Incidental Mutation 'IGL01757:Mrpl2'
| ID |
153214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl2
|
| Ensembl Gene |
ENSMUSG00000002767 |
| Gene Name |
mitochondrial ribosomal protein L2 |
| Synonyms |
CGI-22, Rpml14, MRP-L14 |
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46646229-46650139 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46648257 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 96
(I96V)
|
| 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: I96V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: I96V
| 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 |
possibly damaging
Transcript: ENSMUST00000113429
AA Change: I96V
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767
AA Change: I96V
| 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: I94V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: I94V
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,990,281 |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,796,159 |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,180,001 |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,006,767 |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,927 |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,129,346 |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,768,927 |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,465,619 |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,573,140 |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,636,980 |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,558,085 |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,199,844 |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,541,867 |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 9,971,185 |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 97,035,875 |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,255,525 |
R117H |
possibly damaging |
Het |
| Mtif2 |
G |
A |
11: 29,541,337 |
|
probably benign |
Het |
| Olfr134 |
G |
T |
17: 38,175,686 |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,391,636 |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 22,009,664 |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,084,440 |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,202,608 |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,665,154 |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,104,580 |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,211,304 |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,576,228 |
V152A |
possibly damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,087,923 |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,204,925 |
S277P |
probably damaging |
Het |
|
| Other mutations in Mrpl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Mrpl2
|
APN |
17 |
46649983 |
missense |
probably damaging |
1.00 |
|
IGL02292:Mrpl2
|
APN |
17 |
46648231 |
unclassified |
probably benign |
|
|
IGL03177:Mrpl2
|
APN |
17 |
46649037 |
missense |
probably damaging |
0.99 |
|
IGL03326:Mrpl2
|
APN |
17 |
46649927 |
missense |
possibly damaging |
0.78 |
|
R1620:Mrpl2
|
UTSW |
17 |
46647499 |
missense |
probably benign |
0.28 |
|
R2567:Mrpl2
|
UTSW |
17 |
46647501 |
missense |
probably benign |
0.17 |
|
R4573:Mrpl2
|
UTSW |
17 |
46649041 |
missense |
possibly damaging |
0.89 |
|
R5102:Mrpl2
|
UTSW |
17 |
46650038 |
missense |
probably benign |
0.11 |
|
R5103:Mrpl2
|
UTSW |
17 |
46650038 |
missense |
probably benign |
0.11 |
|
R5283:Mrpl2
|
UTSW |
17 |
46649066 |
missense |
possibly damaging |
0.83 |
|
R5405:Mrpl2
|
UTSW |
17 |
46649110 |
critical splice donor site |
probably null |
|
|
R6199:Mrpl2
|
UTSW |
17 |
46649086 |
missense |
probably damaging |
1.00 |
|
R6225:Mrpl2
|
UTSW |
17 |
46649909 |
missense |
probably damaging |
0.98 |
|
R6232:Mrpl2
|
UTSW |
17 |
46647430 |
missense |
probably benign |
0.01 |
|
R6841:Mrpl2
|
UTSW |
17 |
46647456 |
missense |
probably benign |
0.31 |
|
R7170:Mrpl2
|
UTSW |
17 |
46648255 |
missense |
probably damaging |
1.00 |
|
R7784:Mrpl2
|
UTSW |
17 |
46648591 |
splice site |
probably null |
|
|
R7831:Mrpl2
|
UTSW |
17 |
46648672 |
missense |
possibly damaging |
0.93 |
|
R8284:Mrpl2
|
UTSW |
17 |
46647509 |
nonsense |
probably null |
|
|
R8938:Mrpl2
|
UTSW |
17 |
46646312 |
unclassified |
probably benign |
|
|
R9510:Mrpl2
|
UTSW |
17 |
46647514 |
missense |
probably benign |
0.19 |
|
X0018:Mrpl2
|
UTSW |
17 |
46648351 |
missense |
probably damaging |
1.00 |
|
Z1088:Mrpl2
|
UTSW |
17 |
46647478 |
missense |
probably null |
0.14 |
|
| Posted On |
2014-02-04 |
Incidental Mutation