Incidental Mutation 'R2896:Pdcl'
ID |
260784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdcl
|
Ensembl Gene |
ENSMUSG00000009030 |
Gene Name |
phosducin-like |
Synonyms |
1200011E13Rik, PhLP1 |
MMRRC Submission |
040484-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
R2896 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37240086-37249344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37245702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 100
(D100E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009174]
[ENSMUST00000112940]
[ENSMUST00000138314]
[ENSMUST00000147703]
|
AlphaFold |
Q9DBX2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009174
AA Change: D100E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000009174 Gene: ENSMUSG00000009030 AA Change: D100E
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
Pfam:Phosducin
|
35 |
299 |
8.6e-162 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112940
AA Change: D100E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108562 Gene: ENSMUSG00000009030 AA Change: D100E
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 |
possibly damaging
Transcript: ENSMUST00000147703
AA Change: D100E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000119372 Gene: ENSMUSG00000009030 AA Change: D100E
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 |
0.0808 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
possibly 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 |
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'- AACAACGTATAGCTGAGCTGAG -3'
(R):5'- GATGTCAGCTGGTCCAAAGC -3'
Sequencing Primer
(F):5'- TGCACCCCAAGTTATGACAGGG -3'
(R):5'- GGTCCAAAGCCCCTTGTCTG -3'
|
Posted On |
2015-01-23 |