Incidental Mutation 'R5102:Mrpl2'
| ID |
392446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl2
|
| Ensembl Gene |
ENSMUSG00000002767 |
| Gene Name |
mitochondrial ribosomal protein L2 |
| Synonyms |
CGI-22, MRP-L14, Rpml14 |
| MMRRC Submission |
042690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46957155-46961065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46960964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 286
(R286Q)
|
| 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 benign
Transcript: ENSMUST00000002844
AA Change: R288Q
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: R288Q
| 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 benign
Transcript: ENSMUST00000113430
AA Change: R286Q
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: R286Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000151002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146183
|
| 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 |
|
| Meta Mutation Damage Score |
0.0963 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
T |
1: 58,279,937 (GRCm39) |
R518C |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,469,592 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
C |
T |
10: 79,857,262 (GRCm39) |
P254S |
probably benign |
Het |
| Arl4c |
T |
C |
1: 88,629,322 (GRCm39) |
D22G |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,875 (GRCm39) |
T1142A |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,861,949 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,458 (GRCm39) |
N362S |
probably damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,912 (GRCm39) |
T280N |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,986,971 (GRCm39) |
T401S |
probably benign |
Het |
| Cmklr2 |
A |
G |
1: 63,222,326 (GRCm39) |
V303A |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,245,952 (GRCm39) |
M1148L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,832 (GRCm39) |
D1092G |
probably damaging |
Het |
| Cyth2 |
A |
G |
7: 45,460,126 (GRCm39) |
S173P |
probably damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,793 (GRCm39) |
I319F |
unknown |
Het |
| Dchs1 |
A |
T |
7: 105,421,384 (GRCm39) |
H345Q |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,640 (GRCm39) |
V211E |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnajb5 |
G |
A |
4: 42,956,639 (GRCm39) |
D109N |
possibly damaging |
Het |
| Dner |
A |
T |
1: 84,383,691 (GRCm39) |
N564K |
probably damaging |
Het |
| Fam234b |
T |
C |
6: 135,186,282 (GRCm39) |
S97P |
probably benign |
Het |
| Fam53b |
G |
A |
7: 132,317,684 (GRCm39) |
R60* |
probably null |
Het |
| Fmo3 |
T |
G |
1: 162,791,546 (GRCm39) |
K244Q |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,810,579 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gprin1 |
T |
C |
13: 54,887,576 (GRCm39) |
M233V |
probably benign |
Het |
| Gtf2f1 |
A |
T |
17: 57,310,626 (GRCm39) |
V443D |
probably damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,187,786 (GRCm39) |
|
probably benign |
Het |
| Ide |
T |
A |
19: 37,292,383 (GRCm39) |
I271L |
unknown |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,444,141 (GRCm39) |
I1378V |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lhx6 |
T |
C |
2: 35,984,222 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,319,502 (GRCm39) |
G2007D |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,304 (GRCm39) |
K142R |
probably damaging |
Het |
| Macroh2a1 |
C |
G |
13: 56,243,936 (GRCm39) |
|
probably null |
Het |
| Mtrfr |
A |
G |
5: 124,476,954 (GRCm39) |
N83D |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,528 (GRCm39) |
D1402V |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,535,539 (GRCm39) |
I275T |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,116,582 (GRCm39) |
V4131G |
possibly damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,712,934 (GRCm39) |
A83V |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,625 (GRCm39) |
D418G |
probably damaging |
Het |
| Or12e7 |
A |
T |
2: 87,288,138 (GRCm39) |
M210L |
probably benign |
Het |
| Or1n1b |
T |
A |
2: 36,780,056 (GRCm39) |
K268M |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,313 (GRCm39) |
T764A |
probably damaging |
Het |
| Plppr3 |
G |
T |
10: 79,701,220 (GRCm39) |
P541T |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,637,771 (GRCm39) |
I191T |
possibly damaging |
Het |
| Pramel18 |
T |
C |
4: 101,766,436 (GRCm39) |
F40S |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,402 (GRCm39) |
K225E |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,857,185 (GRCm39) |
Q64L |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,126,754 (GRCm39) |
V305M |
probably damaging |
Het |
| Sh2b1 |
A |
C |
7: 126,070,408 (GRCm39) |
F399V |
probably benign |
Het |
| Slc7a4 |
T |
C |
16: 17,393,482 (GRCm39) |
T106A |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,129,795 (GRCm39) |
G539D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,869,974 (GRCm39) |
|
probably null |
Het |
| Zfp267 |
G |
A |
3: 36,216,814 (GRCm39) |
C55Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCCAGAGTAGTGTTCCC -3'
(R):5'- AGTGCCTTCCCATTTCCCAAAG -3'
Sequencing Primer
(F):5'- CCACCGGTGCGTTCTTG -3'
(R):5'- GGAGGTCATTTCTGCCCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation