Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Pdss2'

220650

Institutional Source

Beutler Lab

Gene Symbol

Pdss2

Ensembl Gene

ENSMUSG00000038240

Gene Name

prenyl (solanesyl) diphosphate synthase, subunit 2

Synonyms

5430420P03Rik, kd, PLMP, mDLP1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43097482-43340878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43269871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 238 (N238I)

Ref Sequence

ENSEMBL: ENSMUSP00000124046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095725] [ENSMUST00000159139] [ENSMUST00000160823]

AlphaFold

Q33DR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095725
AA Change: N238I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240
AA Change: N238I

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: N238I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240
AA Change: N238I

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

possibly damaging
Transcript: ENSMUST00000160823
AA Change: N238I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: N238I

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

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	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
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
R9529:Pdss2	UTSW	10	43,269,990 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGTTGCTAGTCCGTCCTTAC -3'
(R):5'- AATACCTTGTGACTCATGGCCATG -3'

Sequencing Primer
(F):5'- TTGTTTATTTACTACTGTGGGCTAAC -3'
(R):5'- ATGTGCTTCCCATACTGGAATG -3'

Posted On

2014-08-25