Incidental Mutation 'R5449:Pdc'
| ID |
429202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdc
|
| Ensembl Gene |
ENSMUSG00000006007 |
| Gene Name |
phosducin |
| Synonyms |
Pdc, Rpr1, Rpr-1 |
| MMRRC Submission |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
150195168-150209657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 150209190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 224
(L224F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165062]
[ENSMUST00000185698]
[ENSMUST00000186572]
[ENSMUST00000191228]
|
| AlphaFold |
Q9QW08 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165062
AA Change: L224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: L224F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
1 |
244 |
6.4e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185698
|
| SMART Domains |
Protein: ENSMUSP00000140669
Gene: ENSMUSG00000006007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
1 |
79 |
2.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186572
|
| SMART Domains |
Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
1 |
185 |
1.6e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191228
AA Change: L224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: L224F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
1 |
244 |
6.4e-130 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal retinal morphology and rod function with reduced transducin (Gnat1) translocation. Mice homozygous for a different knock-out allele exhibit large pupils, increased blood pressure, age-related vascular smooth muscle hypertrophy, and stress-induced hypertension. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
probably damaging |
Het |
|
| Other mutations in Pdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Pdc
|
APN |
1 |
150,209,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02537:Pdc
|
APN |
1 |
150,208,760 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0349:Pdc
|
UTSW |
1 |
150,209,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0502:Pdc
|
UTSW |
1 |
150,204,165 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Pdc
|
UTSW |
1 |
150,208,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pdc
|
UTSW |
1 |
150,208,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Pdc
|
UTSW |
1 |
150,209,105 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5766:Pdc
|
UTSW |
1 |
150,209,251 (GRCm39) |
makesense |
probably null |
|
|
R6020:Pdc
|
UTSW |
1 |
150,209,117 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6181:Pdc
|
UTSW |
1 |
150,209,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Pdc
|
UTSW |
1 |
150,209,123 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6660:Pdc
|
UTSW |
1 |
150,209,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Pdc
|
UTSW |
1 |
150,208,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Pdc
|
UTSW |
1 |
150,208,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Pdc
|
UTSW |
1 |
150,206,534 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7820:Pdc
|
UTSW |
1 |
150,209,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Pdc
|
UTSW |
1 |
150,208,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Pdc
|
UTSW |
1 |
150,208,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCGTGCCTTGCAGTAG -3'
(R):5'- CCCGAGTTTAAATAGCCAGGCC -3'
Sequencing Primer
(F):5'- CTTGCAGTAGAGTACCCAATGGTC -3'
(R):5'- CTGACATGGTGAAGGCTT -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation