Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Mrpl2'

392518

Institutional Source

Beutler Lab

Gene Symbol

Mrpl2

Ensembl Gene

ENSMUSG00000002767

Gene Name

mitochondrial ribosomal protein L2

Synonyms

CGI-22, MRP-L14, Rpml14

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	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
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
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'- ACCCAGAGTAGTGTTCCCAAC -3'
(R):5'- AGTGCCTTCCCATTTCCCAAAG -3'

Sequencing Primer
(F):5'- CCACCGGTGCGTTCTTG -3'
(R):5'- GGAGGTCATTTCTGCCCC -3'

Posted On

2016-06-15