Incidental Mutation 'R5405:Mrpl2'
| ID |
428694 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46957155-46961065 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 46960036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002844]
[ENSMUST00000002844]
[ENSMUST00000003642]
[ENSMUST00000043464]
[ENSMUST00000113429]
[ENSMUST00000113429]
[ENSMUST00000113430]
[ENSMUST00000113430]
[ENSMUST00000113430]
[ENSMUST00000113430]
[ENSMUST00000133393]
[ENSMUST00000145567]
|
| AlphaFold |
Q9D773 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002844
|
| SMART Domains |
Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
| 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 null
Transcript: ENSMUST00000002844
|
| SMART Domains |
Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
| 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 null
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 null
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 null
Transcript: ENSMUST00000113430
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
| 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 |
probably null
Transcript: ENSMUST00000113430
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
| 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 |
probably null
Transcript: ENSMUST00000113430
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
| 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 |
probably null
Transcript: ENSMUST00000113430
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
| 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: ENSMUST00000146183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151002
|
| 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 |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
| Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
| B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
| Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
| Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
| Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
| Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
| Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
| Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
| Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
| Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
| Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
| Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
| Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATCTGTTCCAGGACAGG -3'
(R):5'- ACACTTGGGAGACACTGAGG -3'
Sequencing Primer
(F):5'- CAATGAGAGGATCAATCTGTGCTTTG -3'
(R):5'- GACACTGAGGGACATTCTAAAACTTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation