Incidental Mutation 'R3961:Pdcl'
| ID |
312074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcl
|
| Ensembl Gene |
ENSMUSG00000009030 |
| Gene Name |
phosducin-like |
| Synonyms |
1200011E13Rik, PhLP1 |
| MMRRC Submission |
040836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R3961 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37240086-37249344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37242199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 184
(M184V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009174]
[ENSMUST00000112940]
[ENSMUST00000138314]
[ENSMUST00000147703]
|
| AlphaFold |
Q9DBX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009174
AA Change: M184V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000009174
Gene: ENSMUSG00000009030
AA Change: M184V
| 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: ENSMUST00000112940
AA Change: M184V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108562
Gene: ENSMUSG00000009030
AA Change: M184V
| 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
AA Change: M184V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000119372
Gene: ENSMUSG00000009030
AA Change: M184V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
Pfam:Phosducin
|
35 |
193 |
6.8e-90 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
| Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
| Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
| Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
| Pramel12 |
T |
A |
4: 143,145,888 (GRCm39) |
N452K |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
| Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,174 (GRCm39) |
V131A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpte |
A |
G |
8: 22,849,431 (GRCm39) |
S553G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
probably damaging |
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 |
|
R4010:Pdcl
|
UTSW |
2 |
37,242,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCTTGTAGATGAGCAGAGC -3'
(R):5'- GATCAAATGTGTTCTTTGCCTGTC -3'
Sequencing Primer
(F):5'- CCTTGTAGATGAGCAGAGCAGGAAG -3'
(R):5'- TTCATGCAGATGACTCTAAAGGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation