Incidental Mutation 'R4682:Dpm2'
ID 350065
Institutional Source Beutler Lab
Gene Symbol Dpm2
Ensembl Gene ENSMUSG00000026810
Gene Name dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Synonyms
MMRRC Submission 041934-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4682 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32460870-32463583 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 32462290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: ENSMUST00000150419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136816
Predicted Effect probably benign
Transcript: ENSMUST00000140592
SMART Domains Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 68 3e-30 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (45/48)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,505,925 (GRCm39) V637A probably benign Het
Aurkc G A 7: 6,998,538 (GRCm39) V33M probably null Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dapk1 T A 13: 60,898,961 (GRCm39) S810R probably benign Het
Fgb A T 3: 82,950,572 (GRCm39) F394Y probably benign Het
Fry A G 5: 150,346,219 (GRCm39) Y1576C probably damaging Het
Gabra4 T C 5: 71,815,152 (GRCm39) M1V probably null Het
Grhl1 T G 12: 24,658,432 (GRCm39) V359G probably benign Het
Hdac5 T C 11: 102,097,456 (GRCm39) S158G probably null Het
Hdgfl1 T C 13: 26,953,230 (GRCm39) E281G possibly damaging Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Inpp1 T C 1: 52,833,760 (GRCm39) N112S probably benign Het
Itih1 C A 14: 30,659,800 (GRCm39) A279S probably damaging Het
Mad1l1 A T 5: 140,286,007 (GRCm39) M296K possibly damaging Het
Mark4 T C 7: 19,179,097 (GRCm39) probably null Het
Mrpl48 T A 7: 100,198,576 (GRCm39) D192V probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nckap5 A T 1: 126,030,279 (GRCm39) probably null Het
Nlrp4d T C 7: 10,108,879 (GRCm39) T731A noncoding transcript Het
Or4d6 T C 19: 12,086,049 (GRCm39) Y287C probably damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Plekhm3 T C 1: 64,977,086 (GRCm39) D128G possibly damaging Het
Ppp1r9a A G 6: 4,905,477 (GRCm39) T11A possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rnf138 T A 18: 21,143,791 (GRCm39) Y112N probably damaging Het
Scn9a A T 2: 66,377,362 (GRCm39) V442E probably benign Het
Slc36a4 C A 9: 15,638,144 (GRCm39) S190* probably null Het
Slc46a1 A G 11: 78,359,502 (GRCm39) K378R possibly damaging Het
Snai2 T C 16: 14,526,150 (GRCm39) V267A probably benign Het
Srrm2 T A 17: 24,034,666 (GRCm39) S533T probably benign Het
St6galnac4 T A 2: 32,484,111 (GRCm39) M103K probably damaging Het
Tap2 C A 17: 34,433,006 (GRCm39) Y429* probably null Het
Traf7 T C 17: 24,732,348 (GRCm39) K159E probably damaging Het
Zfp111 T G 7: 23,898,563 (GRCm39) K349N probably damaging Het
Zfp462 A G 4: 55,011,376 (GRCm39) Y1114C probably damaging Het
Other mutations in Dpm2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3877:Dpm2 UTSW 2 32,462,412 (GRCm39) critical splice donor site probably null
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'- AAGGCCCAGGCAGTATTCAAC -3'
(R):5'- CTTTAAGGAATAGGAAAGCCCCG -3'

Sequencing Primer
(F):5'- GGCCCAGGCAGTATTCAACAATAC -3'
(R):5'- TACAGCAGGTGCCAGCATG -3'
Posted On 2015-10-08