Incidental Mutation 'R4010:Pdcl'
| ID |
311628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcl
|
| Ensembl Gene |
ENSMUSG00000009030 |
| Gene Name |
phosducin-like |
| Synonyms |
1200011E13Rik, PhLP1 |
| MMRRC Submission |
040947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R4010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37240086-37249344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37242123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 209
(Y209C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009174]
[ENSMUST00000112940]
[ENSMUST00000138314]
[ENSMUST00000147703]
|
| AlphaFold |
Q9DBX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009174
AA Change: Y209C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009174
Gene: ENSMUSG00000009030
AA Change: Y209C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
Pfam:Phosducin
|
35 |
299 |
8.6e-162 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112940
AA Change: Y209C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108562
Gene: ENSMUSG00000009030
AA Change: Y209C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
Pfam:Phosducin
|
35 |
299 |
8.6e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138314
|
| SMART Domains |
Protein: ENSMUSP00000145483
Gene: ENSMUSG00000009030
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147703
|
| SMART Domains |
Protein: ENSMUSP00000119372
Gene: ENSMUSG00000009030
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
Pfam:Phosducin
|
35 |
193 |
6.8e-90 |
PFAM |
|
| Meta Mutation Damage Score |
0.7723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,136 (GRCm39) |
S298P |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,303 (GRCm39) |
N1263S |
possibly damaging |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,169 (GRCm39) |
T793A |
possibly damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,407,569 (GRCm39) |
D360V |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,178 (GRCm39) |
M405L |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,327 (GRCm39) |
N585S |
probably benign |
Het |
| Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
| Ggt7 |
G |
A |
2: 155,342,652 (GRCm39) |
T358M |
probably benign |
Het |
| Gm5435 |
G |
A |
12: 82,543,089 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,936,052 (GRCm39) |
H185Y |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,002,165 (GRCm39) |
C90S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,950,131 (GRCm39) |
S1424F |
probably benign |
Het |
| Map2k2 |
T |
C |
10: 80,944,769 (GRCm39) |
S94P |
probably damaging |
Het |
| Marveld2 |
C |
A |
13: 100,747,936 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,157,884 (GRCm39) |
E636G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,382,003 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,496 (GRCm39) |
S1610R |
possibly damaging |
Het |
| Rel |
C |
T |
11: 23,711,138 (GRCm39) |
V10I |
probably benign |
Het |
| Rpa2 |
T |
A |
4: 132,497,960 (GRCm39) |
|
probably null |
Het |
| Rpain |
T |
G |
11: 70,863,833 (GRCm39) |
|
probably benign |
Het |
| Rpl35rt |
T |
C |
1: 156,193,724 (GRCm39) |
V26A |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,549 (GRCm39) |
T1237A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,910,765 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,428,263 (GRCm39) |
Q2320R |
probably null |
Het |
| Sh2d4a |
C |
T |
8: 68,787,799 (GRCm39) |
R302C |
probably damaging |
Het |
| Slc19a2 |
T |
G |
1: 164,088,451 (GRCm39) |
S300A |
probably damaging |
Het |
| Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,955,584 (GRCm39) |
I717V |
possibly damaging |
Het |
| Supt16 |
A |
C |
14: 52,401,898 (GRCm39) |
F924C |
probably damaging |
Het |
| Tekt4 |
T |
G |
17: 25,695,460 (GRCm39) |
M431R |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,526 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,672,310 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
C |
A |
6: 72,313,468 (GRCm39) |
A241S |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,450 (GRCm39) |
L18F |
possibly damaging |
Het |
| Zfp213 |
T |
C |
17: 23,777,064 (GRCm39) |
H326R |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,705,771 (GRCm39) |
I435F |
probably damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
| Other mutations in Pdcl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Pdcl
|
APN |
2 |
37,247,386 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
BB003:Pdcl
|
UTSW |
2 |
37,242,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Pdcl
|
UTSW |
2 |
37,242,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Pdcl
|
UTSW |
2 |
37,242,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Pdcl
|
UTSW |
2 |
37,242,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Pdcl
|
UTSW |
2 |
37,241,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0019:Pdcl
|
UTSW |
2 |
37,241,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0147:Pdcl
|
UTSW |
2 |
37,242,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0148:Pdcl
|
UTSW |
2 |
37,242,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Pdcl
|
UTSW |
2 |
37,242,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Pdcl
|
UTSW |
2 |
37,245,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2202:Pdcl
|
UTSW |
2 |
37,242,056 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2203:Pdcl
|
UTSW |
2 |
37,242,056 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2204:Pdcl
|
UTSW |
2 |
37,242,056 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2896:Pdcl
|
UTSW |
2 |
37,245,702 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3961:Pdcl
|
UTSW |
2 |
37,242,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4663:Pdcl
|
UTSW |
2 |
37,245,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Pdcl
|
UTSW |
2 |
37,242,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Pdcl
|
UTSW |
2 |
37,242,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Pdcl
|
UTSW |
2 |
37,242,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Pdcl
|
UTSW |
2 |
37,247,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8867:Pdcl
|
UTSW |
2 |
37,242,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Pdcl
|
UTSW |
2 |
37,242,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGATGTCAGCACCAAG -3'
(R):5'- TCATAAAGGGCCCCAATTCAAG -3'
Sequencing Primer
(F):5'- TCTGGGAGCAATCCAAATTCCTG -3'
(R):5'- GCAAGTTTTTGAAATCCCCAGTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation