Incidental Mutation 'R9529:Pdss2'
ID |
719399 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9529 (G1)
|
Quality Score |
198.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
43097482-43340878 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43269990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 278
(V278I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095725]
[ENSMUST00000159139]
[ENSMUST00000160823]
|
AlphaFold |
Q33DR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095725
AA Change: V278I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000093393 Gene: ENSMUSG00000038240 AA Change: V278I
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 benign
Transcript: ENSMUST00000159139
AA Change: V278I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124864 Gene: ENSMUSG00000038240 AA Change: V278I
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: ENSMUST00000160823
AA Change: V278I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124046 Gene: ENSMUSG00000038240 AA Change: V278I
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 |
|
SMART Domains |
Protein: ENSMUSP00000124440 Gene: ENSMUSG00000038240 AA Change: V25I
Domain | Start | End | E-Value | Type |
SCOP:d1uby__
|
9 |
136 |
1e-16 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
C |
5: 113,331,682 (GRCm39) |
L844R |
possibly damaging |
Het |
Aadacl4fm2 |
A |
G |
4: 144,282,082 (GRCm39) |
Y237H |
probably benign |
Het |
Abca8a |
A |
T |
11: 109,947,167 (GRCm39) |
Y1036* |
probably null |
Het |
Abcg3 |
T |
C |
5: 105,121,973 (GRCm39) |
T135A |
probably damaging |
Het |
Arhgef28 |
G |
A |
13: 98,213,773 (GRCm39) |
A30V |
probably damaging |
Het |
Cald1 |
T |
A |
6: 34,662,947 (GRCm39) |
D3E |
probably damaging |
Het |
Ccdc89 |
T |
A |
7: 90,076,573 (GRCm39) |
L261Q |
probably damaging |
Het |
Ceacam1 |
T |
C |
7: 25,171,231 (GRCm39) |
D411G |
possibly damaging |
Het |
Chil4 |
T |
A |
3: 106,118,656 (GRCm39) |
N87Y |
probably damaging |
Het |
Ciita |
T |
A |
16: 10,328,640 (GRCm39) |
L308Q |
probably benign |
Het |
Clptm1 |
T |
C |
7: 19,371,600 (GRCm39) |
I278V |
probably benign |
Het |
Col5a3 |
A |
T |
9: 20,685,308 (GRCm39) |
|
probably null |
Het |
Ddost |
T |
A |
4: 138,038,780 (GRCm39) |
D336E |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,561,495 (GRCm39) |
Y2054C |
probably damaging |
Het |
Erc2 |
T |
A |
14: 28,197,723 (GRCm39) |
L1000H |
unknown |
Het |
Fhip2b |
T |
C |
14: 70,822,579 (GRCm39) |
E714G |
probably damaging |
Het |
Gdpd4 |
T |
C |
7: 97,610,793 (GRCm39) |
V71A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,545,175 (GRCm39) |
Y2811H |
probably damaging |
Het |
Hmox2 |
C |
T |
16: 4,582,818 (GRCm39) |
Q184* |
probably null |
Het |
Igkv9-124 |
G |
T |
6: 67,919,280 (GRCm39) |
T44N |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,737,649 (GRCm39) |
T5149I |
unknown |
Het |
Lamb2 |
T |
A |
9: 108,363,477 (GRCm39) |
D885E |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,407,680 (GRCm39) |
S220P |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,287,453 (GRCm39) |
T211S |
possibly damaging |
Het |
Mup13 |
A |
T |
4: 61,184,117 (GRCm39) |
C15S |
possibly damaging |
Het |
Myh3 |
T |
C |
11: 66,979,556 (GRCm39) |
|
probably null |
Het |
Nek10 |
A |
G |
14: 14,850,833 (GRCm38) |
I293V |
probably benign |
Het |
Or10d3 |
G |
A |
9: 39,461,723 (GRCm39) |
T148I |
probably benign |
Het |
Or2a52 |
T |
A |
6: 43,144,432 (GRCm39) |
S147T |
possibly damaging |
Het |
Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
Prex1 |
T |
C |
2: 166,431,518 (GRCm39) |
K748R |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,174,519 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
G |
A |
11: 33,424,826 (GRCm39) |
S510L |
unknown |
Het |
Rp1 |
T |
A |
1: 4,416,447 (GRCm39) |
H1555L |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,799,535 (GRCm39) |
K389E |
probably benign |
Het |
Ryk |
T |
C |
9: 102,746,518 (GRCm39) |
V151A |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,465,660 (GRCm39) |
N4838I |
possibly damaging |
Het |
Sbno1 |
G |
A |
5: 124,517,413 (GRCm39) |
R1233* |
probably null |
Het |
Scn2a |
A |
T |
2: 65,594,932 (GRCm39) |
K1927M |
probably damaging |
Het |
Sec22c |
A |
T |
9: 121,513,860 (GRCm39) |
I259N |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,240,583 (GRCm39) |
D402V |
probably benign |
Het |
Stk38 |
G |
A |
17: 29,207,210 (GRCm39) |
T111I |
probably damaging |
Het |
Tmem237 |
G |
A |
1: 59,147,215 (GRCm39) |
T306I |
probably damaging |
Het |
Tmprss11a |
T |
C |
5: 86,576,501 (GRCm39) |
K117E |
probably benign |
Het |
Tmprss9 |
A |
T |
10: 80,730,640 (GRCm39) |
D722V |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,592,250 (GRCm39) |
Y575C |
probably damaging |
Het |
Ube2d2b |
A |
G |
5: 107,978,438 (GRCm39) |
M30V |
probably benign |
Het |
Usp36 |
A |
T |
11: 118,159,461 (GRCm39) |
L661* |
probably null |
Het |
Vmn2r13 |
G |
T |
5: 109,304,064 (GRCm39) |
T789N |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,400,018 (GRCm39) |
T550A |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,355,540 (GRCm39) |
S3434P |
possibly damaging |
Het |
Zfp106 |
A |
G |
2: 120,351,007 (GRCm39) |
V1571A |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,213,501 (GRCm39) |
S486P |
possibly damaging |
Het |
Zfp616 |
A |
G |
11: 73,975,660 (GRCm39) |
H643R |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,976,596 (GRCm39) |
K955R |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAGTGTTGCTAGTCCGTC -3'
(R):5'- TCCGACTGACATATTTCACTCACAC -3'
Sequencing Primer
(F):5'- GGGATTGCAACTGTATTCCACCAG -3'
(R):5'- TTCAGGATGCAGAAGGCA -3'
|
Posted On |
2022-07-18 |