Incidental Mutation 'R5801:Psmd2'
| ID |
448377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd2
|
| Ensembl Gene |
ENSMUSG00000006998 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 |
| Synonyms |
TEG-190, Tex190, 9430095H01Rik |
| MMRRC Submission |
043390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5801 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20470402-20482164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20473672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 121
(N121S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007212]
[ENSMUST00000172207]
[ENSMUST00000232629]
|
| AlphaFold |
Q8VDM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007212
AA Change: N195S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: N195S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC_rep
|
443 |
479 |
3.7e-9 |
PFAM |
|
Pfam:PC_rep
|
480 |
514 |
1.3e-8 |
PFAM |
|
low complexity region
|
571 |
581 |
N/A |
INTRINSIC |
|
SCOP:d1gw5b_
|
617 |
773 |
1e-8 |
SMART |
|
PDB:4CR4|Z
|
653 |
906 |
3e-57 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231897
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232629
AA Change: N121S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232513
|
| Meta Mutation Damage Score |
0.1031 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
| Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
| Ago3 |
A |
T |
4: 126,265,561 (GRCm39) |
N284K |
possibly damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,778,523 (GRCm39) |
E674G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
| Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
| Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,761,913 (GRCm39) |
E1318G |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
| Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
| Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
| Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
| Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
| Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
| Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
| Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
| Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
| Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
| Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
| Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
| Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
| Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 44,006,240 (GRCm39) |
E1986K |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
| Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
| Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
| Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
| Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
| Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
| Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
| Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
| Tmem132d |
A |
G |
5: 127,861,964 (GRCm39) |
V719A |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
| Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
| Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
probably damaging |
Het |
|
| Other mutations in Psmd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Psmd2
|
APN |
16 |
20,478,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02348:Psmd2
|
APN |
16 |
20,473,397 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02352:Psmd2
|
APN |
16 |
20,475,691 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02359:Psmd2
|
APN |
16 |
20,475,691 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0012:Psmd2
|
UTSW |
16 |
20,480,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0144:Psmd2
|
UTSW |
16 |
20,480,975 (GRCm39) |
splice site |
probably null |
|
|
R0565:Psmd2
|
UTSW |
16 |
20,479,176 (GRCm39) |
missense |
probably null |
0.63 |
|
R0739:Psmd2
|
UTSW |
16 |
20,474,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1075:Psmd2
|
UTSW |
16 |
20,478,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1189:Psmd2
|
UTSW |
16 |
20,480,644 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1231:Psmd2
|
UTSW |
16 |
20,474,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1405:Psmd2
|
UTSW |
16 |
20,471,034 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1405:Psmd2
|
UTSW |
16 |
20,471,034 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1466:Psmd2
|
UTSW |
16 |
20,476,715 (GRCm39) |
unclassified |
probably benign |
|
|
R1556:Psmd2
|
UTSW |
16 |
20,474,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1843:Psmd2
|
UTSW |
16 |
20,475,332 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2398:Psmd2
|
UTSW |
16 |
20,478,222 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2421:Psmd2
|
UTSW |
16 |
20,478,856 (GRCm39) |
splice site |
probably null |
|
|
R2520:Psmd2
|
UTSW |
16 |
20,481,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3040:Psmd2
|
UTSW |
16 |
20,476,317 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3905:Psmd2
|
UTSW |
16 |
20,474,392 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3906:Psmd2
|
UTSW |
16 |
20,474,392 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3909:Psmd2
|
UTSW |
16 |
20,474,392 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4027:Psmd2
|
UTSW |
16 |
20,481,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4029:Psmd2
|
UTSW |
16 |
20,481,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4031:Psmd2
|
UTSW |
16 |
20,481,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Psmd2
|
UTSW |
16 |
20,475,402 (GRCm39) |
missense |
probably benign |
|
|
R4410:Psmd2
|
UTSW |
16 |
20,473,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4678:Psmd2
|
UTSW |
16 |
20,478,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Psmd2
|
UTSW |
16 |
20,478,565 (GRCm39) |
unclassified |
probably benign |
|
|
R4771:Psmd2
|
UTSW |
16 |
20,481,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5081:Psmd2
|
UTSW |
16 |
20,480,405 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5124:Psmd2
|
UTSW |
16 |
20,471,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6381:Psmd2
|
UTSW |
16 |
20,474,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6732:Psmd2
|
UTSW |
16 |
20,481,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6870:Psmd2
|
UTSW |
16 |
20,480,593 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7030:Psmd2
|
UTSW |
16 |
20,480,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Psmd2
|
UTSW |
16 |
20,471,377 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7432:Psmd2
|
UTSW |
16 |
20,473,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8673:Psmd2
|
UTSW |
16 |
20,475,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Psmd2
|
UTSW |
16 |
20,474,161 (GRCm39) |
missense |
probably benign |
|
|
R9110:Psmd2
|
UTSW |
16 |
20,470,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9192:Psmd2
|
UTSW |
16 |
20,473,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Psmd2
|
UTSW |
16 |
20,475,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Psmd2
|
UTSW |
16 |
20,475,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9504:Psmd2
|
UTSW |
16 |
20,478,160 (GRCm39) |
missense |
probably benign |
|
|
R9526:Psmd2
|
UTSW |
16 |
20,474,369 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9689:Psmd2
|
UTSW |
16 |
20,479,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Psmd2
|
UTSW |
16 |
20,481,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACTGAATTCCTTGACTCC -3'
(R):5'- AAGGCAATGTAGCATGTTCTAGG -3'
Sequencing Primer
(F):5'- GAATTCCTTGACTCCCAGCAACATG -3'
(R):5'- GGAGTCACAAAGTCTCTTCCTTCAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation