Incidental Mutation 'R4376:Mrps2'
| ID |
325089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps2
|
| Ensembl Gene |
ENSMUSG00000035772 |
| Gene Name |
mitochondrial ribosomal protein S2 |
| Synonyms |
1500019M10Rik |
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28358078-28361190 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28358871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 67
(S67P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038600]
[ENSMUST00000086370]
[ENSMUST00000127683]
|
| AlphaFold |
Q924T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038600
AA Change: S67P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772
AA Change: S67P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S2
|
81 |
182 |
4.6e-23 |
PFAM |
|
Pfam:Ribosomal_S2
|
180 |
257 |
7.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086370
|
| SMART Domains |
Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
35 |
137 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127683
|
| SMART Domains |
Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
33 |
122 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146332
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,373,317 (GRCm39) |
S228C |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Mrps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Mrps2
|
APN |
2 |
28,358,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02250:Mrps2
|
APN |
2 |
28,359,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03172:Mrps2
|
APN |
2 |
28,359,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0090:Mrps2
|
UTSW |
2 |
28,358,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0325:Mrps2
|
UTSW |
2 |
28,359,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Mrps2
|
UTSW |
2 |
28,358,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Mrps2
|
UTSW |
2 |
28,359,676 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1589:Mrps2
|
UTSW |
2 |
28,359,500 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1590:Mrps2
|
UTSW |
2 |
28,359,500 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1591:Mrps2
|
UTSW |
2 |
28,359,500 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2098:Mrps2
|
UTSW |
2 |
28,358,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4067:Mrps2
|
UTSW |
2 |
28,359,782 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4541:Mrps2
|
UTSW |
2 |
28,358,412 (GRCm39) |
unclassified |
probably benign |
|
|
R4761:Mrps2
|
UTSW |
2 |
28,359,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5207:Mrps2
|
UTSW |
2 |
28,359,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7109:Mrps2
|
UTSW |
2 |
28,358,258 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9649:Mrps2
|
UTSW |
2 |
28,359,764 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9748:Mrps2
|
UTSW |
2 |
28,359,594 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACACTAGTCCCTCGGTG -3'
(R):5'- CCTGTCTGTGAACCAGCATC -3'
Sequencing Primer
(F):5'- TCGGTGTTGCAAAAATGCCC -3'
(R):5'- CAATACTAGCACTGCACTTGGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation