Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Mrpl2'

680807

Institutional Source

Beutler Lab

Gene Symbol

Mrpl2

Ensembl Gene

ENSMUSG00000002767

Gene Name

mitochondrial ribosomal protein L2

Synonyms

CGI-22, MRP-L14, Rpml14

MMRRC Submission

068711-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R8938 (G1)

Quality Score

183.009

Status

Not validated

Chromosome

Chromosomal Location

46957155-46961065 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 46957238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000003642] [ENSMUST00000043464] [ENSMUST00000113429] [ENSMUST00000113430]

AlphaFold

Q9D773

Predicted Effect

unknown
Transcript: ENSMUST00000002844
AA Change: C4S

SMART Domains

Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: C4S

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

unknown
Transcript: ENSMUST00000113429
AA Change: C4S

SMART Domains

Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767
AA Change: C4S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_L2	84	166	1.1e-31	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000113430
AA Change: C4S

SMART Domains

Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: C4S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,861,424 (GRCm39)	S59P	probably damaging	Het
Abcc8	G	T	7: 45,816,418 (GRCm39)	H241N		Het
Acsm1	T	C	7: 119,258,385 (GRCm39)	S493P	probably damaging	Het
Agtr1a	T	C	13: 30,565,049 (GRCm39)	I38T	probably damaging	Het
Ahnak	T	C	19: 8,989,099 (GRCm39)	I3461T	probably benign	Het
Bbox1	T	A	2: 110,100,529 (GRCm39)	T223S	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cdhr1	T	A	14: 36,809,405 (GRCm39)	T299S	probably benign	Het
Cr2	T	C	1: 194,853,424 (GRCm39)	D18G	probably damaging	Het
Cyp51	T	C	5: 4,150,202 (GRCm39)	I174V	probably benign	Het
Dnah2	A	T	11: 69,328,754 (GRCm39)	Y3290N	probably damaging	Het
Fcho1	T	G	8: 72,169,790 (GRCm39)	K111T	possibly damaging	Het
Firrm	C	T	1: 163,789,541 (GRCm39)	V665I	probably benign	Het
Gli2	A	T	1: 118,763,935 (GRCm39)	D1405E	probably damaging	Het
Gsg1l2	A	G	11: 67,680,399 (GRCm39)	H278R	possibly damaging	Het
H2-K2	T	C	17: 34,216,294 (GRCm39)	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,350,735 (GRCm39)	W5*	probably null	Het
Ighv1-81	T	A	12: 115,883,988 (GRCm39)	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,553,256 (GRCm39)	M19L	probably benign	Het
Klk1b3	G	T	7: 43,849,729 (GRCm39)	W38L	probably damaging	Het
Lama3	T	C	18: 12,689,762 (GRCm39)	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,028,024 (GRCm39)	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,748,454 (GRCm39)	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,270 (GRCm39)	M1L	possibly damaging	Het
Mybpc3	T	C	2: 90,954,294 (GRCm39)	V224A	probably damaging	Het
Nol4l	T	C	2: 153,262,651 (GRCm39)	D63G	probably damaging	Het
Or8g36	A	T	9: 39,422,910 (GRCm39)	Y35*	probably null	Het
Patz1	C	T	11: 3,240,660 (GRCm39)	T16I	probably damaging	Het
Pcdha3	A	G	18: 37,080,154 (GRCm39)	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,623,537 (GRCm39)	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,841,562 (GRCm39)	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,859,955 (GRCm39)	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,016,068 (GRCm39)	W877R	probably benign	Het
Plcg2	T	C	8: 118,231,114 (GRCm39)		probably null	Het
Prp2	C	A	6: 132,577,581 (GRCm39)	H289Q	unknown	Het
Rac2	A	G	15: 78,446,112 (GRCm39)	L192P	probably damaging	Het
Rfx4	T	A	10: 84,675,936 (GRCm39)	Y51N	probably damaging	Het
Rptn	A	T	3: 93,302,332 (GRCm39)	Q16L	possibly damaging	Het
Ryr1	C	T	7: 28,801,358 (GRCm39)	G802D	probably damaging	Het
Shroom3	T	C	5: 93,090,930 (GRCm39)	S1146P	probably damaging	Het
Stam	T	C	2: 14,133,984 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,751,825 (GRCm39)	M623V	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Xkr7	T	C	2: 152,874,133 (GRCm39)	F67L	probably damaging	Het
Zfp451	A	T	1: 33,842,063 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,610,311 (GRCm39)	H471Q	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
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
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'- TTGTTCTTTGGAGAGGCAAGAAAG -3'
(R):5'- CAAAAGCACTTGGAAGCCCG -3'

Sequencing Primer
(F):5'- CAAGAAAGCGTGTATCCTGC -3'
(R):5'- ACTTGGAAGCCCGTATCTGAGATC -3'

Posted On

2021-08-31