Incidental Mutation 'IGL00796:Pdcl2'
ID |
12951 |
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 # |
IGL00796
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
76459963-76479003 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76467022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 57
(T57I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031145]
[ENSMUST00000122213]
|
AlphaFold |
Q78Y63 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031145
AA Change: T105I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031145 Gene: ENSMUSG00000029235 AA Change: T105I
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 damaging
Transcript: ENSMUST00000122213
AA Change: T57I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113699 Gene: ENSMUSG00000029235 AA Change: T57I
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
Aspn |
A |
G |
13: 49,710,893 (GRCm39) |
I179M |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
Cacna1f |
T |
A |
X: 7,497,270 (GRCm39) |
D1594E |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,133,934 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,758,171 (GRCm39) |
D317E |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
Nars2 |
C |
A |
7: 96,680,786 (GRCm39) |
L319I |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,680,787 (GRCm39) |
L319Q |
probably benign |
Het |
Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
probably benign |
Het |
|
Other mutations in Pdcl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Pdcl2
|
APN |
5 |
76,472,959 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-12-06 |