Mutagenetix > Incidental Mutation

Incidental Mutation 'R1321:Dolpp1'

157669

Institutional Source

Beutler Lab

Gene Symbol

Dolpp1

Ensembl Gene

ENSMUSG00000026856

Gene Name

dolichyl pyrophosphate phosphatase 1

Synonyms

0610011H20Rik, LSFR2

MMRRC Submission

039387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30282266-30290541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30285748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 49 (I49V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028209] [ENSMUST00000102855] [ENSMUST00000113612] [ENSMUST00000123202]

AlphaFold

Q9JMF7

Predicted Effect

probably benign
Transcript: ENSMUST00000028209
AA Change: I52V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
AA Change: I52V

Domain	Start	End	E-Value	Type
acidPPc	59	180	1.31e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102855

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	35	615	2.4e-195	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856
AA Change: I52V

Domain	Start	End	E-Value	Type
Pfam:PAP2	58	165	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123202

SMART Domains

Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
Pfam:PAP2	1	90	8.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133991

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137248
AA Change: I51V

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856
AA Change: I51V

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
low complexity region	71	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146603

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155196
AA Change: I49V

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856
AA Change: I49V

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
low complexity region	69	88	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156984

Meta Mutation Damage Score

0.0798

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,945,318 (GRCm39)		probably benign	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
C2cd2l	A	G	9: 44,228,878 (GRCm39)		probably null	Het
Cass4	T	A	2: 172,266,572 (GRCm39)	L205Q	probably benign	Het
Ccn3	G	T	15: 54,612,642 (GRCm39)	C217F	probably damaging	Het
Celsr3	G	A	9: 108,713,069 (GRCm39)	D1834N	probably damaging	Het
Col12a1	A	T	9: 79,524,991 (GRCm39)	C2723*	probably null	Het
Cps1	A	G	1: 67,182,178 (GRCm39)		probably benign	Het
Dppa2	A	G	16: 48,131,999 (GRCm39)	E32G	possibly damaging	Het
Eif2b5	C	T	16: 20,323,439 (GRCm39)	R397*	probably null	Het
Far2	G	T	6: 148,075,034 (GRCm39)		probably benign	Het
Fbxo42	C	T	4: 140,895,160 (GRCm39)	T41I	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Galnt13	G	A	2: 54,988,606 (GRCm39)	R476Q	probably damaging	Het
Galnt18	A	T	7: 111,378,639 (GRCm39)	V39E	probably benign	Het
Gm10801	C	T	2: 98,494,252 (GRCm39)		probably benign	Het
Gm21954	C	T	3: 55,379,627 (GRCm39)		probably benign	Het
Lct	A	C	1: 128,227,759 (GRCm39)	L1245V	probably benign	Het
Lgr5	T	C	10: 115,314,362 (GRCm39)	T192A	probably damaging	Het
Mrpl42	C	T	10: 95,329,573 (GRCm39)	V46M	probably damaging	Het
Mybpc1	C	T	10: 88,365,403 (GRCm39)	V907M	possibly damaging	Het
Mybpc1	T	A	10: 88,406,463 (GRCm39)	Y127F	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Otud4	T	C	8: 80,396,579 (GRCm39)	S613P	probably benign	Het
P2ry12	T	C	3: 59,124,646 (GRCm39)	E343G	possibly damaging	Het
Pbrm1	A	C	14: 30,789,459 (GRCm39)	K670T	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Reg3b	A	G	6: 78,349,936 (GRCm39)		probably null	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Ssr2	T	C	3: 88,484,261 (GRCm39)		probably benign	Het
Syne3	A	C	12: 104,942,055 (GRCm39)	V29G	probably benign	Het
Ubr4	T	C	4: 139,187,434 (GRCm39)	V3834A	possibly damaging	Het
Vmn2r112	C	T	17: 22,837,500 (GRCm39)	Q654*	probably null	Het
Vmn2r14	C	T	5: 109,364,117 (GRCm39)	V600I	probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het

Other mutations in Dolpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Dolpp1	APN	2	30,287,107 (GRCm39)	missense	probably damaging	1.00
IGL02896:Dolpp1	APN	2	30,286,242 (GRCm39)	missense	probably damaging	0.99
R2032:Dolpp1	UTSW	2	30,282,453 (GRCm39)	missense	probably damaging	1.00
R3722:Dolpp1	UTSW	2	30,287,500 (GRCm39)	missense	probably damaging	0.98
R4407:Dolpp1	UTSW	2	30,286,464 (GRCm39)	missense	possibly damaging	0.91
R5417:Dolpp1	UTSW	2	30,286,249 (GRCm39)	missense	probably damaging	1.00
R5895:Dolpp1	UTSW	2	30,285,658 (GRCm39)	splice site	probably benign
R6270:Dolpp1	UTSW	2	30,282,281 (GRCm39)	unclassified	probably benign
R7818:Dolpp1	UTSW	2	30,286,503 (GRCm39)	missense	probably benign	0.24
R8108:Dolpp1	UTSW	2	30,286,258 (GRCm39)	missense	probably benign	0.13
R9105:Dolpp1	UTSW	2	30,289,152 (GRCm39)	critical splice acceptor site	probably null
R9333:Dolpp1	UTSW	2	30,287,140 (GRCm39)	missense	probably damaging	1.00
R9544:Dolpp1	UTSW	2	30,282,515 (GRCm39)	missense	probably damaging	1.00
R9588:Dolpp1	UTSW	2	30,282,515 (GRCm39)	missense	probably damaging	1.00
R9684:Dolpp1	UTSW	2	30,285,748 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GTTGACTTTCAAGGGGCTGAGAGC -3'
(R):5'- ACAAACAGGGCATCATGGCAGATAC -3'

Sequencing Primer
(F):5'- GCTGAGAGCCCTTTTCTGAC -3'
(R):5'- TCATGGCAGATACAGGCTTC -3'

Posted On

2014-02-18