Incidental Mutation 'R4856:Rpn2'
ID 374549
Institutional Source Beutler Lab
Gene Symbol Rpn2
Ensembl Gene ENSMUSG00000027642
Gene Name ribophorin II
Synonyms 1300012C06Rik, Rpn-2
MMRRC Submission 042467-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4856 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 157121018-157168238 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 157159964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029171] [ENSMUST00000029171] [ENSMUST00000116380]
AlphaFold Q9DBG6
Predicted Effect probably null
Transcript: ENSMUST00000029171
SMART Domains Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642

DomainStartEndE-ValueType
Pfam:Ribophorin_II 2 71 1.5e-15 PFAM
Pfam:Ribophorin_II 68 596 3.5e-247 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000029171
SMART Domains Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 G A 6: 140,589,799 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp2b4 T A 1: 133,634,518 (GRCm39) I1177L probably benign Het
Bub3 A T 7: 131,163,297 (GRCm39) D76V probably damaging Het
Cacna2d4 G A 6: 119,255,217 (GRCm39) R578Q possibly damaging Het
Caprin2 A C 6: 148,774,509 (GRCm39) S268A probably benign Het
Card6 T C 15: 5,134,623 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,319 (GRCm39) S1103P probably benign Het
Cfap221 T C 1: 119,861,934 (GRCm39) T614A probably damaging Het
Cfap221 T A 1: 119,912,488 (GRCm39) Y133F probably damaging Het
Clcc1 A G 3: 108,584,154 (GRCm39) T513A probably benign Het
Clec4g T A 8: 3,766,419 (GRCm39) probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Cpne2 T A 8: 95,290,592 (GRCm39) D392E probably benign Het
Cry1 G T 10: 84,984,634 (GRCm39) P147T probably damaging Het
Cyp4a29 T C 4: 115,110,078 (GRCm39) V440A probably benign Het
Ddx46 A G 13: 55,786,012 (GRCm39) D64G unknown Het
Dhx34 A G 7: 15,949,367 (GRCm39) S354P possibly damaging Het
Ecm2 A T 13: 49,676,263 (GRCm39) I327F possibly damaging Het
Elavl3 T C 9: 21,937,614 (GRCm39) K189E possibly damaging Het
Enam A T 5: 88,636,593 (GRCm39) R82* probably null Het
Erf A G 7: 24,945,636 (GRCm39) V45A probably damaging Het
Fat3 T A 9: 15,932,626 (GRCm39) I1436F probably benign Het
Flnc T C 6: 29,447,889 (GRCm39) Y1231H probably damaging Het
Ggta1 T A 2: 35,292,803 (GRCm39) H180L possibly damaging Het
Grin2c T C 11: 115,151,616 (GRCm39) T115A probably damaging Het
H6pd C T 4: 150,067,235 (GRCm39) V384M possibly damaging Het
Hba-x A G 11: 32,227,008 (GRCm39) E39G probably benign Het
Hnrnpul2 C T 19: 8,807,191 (GRCm39) P618S probably benign Het
Hpse2 C T 19: 42,777,396 (GRCm39) R590H probably damaging Het
Ighv1-54 C A 12: 115,157,423 (GRCm39) G75C probably damaging Het
Ighv8-11 C A 12: 115,530,774 (GRCm39) R118L possibly damaging Het
Iqcm A T 8: 76,615,228 (GRCm39) R436S possibly damaging Het
Islr T C 9: 58,064,889 (GRCm39) D206G probably damaging Het
Itih1 A G 14: 30,658,658 (GRCm39) probably null Het
Jam2 G A 16: 84,598,490 (GRCm39) D34N probably benign Het
Klhl14 A T 18: 21,691,029 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lrrc66 A G 5: 73,765,910 (GRCm39) F378L probably benign Het
Map10 T A 8: 126,397,431 (GRCm39) Y275N probably damaging Het
Mpi T C 9: 57,452,590 (GRCm39) Y314C probably damaging Het
Mpp3 A G 11: 101,915,962 (GRCm39) Y55H probably benign Het
Nectin4 T C 1: 171,212,383 (GRCm39) V327A possibly damaging Het
Nlrp12 T A 7: 3,289,072 (GRCm39) D480V probably damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Notch2 A T 3: 98,009,735 (GRCm39) Y554F probably damaging Het
Nrsn2 T C 2: 152,211,531 (GRCm39) K167E probably benign Het
Olr1 T A 6: 129,470,559 (GRCm39) K203* probably null Het
Or14j8 A T 17: 38,262,962 (GRCm39) S318T probably benign Het
Or2ag13 T A 7: 106,473,177 (GRCm39) I92F probably damaging Het
Or5b117 T C 19: 13,431,885 (GRCm39) probably null Het
Or8b3 A T 9: 38,314,764 (GRCm39) N195I probably damaging Het
Or9i2 T A 19: 13,815,643 (GRCm39) E298V probably damaging Het
Osbpl9 T C 4: 108,925,564 (GRCm39) N485S probably benign Het
Pbk T A 14: 66,052,650 (GRCm39) H164Q probably damaging Het
Pfn2 G T 3: 57,754,874 (GRCm39) N10K probably damaging Het
Pik3ca A G 3: 32,491,312 (GRCm39) D133G probably damaging Het
Pramel27 G T 4: 143,579,873 (GRCm39) R486L probably benign Het
Prl6a1 A T 13: 27,502,983 (GRCm39) D193V probably damaging Het
Rad21 G T 15: 51,831,896 (GRCm39) P395Q probably damaging Het
Reps1 T A 10: 17,999,373 (GRCm39) I720N probably damaging Het
Rreb1 G A 13: 38,115,034 (GRCm39) V798M possibly damaging Het
Sardh C T 2: 27,134,489 (GRCm39) R9H probably benign Het
Scgb3a2 C T 18: 43,899,819 (GRCm39) P36S probably damaging Het
Scn10a C A 9: 119,523,375 (GRCm39) G6V possibly damaging Het
Scn10a C T 9: 119,523,376 (GRCm39) G6R possibly damaging Het
Scn3a T C 2: 65,291,376 (GRCm39) D1790G probably damaging Het
Sec24b A T 3: 129,777,619 (GRCm39) H1226Q probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc12a3 G A 8: 95,078,438 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tex52 A T 6: 128,361,951 (GRCm39) probably null Het
Tma16 A C 8: 66,934,129 (GRCm39) C75W probably damaging Het
Tmem67 G A 4: 12,089,416 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,236 (GRCm39) V29A probably benign Het
Trmt10a A T 3: 137,854,146 (GRCm39) K75* probably null Het
Ttc3 T C 16: 94,191,142 (GRCm39) V228A probably benign Het
Ttn T C 2: 76,561,644 (GRCm39) D28954G probably damaging Het
Uggt2 A G 14: 119,273,376 (GRCm39) probably null Het
Vars1 T A 17: 35,234,702 (GRCm39) V1177E probably benign Het
Vmn1r59 T C 7: 5,457,532 (GRCm39) D76G possibly damaging Het
Vmn2r114 G T 17: 23,527,008 (GRCm39) A508E probably benign Het
Vps41 G A 13: 19,013,425 (GRCm39) V348M probably damaging Het
Zbtb43 T C 2: 33,343,944 (GRCm39) H427R probably damaging 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
IGL02819:Rpn2 APN 2 157,158,130 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TCAAAGCCTTGGCCTCTAGG -3'
(R):5'- TGGCAGCAATTTTCTCATGTG -3'

Sequencing Primer
(F):5'- AGGTATTTCCTCTCCTCAGTTGTTGG -3'
(R):5'- AATGGATGCATTTATTTGGCTCTTCC -3'
Posted On 2016-03-16