Incidental Mutation 'IGL01517:Mrpl2'
ID |
90446 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrpl2
|
Ensembl Gene |
ENSMUSG00000002767 |
Gene Name |
mitochondrial ribosomal protein L2 |
Synonyms |
CGI-22, MRP-L14, Rpml14 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
IGL01517
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46957155-46961065 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46960909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 268
(R268G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002844]
[ENSMUST00000003642]
[ENSMUST00000043464]
[ENSMUST00000113429]
[ENSMUST00000113430]
[ENSMUST00000133393]
[ENSMUST00000145567]
|
AlphaFold |
Q9D773 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002844
AA Change: R270G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002844 Gene: ENSMUSG00000002767 AA Change: R270G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Ribosomal_L2
|
84 |
166 |
3.44e-29 |
SMART |
Ribosomal_L2_C
|
177 |
298 |
1.32e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000003642
|
SMART Domains |
Protein: ENSMUSP00000003642 Gene: ENSMUSG00000003546
Domain | Start | End | E-Value | Type |
coiled coil region
|
90 |
155 |
N/A |
INTRINSIC |
low complexity region
|
194 |
204 |
N/A |
INTRINSIC |
Pfam:TPR_10
|
210 |
251 |
9.4e-9 |
PFAM |
TPR
|
253 |
286 |
3.32e-1 |
SMART |
TPR
|
295 |
328 |
7.16e-6 |
SMART |
TPR
|
337 |
370 |
4.21e-3 |
SMART |
TPR
|
379 |
412 |
9.03e-3 |
SMART |
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
TPR
|
464 |
497 |
9.99e1 |
SMART |
low complexity region
|
609 |
619 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043464
|
SMART Domains |
Protein: ENSMUSP00000049128 Gene: ENSMUSG00000038545
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
Pfam:Cul7
|
349 |
423 |
5.7e-34 |
PFAM |
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
low complexity region
|
603 |
618 |
N/A |
INTRINSIC |
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
APC10
|
811 |
973 |
9.35e-49 |
SMART |
low complexity region
|
983 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1301 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1335 |
1370 |
N/A |
INTRINSIC |
Blast:Cullin_Nedd8
|
1550 |
1633 |
1e-41 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113429
|
SMART Domains |
Protein: ENSMUSP00000109056 Gene: ENSMUSG00000002767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L2
|
84 |
166 |
1.1e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113430
AA Change: R268G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109057 Gene: ENSMUSG00000002767 AA Change: R268G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L2
|
82 |
164 |
1.6e-31 |
PFAM |
Pfam:Ribosomal_L2_C
|
175 |
279 |
5.6e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144966
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146183
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133393
|
SMART Domains |
Protein: ENSMUSP00000119393 Gene: ENSMUSG00000038545
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
26 |
N/A |
INTRINSIC |
Pfam:Cul7
|
51 |
126 |
8e-34 |
PFAM |
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
low complexity region
|
305 |
320 |
N/A |
INTRINSIC |
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
SCOP:d1gqpa_
|
487 |
568 |
1e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145567
|
SMART Domains |
Protein: ENSMUSP00000116133 Gene: ENSMUSG00000038545
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
SCOP:d1jdha_
|
63 |
222 |
2e-4 |
SMART |
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
Pfam:Cul7
|
349 |
424 |
9.5e-34 |
PFAM |
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
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 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
Het |
|
Other mutations in Mrpl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01757:Mrpl2
|
APN |
17 |
46,959,183 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02292:Mrpl2
|
APN |
17 |
46,959,157 (GRCm39) |
unclassified |
probably benign |
|
IGL03177:Mrpl2
|
APN |
17 |
46,959,963 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03326:Mrpl2
|
APN |
17 |
46,960,853 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1620:Mrpl2
|
UTSW |
17 |
46,958,425 (GRCm39) |
missense |
probably benign |
0.28 |
R2567:Mrpl2
|
UTSW |
17 |
46,958,427 (GRCm39) |
missense |
probably benign |
0.17 |
R4573:Mrpl2
|
UTSW |
17 |
46,959,967 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5102:Mrpl2
|
UTSW |
17 |
46,960,964 (GRCm39) |
missense |
probably benign |
0.11 |
R5103:Mrpl2
|
UTSW |
17 |
46,960,964 (GRCm39) |
missense |
probably benign |
0.11 |
R5283:Mrpl2
|
UTSW |
17 |
46,959,992 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5405:Mrpl2
|
UTSW |
17 |
46,960,036 (GRCm39) |
critical splice donor site |
probably null |
|
R6199:Mrpl2
|
UTSW |
17 |
46,960,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Mrpl2
|
UTSW |
17 |
46,960,835 (GRCm39) |
missense |
probably damaging |
0.98 |
R6232:Mrpl2
|
UTSW |
17 |
46,958,356 (GRCm39) |
missense |
probably benign |
0.01 |
R6841:Mrpl2
|
UTSW |
17 |
46,958,382 (GRCm39) |
missense |
probably benign |
0.31 |
R7170:Mrpl2
|
UTSW |
17 |
46,959,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R7784:Mrpl2
|
UTSW |
17 |
46,959,517 (GRCm39) |
splice site |
probably null |
|
R7831:Mrpl2
|
UTSW |
17 |
46,959,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8284:Mrpl2
|
UTSW |
17 |
46,958,435 (GRCm39) |
nonsense |
probably null |
|
R8938:Mrpl2
|
UTSW |
17 |
46,957,238 (GRCm39) |
unclassified |
probably benign |
|
R9510:Mrpl2
|
UTSW |
17 |
46,958,440 (GRCm39) |
missense |
probably benign |
0.19 |
X0018:Mrpl2
|
UTSW |
17 |
46,959,277 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Mrpl2
|
UTSW |
17 |
46,958,404 (GRCm39) |
missense |
probably null |
0.14 |
|
Posted On |
2013-12-09 |