Mutagenetix > Incidental Mutation

Incidental Mutation 'R3877:Dpm2'

276880

Institutional Source

Beutler Lab

Gene Symbol

Dpm2

Ensembl Gene

ENSMUSG00000026810

Gene Name

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

Synonyms

MMRRC Submission

040904-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32460870-32463583 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 32462412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]

AlphaFold

Q9Z324

Predicted Effect

probably null
Transcript: ENSMUST00000028151

SMART Domains

Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	80	4.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048375

SMART Domains

Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157

Domain	Start	End	E-Value	Type
Pfam:NT-C2	6	152	4.8e-32	PFAM
low complexity region	177	194	N/A	INTRINSIC
low complexity region	262	273	N/A	INTRINSIC
low complexity region	283	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055304

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854

Domain	Start	End	E-Value	Type
Pfam:PIP5K	127	393	4.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100188

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854

Domain	Start	End	E-Value	Type
Pfam:PIP5K	165	358	4.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134204

Predicted Effect

probably damaging
Transcript: ENSMUST00000140592
AA Change: G66D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810
AA Change: G66D

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	68	3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136816

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,249,671 (GRCm39)	V594I	possibly damaging	Het
Adgb	A	T	10: 10,318,227 (GRCm39)		probably null	Het
Adgrb3	A	C	1: 25,150,906 (GRCm39)	L1109R	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,717 (GRCm39)	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,239,742 (GRCm39)	T1319A	probably damaging	Het
C4bp	A	G	1: 130,575,764 (GRCm39)		probably null	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Ckap5	A	G	2: 91,445,495 (GRCm39)	K1711E	possibly damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Cplane1	T	C	15: 8,251,427 (GRCm39)	S1900P	probably benign	Het
Dnah17	T	G	11: 117,915,533 (GRCm39)	N4334T	probably damaging	Het
Eef1a2	A	T	2: 180,794,626 (GRCm39)	V191E	probably damaging	Het
Gmds	G	A	13: 32,411,248 (GRCm39)	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,630 (GRCm39)	I168F	probably damaging	Het
Idh3a	T	C	9: 54,499,679 (GRCm39)	V31A	probably benign	Het
Inf2	C	A	12: 112,577,264 (GRCm39)	A1036E	unknown	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	T	A	12: 25,051,564 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Lrp2	A	G	2: 69,289,816 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,379,391 (GRCm39)	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,255,547 (GRCm39)	E184G	probably benign	Het
Mapre1	C	T	2: 153,588,201 (GRCm39)	T8M	possibly damaging	Het
Mms19	G	A	19: 41,954,695 (GRCm39)	Q75*	probably null	Het
Mtcl1	T	C	17: 66,649,949 (GRCm39)	I1390V	probably damaging	Het
Muc5b	A	G	7: 141,411,289 (GRCm39)	S1412G	unknown	Het
Myh4	A	T	11: 67,148,009 (GRCm39)	Q1686L	probably benign	Het
Or1e25	A	T	11: 73,493,979 (GRCm39)	D191V	probably damaging	Het
Or9s13	A	T	1: 92,547,805 (GRCm39)	D59V	probably damaging	Het
Rcvrn	A	T	11: 67,590,802 (GRCm39)	I129F	probably damaging	Het
Reg3b	T	A	6: 78,348,216 (GRCm39)	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,850,529 (GRCm39)	E918V	probably damaging	Het
Rpl5	A	G	5: 108,051,667 (GRCm39)	T154A	probably benign	Het
Sall4	A	C	2: 168,598,162 (GRCm39)	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,297,618 (GRCm39)	S199P	possibly damaging	Het
Shank1	G	T	7: 43,994,416 (GRCm39)	R859L	unknown	Het
Thsd7b	A	G	1: 130,117,919 (GRCm39)	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 51,942,339 (GRCm39)	E216G	probably benign	Het
Tram1	T	C	1: 13,639,827 (GRCm39)	T307A	probably benign	Het
Trpv5	A	G	6: 41,637,277 (GRCm39)	V354A	probably benign	Het
Tyro3	A	G	2: 119,643,774 (GRCm39)	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,408 (GRCm39)	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,491,357 (GRCm39)	W297R	probably damaging	Het
Vrk3	A	T	7: 44,412,460 (GRCm39)		probably null	Het
Zfhx4	T	C	3: 5,465,845 (GRCm39)	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Dpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0537:Dpm2	UTSW	2	32,462,961 (GRCm39)	splice site	probably null
R2373:Dpm2	UTSW	2	32,462,457 (GRCm39)	missense	probably benign	0.00
R4682:Dpm2	UTSW	2	32,462,290 (GRCm39)	intron	probably benign
R4872:Dpm2	UTSW	2	32,461,203 (GRCm39)	splice site	probably benign
R7530:Dpm2	UTSW	2	32,462,313 (GRCm39)	missense	probably damaging	1.00
R9086:Dpm2	UTSW	2	32,462,391 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATATCCACGCTTGGGGATG -3'
(R):5'- CCAGGAACCTGAAAACTGGG -3'

Sequencing Primer
(F):5'- TATCAAGGTGGGCCCTCAGTATC -3'
(R):5'- GAACACCACTAGAGGAGCTTCTG -3'

Posted On

2015-04-06