Incidental Mutation 'R5016:Pdss2'
| ID |
385583 |
| 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 |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
43097482-43340878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43098001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 82
(A82S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095725]
[ENSMUST00000159139]
[ENSMUST00000160823]
|
| AlphaFold |
Q33DR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095725
AA Change: A82S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240
AA Change: A82S
| 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: A82S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240
AA Change: A82S
| 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 |
noncoding transcript
Transcript: ENSMUST00000160108
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160823
AA Change: A82S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: A82S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162758
|
| Meta Mutation Damage Score |
0.3124 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
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 |
|
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 |
|
R8227:Pdss2
|
UTSW |
10 |
43,221,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TACTTCAGATCCCTCGACAGC -3'
(R):5'- AGCCATGAAGCATCTGCATC -3'
Sequencing Primer
(F):5'- TCGACAGCATCTCCTCGG -3'
(R):5'- TTACGAAAACCATTTATCCTGGGCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation