Incidental Mutation 'R5012:Psmc2'
| ID |
390568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmc2
|
| Ensembl Gene |
ENSMUSG00000028932 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, ATPase 2 |
| Synonyms |
|
| MMRRC Submission |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21990281-22008785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22007563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 308
(T308A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030769]
|
| AlphaFold |
P46471 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030769
AA Change: T308A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030769
Gene: ENSMUSG00000028932
AA Change: T308A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
AAA
|
250 |
389 |
2.74e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132720
|
| Meta Mutation Damage Score |
0.0789 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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 ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
probably benign |
Het |
|
| Other mutations in Psmc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Psmc2
|
APN |
5 |
22,006,196 (GRCm39) |
splice site |
probably benign |
|
|
IGL01324:Psmc2
|
APN |
5 |
22,005,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01354:Psmc2
|
APN |
5 |
22,000,834 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02604:Psmc2
|
APN |
5 |
22,000,098 (GRCm39) |
splice site |
probably null |
|
|
R1656:Psmc2
|
UTSW |
5 |
22,004,549 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2154:Psmc2
|
UTSW |
5 |
22,008,127 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4684:Psmc2
|
UTSW |
5 |
22,008,263 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6736:Psmc2
|
UTSW |
5 |
22,005,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6989:Psmc2
|
UTSW |
5 |
22,006,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7681:Psmc2
|
UTSW |
5 |
22,008,272 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8120:Psmc2
|
UTSW |
5 |
22,005,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Psmc2
|
UTSW |
5 |
22,001,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8823:Psmc2
|
UTSW |
5 |
22,005,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9798:Psmc2
|
UTSW |
5 |
22,000,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Psmc2
|
UTSW |
5 |
22,006,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATACTGTGTTGAAGCTAGCAG -3'
(R):5'- AGCTAAGTGCACAACCTACTTTG -3'
Sequencing Primer
(F):5'- GCCTCTTGAGTGCTGGAATTAAAGAC -3'
(R):5'- ACTGCAAACTGCTTCATGGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation