Incidental Mutation 'IGL03177:Mrpl2'
| ID |
412057 |
| 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: 0.926)
|
| Stock # |
IGL03177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46957155-46961065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46959963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 213
(T213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002844
(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: T213S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: T213S
| 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
AA Change: D209V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767
AA Change: D209V
| 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: T211S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: T211S
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000151002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144966
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
| H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
| Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
| Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
| Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
| Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
| Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
| Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
| Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
| P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
| Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
| Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably damaging |
Het |
|
| Other mutations in Mrpl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Mrpl2
|
APN |
17 |
46,960,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01757:Mrpl2
|
APN |
17 |
46,959,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Mrpl2
|
APN |
17 |
46,959,157 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation