Incidental Mutation 'IGL01894:Rpn2'
ID179338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpn2
Ensembl Gene ENSMUSG00000027642
Gene Nameribophorin II
SynonymsRpn-2, 1300012C06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01894
Quality Score
Status
Chromosome2
Chromosomal Location157279017-157326319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 157294173 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 167 (T167I)
Ref Sequence ENSEMBL: ENSMUSP00000112081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029171] [ENSMUST00000116380]
Predicted Effect probably benign
Transcript: ENSMUST00000029171
AA Change: T135I

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: T135I

DomainStartEndE-ValueType
Pfam:Ribophorin_II 2 71 1.5e-15 PFAM
Pfam:Ribophorin_II 68 596 3.5e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116380
AA Change: T167I

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: T167I

DomainStartEndE-ValueType
Pfam:Ribophorin_II 9 627 1.8e-223 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156007
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 55,871,830 I530L probably benign Het
Adam3 T C 8: 24,687,938 D653G probably benign Het
Car13 T C 3: 14,661,465 F227S probably damaging Het
Cdc27 T C 11: 104,526,921 N300S probably benign Het
Fat3 C T 9: 16,375,849 V793I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpa33 T A 1: 166,165,216 D299E probably benign Het
Kif5a C T 10: 127,262,779 V40I probably benign Het
Lama3 A G 18: 12,572,064 H1455R probably benign Het
Lamc1 T C 1: 153,247,082 K751E possibly damaging Het
Nek5 T A 8: 22,113,819 H114L probably damaging Het
Nipal1 G A 5: 72,663,539 A37T probably benign Het
Olfr1446 T C 19: 12,889,643 probably benign Het
Olfr1453 G T 19: 13,028,285 L15I probably damaging Het
Olfr538 T C 7: 140,574,770 Y206H possibly damaging Het
Pik3ca T C 3: 32,450,026 Y622H possibly damaging Het
Pknox2 G T 9: 36,923,742 H144N probably damaging Het
Ppp4r4 A G 12: 103,593,138 Y526C probably damaging Het
Prdm10 A G 9: 31,316,261 D54G probably damaging Het
Slc22a30 G T 19: 8,386,657 H218Q probably benign Het
Supt6 A G 11: 78,222,838 S878P probably benign Het
Tmem184c A T 8: 77,597,146 C362* probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wscd2 C T 5: 113,572,296 R294W probably damaging Het
Other mutations in Rpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Rpn2 APN 2 157314913 missense probably damaging 1.00
IGL02104:Rpn2 APN 2 157321827 missense probably damaging 1.00
IGL02368:Rpn2 APN 2 157302408 missense probably benign
IGL02819:Rpn2 APN 2 157316210 critical splice donor site probably null
R0932:Rpn2 UTSW 2 157283771 missense possibly damaging 0.66
R1666:Rpn2 UTSW 2 157294155 missense possibly damaging 0.93
R1668:Rpn2 UTSW 2 157294155 missense possibly damaging 0.93
R1713:Rpn2 UTSW 2 157314968 missense probably damaging 0.99
R2276:Rpn2 UTSW 2 157310288 missense possibly damaging 0.64
R2279:Rpn2 UTSW 2 157310288 missense possibly damaging 0.64
R3409:Rpn2 UTSW 2 157290652 missense possibly damaging 0.91
R3411:Rpn2 UTSW 2 157290652 missense possibly damaging 0.91
R3777:Rpn2 UTSW 2 157299557 missense probably damaging 0.99
R4004:Rpn2 UTSW 2 157318008 missense probably damaging 1.00
R4575:Rpn2 UTSW 2 157295324 missense probably damaging 1.00
R4613:Rpn2 UTSW 2 157302425 missense possibly damaging 0.87
R4856:Rpn2 UTSW 2 157318044 critical splice donor site probably null
R4886:Rpn2 UTSW 2 157318044 critical splice donor site probably null
R5491:Rpn2 UTSW 2 157297383 missense probably damaging 0.99
R5526:Rpn2 UTSW 2 157323267 missense probably damaging 1.00
R5633:Rpn2 UTSW 2 157283596 missense possibly damaging 0.81
R5718:Rpn2 UTSW 2 157321827 missense probably damaging 1.00
R5772:Rpn2 UTSW 2 157295345 missense probably damaging 1.00
R6101:Rpn2 UTSW 2 157310188 splice site probably null
R6618:Rpn2 UTSW 2 157321861 missense probably benign
R6698:Rpn2 UTSW 2 157297410 missense possibly damaging 0.88
Posted On2014-05-07