Incidental Mutation 'R8497:Pdss2'
ID |
658325 |
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 |
067939-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8497 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
43097482-43340878 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43289521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 342
(K342T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095725]
[ENSMUST00000159139]
|
AlphaFold |
Q33DR3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095725
AA Change: K342T
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093393 Gene: ENSMUSG00000038240 AA Change: K342T
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 |
possibly damaging
Transcript: ENSMUST00000159139
AA Change: K342T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124864 Gene: ENSMUSG00000038240 AA Change: K342T
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 benign
Transcript: ENSMUST00000162008
|
SMART Domains |
Protein: ENSMUSP00000124440 Gene: ENSMUSG00000038240
Domain | Start | End | E-Value | Type |
SCOP:d1uby__
|
9 |
136 |
1e-16 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,923,250 (GRCm39) |
H509Y |
probably benign |
Het |
Afm |
A |
T |
5: 90,699,202 (GRCm39) |
|
probably null |
Het |
Apc |
G |
A |
18: 34,446,083 (GRCm39) |
C975Y |
possibly damaging |
Het |
Ash1l |
G |
T |
3: 88,914,951 (GRCm39) |
M1860I |
probably benign |
Het |
Bdkrb1 |
C |
T |
12: 105,570,463 (GRCm39) |
Q10* |
probably null |
Het |
Bphl |
A |
G |
13: 34,221,706 (GRCm39) |
K21E |
possibly damaging |
Het |
Cadps2 |
T |
C |
6: 23,355,918 (GRCm39) |
N837D |
probably benign |
Het |
Cat |
C |
G |
2: 103,287,221 (GRCm39) |
A470P |
probably damaging |
Het |
Cdc34 |
G |
T |
10: 79,520,845 (GRCm39) |
D11Y |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,387,320 (GRCm39) |
E1936G |
probably damaging |
Het |
Cnot6 |
A |
T |
11: 49,566,191 (GRCm39) |
N501K |
possibly damaging |
Het |
Cyth3 |
A |
C |
5: 143,678,328 (GRCm39) |
D44A |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,408,168 (GRCm39) |
G1888D |
probably damaging |
Het |
Ffar1 |
T |
G |
7: 30,560,334 (GRCm39) |
I188L |
probably benign |
Het |
Fhip1b |
G |
T |
7: 105,030,396 (GRCm39) |
D820E |
probably damaging |
Het |
Gpr17 |
A |
G |
18: 32,080,173 (GRCm39) |
Y297H |
probably damaging |
Het |
H2-M10.5 |
A |
C |
17: 37,084,729 (GRCm39) |
E151A |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,455,990 (GRCm39) |
R5310K |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,313,357 (GRCm39) |
L3522P |
possibly damaging |
Het |
Hs2st1 |
T |
G |
3: 144,140,452 (GRCm39) |
T290P |
probably damaging |
Het |
Il5ra |
G |
A |
6: 106,715,066 (GRCm39) |
L231F |
probably benign |
Het |
Itgav |
T |
A |
2: 83,615,805 (GRCm39) |
C529S |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,875,179 (GRCm39) |
R376S |
probably benign |
Het |
Lrrcc1 |
A |
G |
3: 14,605,044 (GRCm39) |
D138G |
possibly damaging |
Het |
Mat1a |
C |
T |
14: 40,843,851 (GRCm39) |
R357W |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mtss2 |
T |
C |
8: 111,465,222 (GRCm39) |
V492A |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,752,771 (GRCm39) |
V330A |
probably damaging |
Het |
Neu3 |
A |
T |
7: 99,472,342 (GRCm39) |
|
probably null |
Het |
Nfx1 |
A |
G |
4: 40,976,968 (GRCm39) |
D214G |
possibly damaging |
Het |
Or2a14 |
T |
C |
6: 43,130,818 (GRCm39) |
L193P |
probably damaging |
Het |
Or2y17 |
G |
A |
11: 49,231,721 (GRCm39) |
D121N |
probably damaging |
Het |
Or4f14 |
T |
A |
2: 111,742,964 (GRCm39) |
I104F |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,707 (GRCm39) |
T102A |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,582,349 (GRCm39) |
H485L |
probably benign |
Het |
Ppargc1a |
A |
G |
5: 51,647,570 (GRCm39) |
S254P |
probably damaging |
Het |
Prelid1 |
A |
G |
13: 55,470,833 (GRCm39) |
D87G |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,709 (GRCm39) |
C190F |
probably damaging |
Het |
Psmb5 |
A |
G |
14: 54,851,837 (GRCm39) |
S116P |
possibly damaging |
Het |
Rassf6 |
A |
G |
5: 90,779,391 (GRCm39) |
V14A |
possibly damaging |
Het |
Ripk1 |
T |
C |
13: 34,211,934 (GRCm39) |
S415P |
probably damaging |
Het |
Rnft1 |
A |
T |
11: 86,386,132 (GRCm39) |
K344* |
probably null |
Het |
Sacs |
G |
A |
14: 61,429,702 (GRCm39) |
R587Q |
probably benign |
Het |
Skp2 |
A |
T |
15: 9,127,971 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
C |
13: 59,848,988 (GRCm39) |
K1047E |
possibly damaging |
Het |
Spopfm2 |
T |
A |
3: 94,083,119 (GRCm39) |
I231F |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,245,518 (GRCm39) |
T1098I |
possibly damaging |
Het |
Tcf20 |
A |
G |
15: 82,740,152 (GRCm39) |
M433T |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
Utp23 |
C |
T |
15: 51,745,614 (GRCm39) |
T144I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,455,134 (GRCm39) |
M1V |
probably null |
Het |
Wdfy4 |
C |
T |
14: 32,688,356 (GRCm39) |
V2926M |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,578,021 (GRCm39) |
K1031E |
probably damaging |
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 |
R8227:Pdss2
|
UTSW |
10 |
43,221,577 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTACATTTGTGTCGGGGAG -3'
(R):5'- CTACCTGCTAATGACAATCTTTCAGC -3'
Sequencing Primer
(F):5'- ACCTACAGTTCCAGGTGATTG -3'
(R):5'- TGCACTATGTATGCAAGGCC -3'
|
Posted On |
2021-01-18 |