Incidental Mutation 'R5633:Rpn2'
| ID |
439963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpn2
|
| Ensembl Gene |
ENSMUSG00000027642 |
| Gene Name |
ribophorin II |
| Synonyms |
1300012C06Rik, Rpn-2 |
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157121018-157168238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 157125516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 9
(V9D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029171]
[ENSMUST00000116380]
[ENSMUST00000143663]
|
| AlphaFold |
Q9DBG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029171
AA Change: V9D
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029171
Gene: ENSMUSG00000027642
AA Change: V9D
| 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: V9D
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112081
Gene: ENSMUSG00000027642
AA Change: V9D
| 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: ENSMUST00000142463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143663
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
724 |
1024 |
8e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150035
|
| Meta Mutation Damage Score |
0.6210 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
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 |
|
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'- AAGACTGTCCTGGTGGTTGAAG -3'
(R):5'- TCTCCTGAAACACTGAACAGGG -3'
Sequencing Primer
(F):5'- AAGGTGGGGGTTATCTCTCCC -3'
(R):5'- GGAAAGGCGCTTTACTCTCAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation