Incidental Mutation 'R6270:Dolpp1'
Institutional Source Beutler Lab
Gene Symbol Dolpp1
Ensembl Gene ENSMUSG00000026856
Gene Namedolichyl pyrophosphate phosphatase 1
Synonyms0610011H20Rik, LSFR2
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #R6270 (G1)
Quality Score136.01
Status Not validated
Chromosomal Location30392254-30400529 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 30392269 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028209] [ENSMUST00000113612] [ENSMUST00000123202]
Predicted Effect probably benign
Transcript: ENSMUST00000028209
SMART Domains Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856

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

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

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

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

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: ENSMUST00000156704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156984
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
8030462N17Rik T C 18: 77,674,421 D65G probably damaging Het
Acsl6 A G 11: 54,352,107 E648G probably benign Het
Ak7 A G 12: 105,768,701 H642R probably benign Het
Akap11 T C 14: 78,518,799 E53G probably damaging Het
Ddr2 T G 1: 169,988,540 T533P probably benign Het
Dhx40 A G 11: 86,799,605 S197P possibly damaging Het
Eng A G 2: 32,673,643 D347G probably benign Het
Esrra C T 19: 6,914,120 probably null Het
Fam208b C T 13: 3,581,891 R870H possibly damaging Het
Fap T C 2: 62,547,788 I159V probably damaging Het
Fn1 C T 1: 71,637,275 C599Y probably damaging Het
Fnbp4 T C 2: 90,757,463 V395A probably damaging Het
Foxn3 T C 12: 99,388,417 R163G probably damaging Het
Gphn T G 12: 78,522,950 L306R probably benign Het
Gse1 T C 8: 120,569,163 probably benign Het
Habp2 A G 19: 56,306,863 D62G possibly damaging Het
Hdac7 AGGG AGGGG 15: 97,808,495 probably null Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Kit A G 5: 75,609,509 T194A probably benign Het
Krt16 C A 11: 100,247,203 A316S possibly damaging Het
Krt7 A G 15: 101,419,558 D244G probably damaging Het
Lhfpl3 T A 5: 23,273,351 Y77* probably null Het
Lrrc18 A T 14: 33,009,121 M206L probably benign Het
Magel2 C A 7: 62,380,658 C1103* probably null Het
Mcf2l T C 8: 13,018,701 V1058A probably damaging Het
Nbas G A 12: 13,324,293 A541T probably damaging Het
Nrap C T 19: 56,320,198 M1485I probably benign Het
Nudt18 T C 14: 70,579,390 Y145H probably benign Het
Olfr175-ps1 A T 16: 58,824,419 C97S probably damaging Het
Olfr583 T C 7: 103,051,331 L11P probably benign Het
Olfr623 T C 7: 103,660,413 Y279C possibly damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pcdhb12 A T 18: 37,436,785 Q328L possibly damaging Het
Pde6c T C 19: 38,158,436 W431R probably damaging Het
Pga5 T C 19: 10,674,861 E139G probably benign Het
Pkdrej G T 15: 85,821,105 S210* probably null Het
Pnpla1 G A 17: 28,881,368 G403E probably benign Het
Sema3d A T 5: 12,448,107 M27L probably benign Het
Serinc5 T C 13: 92,688,662 S200P probably damaging Het
Sf3b3 T C 8: 110,841,820 D174G probably damaging Het
Sult1b1 A T 5: 87,517,554 probably null Het
Tcaf3 T C 6: 42,593,791 I342M probably benign Het
Tenm3 G A 8: 48,367,394 T136M probably damaging Het
Tet3 T C 6: 83,375,791 T1008A possibly damaging Het
Tgif1 T C 17: 70,844,866 probably null Het
Trav15-2-dv6-2 A G 14: 53,649,866 D81G probably benign Het
Trpv5 T A 6: 41,674,359 H251L possibly damaging Het
Ttc14 C A 3: 33,800,388 T37K possibly damaging Het
Vmn2r80 A T 10: 79,194,325 I662L probably benign Het
Vmn2r81 A G 10: 79,293,815 I847V probably benign Het
Zfp474 A G 18: 52,638,364 T30A probably benign Het
Zswim4 C T 8: 84,230,951 V163M probably damaging Het
Other mutations in Dolpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Dolpp1 APN 2 30397095 missense probably damaging 1.00
IGL02896:Dolpp1 APN 2 30396230 missense probably damaging 0.99
R1321:Dolpp1 UTSW 2 30395736 missense possibly damaging 0.83
R2032:Dolpp1 UTSW 2 30392441 missense probably damaging 1.00
R3722:Dolpp1 UTSW 2 30397488 missense probably damaging 0.98
R4407:Dolpp1 UTSW 2 30396452 missense possibly damaging 0.91
R5417:Dolpp1 UTSW 2 30396237 missense probably damaging 1.00
R5895:Dolpp1 UTSW 2 30395646 splice site probably benign
R7818:Dolpp1 UTSW 2 30396491 missense probably benign 0.24
R8108:Dolpp1 UTSW 2 30396246 missense probably benign 0.13
Predicted Primers
Posted On2018-03-15