Incidental Mutation 'IGL02250:Mrps2'
ID |
286336 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrps2
|
Ensembl Gene |
ENSMUSG00000035772 |
Gene Name |
mitochondrial ribosomal protein S2 |
Synonyms |
1500019M10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
IGL02250
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28358078-28361190 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28359557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 138
(I138T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038600]
[ENSMUST00000086370]
[ENSMUST00000127683]
|
AlphaFold |
Q924T2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038600
AA Change: I138T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036725 Gene: ENSMUSG00000035772 AA Change: I138T
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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
Cep57 |
A |
T |
9: 13,721,939 (GRCm39) |
F221I |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
Emcn |
T |
A |
3: 137,124,747 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,229,052 (GRCm39) |
C49R |
probably damaging |
Het |
Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
Radil |
A |
G |
5: 142,529,529 (GRCm39) |
S56P |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
Tbc1d14 |
A |
G |
5: 36,728,863 (GRCm39) |
S168P |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
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 |
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 |
R4376:Mrps2
|
UTSW |
2 |
28,358,871 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2015-04-16 |