Mutagenetix > Incidental Mutation

Incidental Mutation 'R3411:Rpn2'

267698

Institutional Source

Beutler Lab

Gene Symbol

Rpn2

Ensembl Gene

ENSMUSG00000027642

Gene Name

ribophorin II

Synonyms

1300012C06Rik, Rpn-2

MMRRC Submission

040629-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3411 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

157121018-157168238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 157132572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 108 (A108E)

Ref Sequence

ENSEMBL: ENSMUSP00000029171 (fasta)

Gene Model

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

AlphaFold

Q9DBG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029171
AA Change: A108E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: A108E

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

possibly damaging
Transcript: ENSMUST00000116380
AA Change: A140E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: A140E

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1706

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (62/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,596 (GRCm39)	V675D	possibly damaging	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Aff1	T	A	5: 103,902,572 (GRCm39)	M1K	probably null	Het
AI429214	C	T	8: 37,461,071 (GRCm39)	S73L	probably benign	Het
Apc	C	A	18: 34,402,312 (GRCm39)		probably benign	Het
Apcs	T	C	1: 172,722,130 (GRCm39)	Y72C	probably damaging	Het
Arid4a	T	C	12: 71,108,299 (GRCm39)		probably benign	Het
Armcx4	C	A	X: 133,591,774 (GRCm39)	Q561K	probably benign	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Bank1	G	A	3: 135,953,534 (GRCm39)		probably benign	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Egfem1	C	T	3: 29,637,170 (GRCm39)	T202I	probably damaging	Het
Fam120b	T	A	17: 15,651,897 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,881,416 (GRCm39)	T1263A	possibly damaging	Het
Gm6802	C	A	12: 19,540,621 (GRCm39)		noncoding transcript	Het
Golga2	C	A	2: 32,192,954 (GRCm39)	A424E	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Hcrtr2	A	G	9: 76,140,290 (GRCm39)	F333L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Htr1b	A	C	9: 81,514,094 (GRCm39)	V171G	probably benign	Het
Kalrn	G	T	16: 34,032,642 (GRCm39)	D1117E	probably benign	Het
Kcp	T	C	6: 29,482,845 (GRCm39)	N1408S	possibly damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
Lrrc8d	A	T	5: 105,974,572 (GRCm39)		noncoding transcript	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Mcm6	T	C	1: 128,279,322 (GRCm39)	T155A	probably benign	Het
Mslnl	T	C	17: 25,963,491 (GRCm39)	F326L	probably benign	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8k3	T	C	2: 86,058,986 (GRCm39)	S110G	probably benign	Het
Otoa	A	G	7: 120,721,266 (GRCm39)	Q427R	probably damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pdzd8	A	G	19: 59,333,845 (GRCm39)	Y59H	probably damaging	Het
Psmc3	A	C	2: 90,886,263 (GRCm39)	D159A	probably damaging	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc16a4	G	A	3: 107,208,188 (GRCm39)	E233K	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm39)	T183A	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Styxl1	T	C	5: 135,794,618 (GRCm39)	Y83C	probably damaging	Het
Sypl2	C	T	3: 108,124,045 (GRCm39)	V166I	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Usp53	T	C	3: 122,743,507 (GRCm39)		probably null	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCTTGGCAGCTGTGTTC -3'
(R):5'- TGTCTGCACATCTAGCAGAG -3'

Sequencing Primer
(F):5'- GGTCGGTATGCCTTTCACAAACTG -3'
(R):5'- ATCTAGCAGAGCACCTGGC -3'

Posted On

2015-02-18