Incidental Mutation 'R6270:Dolpp1'
ID 507259
Institutional Source Beutler Lab
Gene Symbol Dolpp1
Ensembl Gene ENSMUSG00000026856
Gene Name dolichyl pyrophosphate phosphatase 1
Synonyms 0610011H20Rik, LSFR2
MMRRC Submission 044441-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R6270 (G1)
Quality Score 136.01
Status Not validated
Chromosome 2
Chromosomal Location 30282266-30290541 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 30282281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028209] [ENSMUST00000113612] [ENSMUST00000123202]
AlphaFold Q9JMF7
Predicted Effect probably benign
Transcript: ENSMUST00000028209
SMART Domains Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
acidPPc 59 180 1.31e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113612
SMART Domains Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
Pfam:PAP2 58 165 1.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123202
SMART Domains Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
Pfam:PAP2 1 90 8.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133991
Predicted Effect probably benign
Transcript: ENSMUST00000137248
SMART Domains Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
low complexity region 71 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151018
Predicted Effect probably benign
Transcript: ENSMUST00000155196
SMART Domains Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
low complexity region 69 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156704
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,242,933 (GRCm39) E648G probably benign Het
Ak7 A G 12: 105,734,960 (GRCm39) H642R probably benign Het
Akap11 T C 14: 78,756,239 (GRCm39) E53G probably damaging Het
Ark2n T C 18: 77,762,117 (GRCm39) D65G probably damaging Het
Ddr2 T G 1: 169,816,109 (GRCm39) T533P probably benign Het
Dhx40 A G 11: 86,690,431 (GRCm39) S197P possibly damaging Het
Eng A G 2: 32,563,655 (GRCm39) D347G probably benign Het
Esrra C T 19: 6,891,488 (GRCm39) probably null Het
Fap T C 2: 62,378,132 (GRCm39) I159V probably damaging Het
Fn1 C T 1: 71,676,434 (GRCm39) C599Y probably damaging Het
Fnbp4 T C 2: 90,587,807 (GRCm39) V395A probably damaging Het
Foxn3 T C 12: 99,354,676 (GRCm39) R163G probably damaging Het
Gphn T G 12: 78,569,724 (GRCm39) L306R probably benign Het
Gse1 T C 8: 121,295,902 (GRCm39) probably benign Het
Habp2 A G 19: 56,295,295 (GRCm39) D62G possibly damaging Het
Hdac7 AGGG AGGGG 15: 97,706,376 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Kit A G 5: 75,770,169 (GRCm39) T194A probably benign Het
Krt16 C A 11: 100,138,029 (GRCm39) A316S possibly damaging Het
Krt7 A G 15: 101,317,439 (GRCm39) D244G probably damaging Het
Lhfpl3 T A 5: 23,478,349 (GRCm39) Y77* probably null Het
Lrrc18 A T 14: 32,731,078 (GRCm39) M206L probably benign Het
Magel2 C A 7: 62,030,406 (GRCm39) C1103* probably null Het
Mcf2l T C 8: 13,068,701 (GRCm39) V1058A probably damaging Het
Nbas G A 12: 13,374,294 (GRCm39) A541T probably damaging Het
Nrap C T 19: 56,308,630 (GRCm39) M1485I probably benign Het
Nudt18 T C 14: 70,816,830 (GRCm39) Y145H probably benign Het
Or51b6b T C 7: 103,309,620 (GRCm39) Y279C possibly damaging Het
Or51f1d T C 7: 102,700,538 (GRCm39) L11P probably benign Het
Or5k8 A T 16: 58,644,782 (GRCm39) C97S probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb12 A T 18: 37,569,838 (GRCm39) Q328L possibly damaging Het
Pde6c T C 19: 38,146,884 (GRCm39) W431R probably damaging Het
Pga5 T C 19: 10,652,225 (GRCm39) E139G probably benign Het
Pkdrej G T 15: 85,705,306 (GRCm39) S210* probably null Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Sema3d A T 5: 12,498,074 (GRCm39) M27L probably benign Het
Serinc5 T C 13: 92,825,170 (GRCm39) S200P probably damaging Het
Sf3b3 T C 8: 111,568,452 (GRCm39) D174G probably damaging Het
Sult1b1 A T 5: 87,665,413 (GRCm39) probably null Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf3 T C 6: 42,570,725 (GRCm39) I342M probably benign Het
Tenm3 G A 8: 48,820,429 (GRCm39) T136M probably damaging Het
Tet3 T C 6: 83,352,773 (GRCm39) T1008A possibly damaging Het
Tgif1 T C 17: 71,151,861 (GRCm39) probably null Het
Trav15-2-dv6-2 A G 14: 53,887,323 (GRCm39) D81G probably benign Het
Trpv5 T A 6: 41,651,293 (GRCm39) H251L possibly damaging Het
Ttc14 C A 3: 33,854,537 (GRCm39) T37K possibly damaging Het
Vmn2r80 A T 10: 79,030,159 (GRCm39) I662L probably benign Het
Vmn2r81 A G 10: 79,129,649 (GRCm39) I847V probably benign Het
Zfp474 A G 18: 52,771,436 (GRCm39) T30A probably benign Het
Zswim4 C T 8: 84,957,580 (GRCm39) V163M probably damaging Het
Other mutations in Dolpp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1321:Dolpp1 UTSW 2 30,285,748 (GRCm39) missense possibly damaging 0.83
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
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
Posted On 2018-03-15