Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Rpn2'

279889

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 #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

157121018-157168238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 157163747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 613 (T613M)

Ref Sequence

ENSEMBL: ENSMUSP00000112081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029171] [ENSMUST00000116380]

AlphaFold

Q9DBG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029171
AA Change: T581M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: T581M

Domain	Start	End	E-Value	Type
Pfam:Ribophorin_II	2	71	1.5e-15	PFAM
Pfam:Ribophorin_II	68	596	3.5e-247	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116380
AA Change: T613M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: T613M

Domain	Start	End	E-Value	Type
Pfam:Ribophorin_II	9	627	1.8e-223	PFAM

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
B3gnt6	G	T	7: 97,843,308 (GRCm39)	D217E	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fam117b	C	T	1: 59,988,278 (GRCm39)	T219I	probably benign	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,513,482 (GRCm39)	Y497*	probably null	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or5m8	G	T	2: 85,822,730 (GRCm39)	D190Y	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,907,936 (GRCm39)	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	probably benign	Het

Other mutations in Rpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-04-16