Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Rpn2'

342375

Institutional Source

Beutler Lab

Gene Symbol

Rpn2

Ensembl Gene

ENSMUSG00000027642

Gene Name

ribophorin II

Synonyms

1300012C06Rik, Rpn-2

MMRRC Submission

041798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4575 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

157121018-157168238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 157137244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 209 (A209E)

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: A177E

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

SMART Domains

Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: A177E

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: A209E

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

SMART Domains

Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: A209E

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: ENSMUST00000150349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156007

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 130,964,325 (GRCm39)	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,837,527 (GRCm39)		noncoding transcript	Het
Adgrf3	T	A	5: 30,407,255 (GRCm39)	M224L	probably benign	Het
Ago3	T	C	4: 126,240,475 (GRCm39)	H129R	probably benign	Het
Aoc1l1	C	T	6: 48,954,502 (GRCm39)	Q547*	probably null	Het
Asb10	C	T	5: 24,745,052 (GRCm39)	R99H	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bltp3a	T	C	17: 28,106,477 (GRCm39)	V1001A	probably benign	Het
Ccdc96	T	C	5: 36,643,419 (GRCm39)	V475A	possibly damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clec4b2	T	A	6: 123,150,639 (GRCm39)	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,722,805 (GRCm39)	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,256,133 (GRCm39)	A167E	possibly damaging	Het
Dpysl3	T	C	18: 43,475,312 (GRCm39)	K382R	probably damaging	Het
Dscam	A	G	16: 96,626,823 (GRCm39)	I362T	possibly damaging	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,254,896 (GRCm39)	Q507R	probably damaging	Het
Frem3	A	G	8: 81,342,704 (GRCm39)	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Gabrr1	C	T	4: 33,158,175 (GRCm39)	T266I	possibly damaging	Het
Gm11563	G	A	11: 99,549,275 (GRCm39)	P160S	unknown	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Haus8	A	G	8: 71,715,736 (GRCm39)	V34A	probably damaging	Het
Hgf	T	C	5: 16,777,599 (GRCm39)	Y199H	probably benign	Het
Ide	G	A	19: 37,249,604 (GRCm39)	P916L	unknown	Het
Igsf10	G	T	3: 59,237,521 (GRCm39)	H887N	probably benign	Het
Iigp1	A	T	18: 60,523,218 (GRCm39)	H112L	probably benign	Het
Impg2	A	G	16: 56,082,095 (GRCm39)	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,420,653 (GRCm39)	D91A	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Krt1c	T	G	15: 101,722,921 (GRCm39)	D359A	probably damaging	Het
Krt35	A	T	11: 99,986,725 (GRCm39)	N96K	probably benign	Het
Lnx1	T	C	5: 74,846,204 (GRCm39)	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299 (GRCm39)	I473V	probably benign	Het
Obscn	T	C	11: 59,013,598 (GRCm39)	D1108G	probably damaging	Het
Or52m2	A	T	7: 102,263,976 (GRCm39)	C73*	probably null	Het
Or7g12	C	A	9: 18,900,001 (GRCm39)	S239*	probably null	Het
Otop1	T	C	5: 38,457,065 (GRCm39)	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Prr14l	T	C	5: 32,950,988 (GRCm39)	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rfc4	T	A	16: 22,933,179 (GRCm39)		probably benign	Het
Sf1	T	C	19: 6,425,943 (GRCm39)		probably benign	Het
Sft2d1rt	T	C	11: 45,942,679 (GRCm39)	D148G	probably damaging	Het
Skint5	T	A	4: 113,524,390 (GRCm39)	S864C	unknown	Het
Slc2a10	C	G	2: 165,358,241 (GRCm39)	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,076,986 (GRCm39)	I1673N	probably benign	Het
Sri	G	T	5: 8,113,693 (GRCm39)	G152W	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Vmn2r125	T	A	4: 156,702,272 (GRCm39)	D19E	probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly 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
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'- CCGTTAAGAAAGGCCAGCTG -3'
(R):5'- TAGGATAGGCATCAATCAATCCCC -3'

Sequencing Primer
(F):5'- AGCTGTCTGGGGTCACG -3'
(R):5'- AGTCTTTAAACCTAACTAAATCCTGC -3'

Posted On

2015-09-24