Incidental Mutation 'R8227:Pdss2'
| ID |
637028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdss2
|
| Ensembl Gene |
ENSMUSG00000038240 |
| Gene Name |
prenyl (solanesyl) diphosphate synthase, subunit 2 |
| Synonyms |
5430420P03Rik, kd, PLMP, mDLP1 |
| MMRRC Submission |
067644-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
43097482-43340878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43221577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 163
(H163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095725]
[ENSMUST00000159139]
[ENSMUST00000160823]
|
| AlphaFold |
Q33DR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095725
AA Change: H163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240
AA Change: H163L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
106 |
324 |
9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159139
AA Change: H163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240
AA Change: H163L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
103 |
323 |
7.9e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160823
AA Change: H163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: H163L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
103 |
319 |
7.4e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mutations in this gene result in renal abnormalities leading to early death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
C |
A |
7: 28,316,073 (GRCm39) |
S171I |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,023,647 (GRCm39) |
E227G |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,222,663 (GRCm39) |
V1087A |
|
Het |
| Csnk1g2 |
G |
A |
10: 80,474,463 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
G |
8: 37,039,825 (GRCm39) |
L994S |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,792,869 (GRCm39) |
S19P |
probably benign |
Het |
| Foxr1 |
T |
C |
9: 44,347,304 (GRCm39) |
S78G |
probably benign |
Het |
| Gm1968 |
T |
A |
16: 29,777,380 (GRCm39) |
K93N |
noncoding transcript |
Het |
| Gm4781 |
G |
A |
10: 100,232,424 (GRCm39) |
P171S |
noncoding transcript |
Het |
| Gm7276 |
T |
A |
18: 77,273,158 (GRCm39) |
Q192L |
unknown |
Het |
| Greb1l |
T |
A |
18: 10,515,371 (GRCm39) |
L721H |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,620,242 (GRCm39) |
D334G |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,099,500 (GRCm39) |
S1491L |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,628,559 (GRCm39) |
S555P |
probably damaging |
Het |
| Mup14 |
C |
T |
4: 61,258,494 (GRCm39) |
E97K |
probably benign |
Het |
| Rps16 |
T |
A |
7: 28,051,926 (GRCm39) |
D101E |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,179,831 (GRCm39) |
V108A |
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,263,361 (GRCm39) |
K727R |
probably benign |
Het |
| Snx6 |
A |
T |
12: 54,798,756 (GRCm39) |
F351I |
possibly damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
A |
17: 72,021,237 (GRCm39) |
Y675* |
probably null |
Het |
|
| Other mutations in Pdss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02346:Pdss2
|
APN |
10 |
43,221,639 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03337:Pdss2
|
APN |
10 |
43,221,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03340:Pdss2
|
APN |
10 |
43,269,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
whup
|
UTSW |
10 |
43,269,945 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0277:Pdss2
|
UTSW |
10 |
43,248,172 (GRCm39) |
missense |
probably benign |
|
|
R0323:Pdss2
|
UTSW |
10 |
43,248,172 (GRCm39) |
missense |
probably benign |
|
|
R0324:Pdss2
|
UTSW |
10 |
43,269,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Pdss2
|
UTSW |
10 |
43,097,927 (GRCm39) |
small deletion |
probably benign |
|
|
R0654:Pdss2
|
UTSW |
10 |
43,097,927 (GRCm39) |
small deletion |
probably benign |
|
|
R1472:Pdss2
|
UTSW |
10 |
43,289,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:Pdss2
|
UTSW |
10 |
43,221,601 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2024:Pdss2
|
UTSW |
10 |
43,269,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2025:Pdss2
|
UTSW |
10 |
43,269,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2026:Pdss2
|
UTSW |
10 |
43,269,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4077:Pdss2
|
UTSW |
10 |
43,278,518 (GRCm39) |
missense |
probably benign |
|
|
R4079:Pdss2
|
UTSW |
10 |
43,278,518 (GRCm39) |
missense |
probably benign |
|
|
R4292:Pdss2
|
UTSW |
10 |
43,097,834 (GRCm39) |
missense |
probably benign |
|
|
R4518:Pdss2
|
UTSW |
10 |
43,248,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4603:Pdss2
|
UTSW |
10 |
43,248,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4962:Pdss2
|
UTSW |
10 |
43,174,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5016:Pdss2
|
UTSW |
10 |
43,098,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Pdss2
|
UTSW |
10 |
43,315,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5888:Pdss2
|
UTSW |
10 |
43,097,793 (GRCm39) |
synonymous |
silent |
|
|
R5972:Pdss2
|
UTSW |
10 |
43,174,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7246:Pdss2
|
UTSW |
10 |
43,248,172 (GRCm39) |
missense |
probably benign |
|
|
R7697:Pdss2
|
UTSW |
10 |
43,221,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Pdss2
|
UTSW |
10 |
43,340,628 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8497:Pdss2
|
UTSW |
10 |
43,289,521 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8897:Pdss2
|
UTSW |
10 |
43,221,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Pdss2
|
UTSW |
10 |
43,269,945 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9529:Pdss2
|
UTSW |
10 |
43,269,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAGAAAATGAACCCCTTCTCC -3'
(R):5'- TTCAGTGAGCATCCACATGG -3'
Sequencing Primer
(F):5'- CTCCAAAGTCACGTGTGCATG -3'
(R):5'- AGACACCTGAGGCTGTGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation