Incidental Mutation