Incidental Mutation 'R6199:Mrpl2'
ID |
503126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl2
|
Ensembl Gene |
ENSMUSG00000002767 |
Gene Name |
mitochondrial ribosomal protein L2 |
Synonyms |
CGI-22, MRP-L14, Rpml14 |
MMRRC Submission |
044339-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R6199 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46957155-46961065 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46960012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 227
(L227P)
|
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: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002844 Gene: ENSMUSG00000002767 AA Change: L229P
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 |
silent
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: L227P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109057 Gene: ENSMUSG00000002767 AA Change: L227P
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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144966
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
Ces1e |
A |
C |
8: 93,944,163 (GRCm39) |
F218L |
probably damaging |
Het |
Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
Insc |
A |
T |
7: 114,390,401 (GRCm39) |
|
probably null |
Het |
Izumo4 |
G |
A |
10: 80,538,707 (GRCm39) |
G53D |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
Man1a |
C |
T |
10: 53,890,552 (GRCm39) |
V288I |
possibly damaging |
Het |
Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
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 |
R5405:Mrpl2
|
UTSW |
17 |
46,960,036 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2018-02-27 |