Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Rpn2'

350933

Institutional Source

Beutler Lab

Gene Symbol

Rpn2

Ensembl Gene

ENSMUSG00000027642

Gene Name

ribophorin II

Synonyms

Rpn-2, 1300012C06Rik

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

157279017-157326319 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157302425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 336 (F336L)

Ref Sequence

ENSEMBL: ENSMUSP00000112081 (fasta)

Gene Model

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

AlphaFold

Q9DBG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029171
AA Change: F304L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: F304L

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: F336L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: F336L

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Rpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Rpn2	APN	2	157314913	missense	probably damaging	1.00
IGL01894:Rpn2	APN	2	157294173	missense	probably benign	0.45
IGL02104:Rpn2	APN	2	157321827	missense	probably damaging	1.00
IGL02368:Rpn2	APN	2	157302408	missense	probably benign
IGL02819:Rpn2	APN	2	157316210	critical splice donor site	probably null
R0932:Rpn2	UTSW	2	157283771	missense	possibly damaging	0.66
R1666:Rpn2	UTSW	2	157294155	missense	possibly damaging	0.93
R1668:Rpn2	UTSW	2	157294155	missense	possibly damaging	0.93
R1713:Rpn2	UTSW	2	157314968	missense	probably damaging	0.99
R2276:Rpn2	UTSW	2	157310288	missense	possibly damaging	0.64
R2279:Rpn2	UTSW	2	157310288	missense	possibly damaging	0.64
R3409:Rpn2	UTSW	2	157290652	missense	possibly damaging	0.91
R3411:Rpn2	UTSW	2	157290652	missense	possibly damaging	0.91
R3777:Rpn2	UTSW	2	157299557	missense	probably damaging	0.99
R4004:Rpn2	UTSW	2	157318008	missense	probably damaging	1.00
R4575:Rpn2	UTSW	2	157295324	missense	probably damaging	1.00
R4856:Rpn2	UTSW	2	157318044	critical splice donor site	probably null
R4886:Rpn2	UTSW	2	157318044	critical splice donor site	probably null
R5491:Rpn2	UTSW	2	157297383	missense	probably damaging	0.99
R5526:Rpn2	UTSW	2	157323267	missense	probably damaging	1.00
R5633:Rpn2	UTSW	2	157283596	missense	possibly damaging	0.81
R5718:Rpn2	UTSW	2	157321827	missense	probably damaging	1.00
R5772:Rpn2	UTSW	2	157295345	missense	probably damaging	1.00
R6101:Rpn2	UTSW	2	157310188	splice site	probably null
R6618:Rpn2	UTSW	2	157321861	missense	probably benign
R6698:Rpn2	UTSW	2	157297410	missense	possibly damaging	0.88
R8882:Rpn2	UTSW	2	157294182	missense	probably benign
R8953:Rpn2	UTSW	2	157321826	missense	probably damaging	1.00
R9085:Rpn2	UTSW	2	157283647	missense	possibly damaging	0.49
R9124:Rpn2	UTSW	2	157297538	missense	probably benign
R9368:Rpn2	UTSW	2	157299580	missense	possibly damaging	0.94
R9638:Rpn2	UTSW	2	157283646	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTTGAGGACCTGAGAGGAAGC -3'
(R):5'- AATATACCACATGACGGAGGC -3'

Sequencing Primer
(F):5'- GCAAAGAACACTGTATGTCCTG -3'
(R):5'- TATACCACATGACGGAGGCTTTGTG -3'

Posted On

2015-10-08