Incidental Mutation 'R2373:Dpm2'
ID 248193
Institutional Source Beutler Lab
Gene Symbol Dpm2
Ensembl Gene ENSMUSG00000026810
Gene Name dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2373 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32460870-32463583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32462457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 81 (F81S)
Ref Sequence ENSEMBL: ENSMUSP00000124665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]
AlphaFold Q9Z324
Predicted Effect probably benign
Transcript: ENSMUST00000028151
SMART Domains Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 80 4.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048375
SMART Domains Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100188
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000140592
AA Change: F81S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810
AA Change: F81S

DomainStartEndE-ValueType
Pfam:DPM2 5 68 3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136816
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9130023H24Rik A T 7: 127,836,487 (GRCm39) D35E probably benign Het
9330159F19Rik A G 10: 29,101,039 (GRCm39) N471D probably benign Het
Ahctf1 A T 1: 179,623,361 (GRCm39) F86I probably damaging Het
Alpk1 T C 3: 127,473,457 (GRCm39) T849A probably benign Het
Arfgef1 A T 1: 10,244,367 (GRCm39) D965E probably damaging Het
Asxl1 A G 2: 153,243,820 (GRCm39) T1458A probably benign Het
Cdc42bpa A T 1: 179,939,349 (GRCm39) M876L possibly damaging Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Col12a1 A T 9: 79,564,095 (GRCm39) V1710E probably benign Het
Corin G A 5: 72,496,381 (GRCm39) S524L probably damaging Het
Dennd2c A G 3: 103,064,158 (GRCm39) H658R probably damaging Het
Disp3 A G 4: 148,343,252 (GRCm39) V553A probably damaging Het
Emc2 T A 15: 43,377,154 (GRCm39) I239N probably damaging Het
Fhip1a C T 3: 85,583,404 (GRCm39) W464* probably null Het
Fzd5 C T 1: 64,774,066 (GRCm39) G565D probably damaging Het
Gpld1 T C 13: 25,146,839 (GRCm39) F267S probably benign Het
Kif14 C A 1: 136,407,583 (GRCm39) A46E probably damaging Het
Mta3 G T 17: 84,091,730 (GRCm39) E179* probably null Het
Ninl T G 2: 150,822,037 (GRCm39) T22P probably damaging Het
Pcnx2 T C 8: 126,480,190 (GRCm39) N2039S probably damaging Het
Rc3h2 A G 2: 37,269,013 (GRCm39) S818P possibly damaging Het
Scn11a T A 9: 119,642,252 (GRCm39) E162D probably benign Het
Slc5a7 A T 17: 54,584,154 (GRCm39) W379R probably damaging Het
Sptb C T 12: 76,667,935 (GRCm39) V721M probably damaging Het
Vmn1r82 T A 7: 12,038,982 (GRCm39) V85E probably damaging Het
Vmn2r130 T C 17: 23,280,480 (GRCm39) I47T possibly damaging Het
Vmn2r93 T A 17: 18,518,665 (GRCm39) F41L probably benign Het
Other mutations in Dpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0537:Dpm2 UTSW 2 32,462,961 (GRCm39) splice site probably null
R3877:Dpm2 UTSW 2 32,462,412 (GRCm39) critical splice donor site probably null
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'- AGTACTCACCAGAGCTCTTGCC -3'
(R):5'- AGATGCCAGGGTGACTTGAG -3'

Sequencing Primer
(F):5'- CAGAGCTCTTGCCCTTGGTG -3'
(R):5'- TGACTTGAGGCAGGAACATTG -3'
Posted On 2014-11-11