Mutagenetix > Incidental Mutation

Incidental Mutation 'R8953:Rpn2'

681739

Institutional Source

Beutler Lab

Gene Symbol

Rpn2

Ensembl Gene

ENSMUSG00000027642

Gene Name

ribophorin II

Synonyms

1300012C06Rik, Rpn-2

MMRRC Submission

068789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157121018-157168238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157163746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 613 (T613A)

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: T581A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: T581A

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: T613A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: T613A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
Abca17	C	A	17: 24,518,015 (GRCm39)	V765L	probably benign	Het
Atp2b2	T	A	6: 113,737,630 (GRCm39)	T915S	possibly damaging	Het
Cacna1s	C	T	1: 136,025,170 (GRCm39)	H992Y	possibly damaging	Het
Castor1	A	T	11: 4,171,249 (GRCm39)	I244F	probably benign	Het
Clpp	T	A	17: 57,298,373 (GRCm39)	M113K	probably damaging	Het
Cmklr2	A	G	1: 63,222,272 (GRCm39)	L321P	probably damaging	Het
Csn3	A	G	5: 88,077,809 (GRCm39)	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,735,542 (GRCm39)	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,016,238 (GRCm39)		probably benign	Het
Etv4	A	G	11: 101,662,513 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,826 (GRCm39)	D246G	probably benign	Het
Foxo1	T	C	3: 52,253,675 (GRCm39)	S613P	probably damaging	Het
Gabra2	A	T	5: 71,163,525 (GRCm39)	C261S	probably damaging	Het
Garem1	A	T	18: 21,264,388 (GRCm39)		probably null	Het
Gmip	T	G	8: 70,269,427 (GRCm39)	L533R	probably damaging	Het
Havcr1	A	G	11: 46,647,006 (GRCm39)	T147A	possibly damaging	Het
Helz2	C	T	2: 180,874,884 (GRCm39)	R1870Q	probably damaging	Het
Itprid2	T	C	2: 79,490,839 (GRCm39)	Y986H	probably damaging	Het
Kcnk3	A	C	5: 30,779,382 (GRCm39)	K144T	probably damaging	Het
Lama5	A	G	2: 179,835,313 (GRCm39)	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,818,539 (GRCm39)	I498V	probably benign	Het
Map6	T	C	7: 98,965,078 (GRCm39)	L289P	probably damaging	Het
Mapk7	G	T	11: 61,383,792 (GRCm39)	D43E	possibly damaging	Het
Medag	A	G	5: 149,350,765 (GRCm39)	Y194C	probably damaging	Het
Mertk	A	G	2: 128,620,716 (GRCm39)		probably benign	Het
Mier3	C	A	13: 111,842,587 (GRCm39)	T136K	probably benign	Het
Ndc1	T	A	4: 107,238,890 (GRCm39)	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,052,632 (GRCm39)	V932A	probably damaging	Het
Or2m12	T	A	16: 19,105,269 (GRCm39)	M75L	probably benign	Het
Or5p55	G	A	7: 107,567,251 (GRCm39)	V216I	probably benign	Het
Or5w15	A	T	2: 87,568,371 (GRCm39)	M99K	probably benign	Het
Or9a4	G	T	6: 40,548,676 (GRCm39)	A119S	possibly damaging	Het
Otub2	A	T	12: 103,370,585 (GRCm39)	D289V	probably damaging	Het
P2rx3	A	G	2: 84,853,842 (GRCm39)	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,122,030 (GRCm39)	T585K	probably damaging	Het
Pik3c2a	A	T	7: 115,987,320 (GRCm39)	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,469,991 (GRCm39)	D232G	possibly damaging	Het
Pklr	C	T	3: 89,049,612 (GRCm39)	S234L	probably damaging	Het
Pkn1	T	C	8: 84,410,815 (GRCm39)	K271E	probably damaging	Het
Plch1	T	G	3: 63,639,126 (GRCm39)	H449P	possibly damaging	Het
Pparg	T	C	6: 115,418,507 (GRCm39)	L92P	possibly damaging	Het
Pramel51	A	G	12: 88,144,070 (GRCm39)	C248R	probably benign	Het
Ptgdr2	C	T	19: 10,917,786 (GRCm39)	T101I	probably benign	Het
Rad54l2	A	T	9: 106,570,461 (GRCm39)	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,867,546 (GRCm39)	S3P	probably damaging	Het
Rictor	G	A	15: 6,823,928 (GRCm39)	V1598I	probably benign	Het
Rph3al	G	T	11: 75,797,401 (GRCm39)	C98*	probably null	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rusf1	T	G	7: 127,872,678 (GRCm39)	Q423H	probably benign	Het
Sh3bp4	A	G	1: 89,072,159 (GRCm39)	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,438,254 (GRCm39)	N174S	probably damaging	Het
Spta1	A	G	1: 174,058,241 (GRCm39)	N1903S	probably benign	Het
Tacc2	T	C	7: 130,227,487 (GRCm39)	S1391P	probably benign	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Trhde	T	A	10: 114,338,966 (GRCm39)	I615F	probably damaging	Het
Ttc13	T	C	8: 125,402,088 (GRCm39)	N556S	probably damaging	Het
Ttn	T	A	2: 76,568,228 (GRCm39)	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,840,044 (GRCm39)	Y269F	probably benign	Het
Usp33	T	A	3: 152,080,420 (GRCm39)	V517E	possibly damaging	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Zfp318	T	A	17: 46,731,356 (GRCm39)	S1120T	probably benign	Het
Zfr2	C	A	10: 81,084,271 (GRCm39)	N650K	probably damaging	Het
Znfx1	G	A	2: 166,897,421 (GRCm39)	T501I	probably damaging	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
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
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'- GGAAGTGCTGACCCTTACAGTG -3'
(R):5'- ACATCTACCACTGTTCACACTTATG -3'

Sequencing Primer
(F):5'- TGCTGACCCTTACAGTGCAGAG -3'
(R):5'- GCTTCCTTAACAGGCTGGAG -3'

Posted On

2021-08-31