Incidental Mutation 'IGL02819:Rpn2'
ID 360935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpn2
Ensembl Gene ENSMUSG00000027642
Gene Name ribophorin II
Synonyms 1300012C06Rik, Rpn-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02819
Quality Score
Chromosome 2
Chromosomal Location 157121018-157168238 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 157158130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029171] [ENSMUST00000116380]
AlphaFold Q9DBG6
Predicted Effect probably null
Transcript: ENSMUST00000029171
SMART Domains Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642

Pfam:Ribophorin_II 2 71 1.5e-15 PFAM
Pfam:Ribophorin_II 68 596 3.5e-247 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000116380
SMART Domains Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642

Pfam:Ribophorin_II 9 627 1.8e-223 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149924
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Rpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Rpn2 APN 2 157,156,833 (GRCm39) missense probably damaging 1.00
IGL01894:Rpn2 APN 2 157,136,093 (GRCm39) missense probably benign 0.45
IGL02104:Rpn2 APN 2 157,163,747 (GRCm39) missense probably damaging 1.00
IGL02368:Rpn2 APN 2 157,144,328 (GRCm39) missense probably benign
R0932:Rpn2 UTSW 2 157,125,691 (GRCm39) missense possibly damaging 0.66
R1666:Rpn2 UTSW 2 157,136,075 (GRCm39) missense possibly damaging 0.93
R1668:Rpn2 UTSW 2 157,136,075 (GRCm39) missense possibly damaging 0.93
R1713:Rpn2 UTSW 2 157,156,888 (GRCm39) missense probably damaging 0.99
R2276:Rpn2 UTSW 2 157,152,208 (GRCm39) missense possibly damaging 0.64
R2279:Rpn2 UTSW 2 157,152,208 (GRCm39) missense possibly damaging 0.64
R3409:Rpn2 UTSW 2 157,132,572 (GRCm39) missense possibly damaging 0.91
R3411:Rpn2 UTSW 2 157,132,572 (GRCm39) missense possibly damaging 0.91
R3777:Rpn2 UTSW 2 157,141,477 (GRCm39) missense probably damaging 0.99
R4004:Rpn2 UTSW 2 157,159,928 (GRCm39) missense probably damaging 1.00
R4575:Rpn2 UTSW 2 157,137,244 (GRCm39) missense probably damaging 1.00
R4613:Rpn2 UTSW 2 157,144,345 (GRCm39) missense possibly damaging 0.87
R4856:Rpn2 UTSW 2 157,159,964 (GRCm39) critical splice donor site probably null
R4886:Rpn2 UTSW 2 157,159,964 (GRCm39) critical splice donor site probably null
R5491:Rpn2 UTSW 2 157,139,303 (GRCm39) missense probably damaging 0.99
R5526:Rpn2 UTSW 2 157,165,187 (GRCm39) missense probably damaging 1.00
R5633:Rpn2 UTSW 2 157,125,516 (GRCm39) missense possibly damaging 0.81
R5718:Rpn2 UTSW 2 157,163,747 (GRCm39) missense probably damaging 1.00
R5772:Rpn2 UTSW 2 157,137,265 (GRCm39) missense probably damaging 1.00
R6101:Rpn2 UTSW 2 157,152,108 (GRCm39) splice site probably null
R6618:Rpn2 UTSW 2 157,163,781 (GRCm39) missense probably benign
R6698:Rpn2 UTSW 2 157,139,330 (GRCm39) missense possibly damaging 0.88
R8882:Rpn2 UTSW 2 157,136,102 (GRCm39) missense probably benign
R8953:Rpn2 UTSW 2 157,163,746 (GRCm39) missense probably damaging 1.00
R9085:Rpn2 UTSW 2 157,125,567 (GRCm39) missense possibly damaging 0.49
R9124:Rpn2 UTSW 2 157,139,458 (GRCm39) missense probably benign
R9368:Rpn2 UTSW 2 157,141,500 (GRCm39) missense possibly damaging 0.94
R9638:Rpn2 UTSW 2 157,125,566 (GRCm39) missense probably benign 0.03
Posted On 2015-12-18