Incidental Mutation 'R0019:Pdcl'
| ID |
201342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcl
|
| Ensembl Gene |
ENSMUSG00000009030 |
| Gene Name |
phosducin-like |
| Synonyms |
1200011E13Rik, PhLP1 |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37240086-37249344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37241932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 273
(L273M)
|
| 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: L273M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009174
Gene: ENSMUSG00000009030
AA Change: L273M
| 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: L273M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108562
Gene: ENSMUSG00000009030
AA Change: L273M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,974,287 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dhx37 |
C |
A |
5: 125,507,098 (GRCm39) |
G133C |
probably benign |
Het |
| Espl1 |
A |
C |
15: 102,214,754 (GRCm39) |
Q765P |
probably null |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,221,191 (GRCm39) |
N911Y |
possibly damaging |
Het |
| Nfatc1 |
C |
A |
18: 80,678,719 (GRCm39) |
V890L |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pycr3 |
A |
G |
15: 75,791,155 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Vinac1 |
G |
T |
2: 128,880,946 (GRCm39) |
H327N |
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp560 |
G |
A |
9: 20,259,656 (GRCm39) |
S402L |
probably benign |
Het |
| Zfp943 |
C |
T |
17: 22,211,070 (GRCm39) |
|
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 |
|
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 |
|
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'- AAGACATTGCCTGCAAGGGTGC -3'
(R):5'- CGTCAAATTCTGTCGGGTGAGGAG -3'
Sequencing Primer
(F):5'- GCTACAAAGTGAGTCAGCATTCTG -3'
(R):5'- GCGGGTGAATTGATTGGCAA -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation