Mutagenetix > Incidental Mutation

Incidental Mutation 'R2182:Mrps5'

237221

Institutional Source

Beutler Lab

Gene Symbol

Mrps5

Ensembl Gene

ENSMUSG00000027374

Gene Name

mitochondrial ribosomal protein S5

Synonyms

MMRRC Submission

040184-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2182 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

127429346-127445906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127444407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 347 (L347P)

Ref Sequence

ENSEMBL: ENSMUSP00000028852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028852]

AlphaFold

Q99N87

Predicted Effect

probably damaging
Transcript: ENSMUST00000028852
AA Change: L347P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: L347P

Domain	Start	End	E-Value	Type
low complexity region	108	126	N/A	INTRINSIC
Pfam:Ribosomal_S5	220	285	3.5e-20	PFAM
Pfam:Ribosomal_S5_C	297	368	4.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145271

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,334,243 (GRCm39)	H17R	probably damaging	Het
Abca15	G	A	7: 119,939,450 (GRCm39)	W281*	probably null	Het
Aloxe3	G	A	11: 69,020,426 (GRCm39)	V157M	possibly damaging	Het
Arhgap26	G	T	18: 39,490,862 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,504,563 (GRCm39)	N698S	probably damaging	Het
Clec4a4	A	G	6: 122,990,716 (GRCm39)		probably null	Het
Clgn	C	T	8: 84,137,039 (GRCm39)	T252I	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,571 (GRCm39)	N179Y	probably damaging	Het
D630045J12Rik	C	T	6: 38,151,082 (GRCm39)		probably null	Het
Dennd5a	G	T	7: 109,533,201 (GRCm39)	R190S	probably benign	Het
Dtx4	C	A	19: 12,460,471 (GRCm39)	G384V	probably null	Het
Dxo	T	C	17: 35,057,868 (GRCm39)	V191A	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fntb	A	G	12: 76,909,309 (GRCm39)	N99S	probably benign	Het
Gm5773	T	A	3: 93,680,820 (GRCm39)	I164K	probably benign	Het
Golm2	A	G	2: 121,697,909 (GRCm39)	D75G	probably damaging	Het
Hyal5	T	C	6: 24,877,879 (GRCm39)	I325T	probably damaging	Het
Igsf8	G	A	1: 172,118,295 (GRCm39)		probably null	Het
Lamc2	A	G	1: 153,002,612 (GRCm39)	V17A	possibly damaging	Het
Lpxn	T	C	19: 12,810,122 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,386,464 (GRCm39)	V1296A	probably damaging	Het
Mpdz	A	T	4: 81,266,959 (GRCm39)	L318Q	probably damaging	Het
Mpl	T	A	4: 118,314,610 (GRCm39)	Q13L	probably benign	Het
Mpnd	A	G	17: 56,322,964 (GRCm39)	S399G	probably benign	Het
Naip1	T	A	13: 100,550,188 (GRCm39)	Q1217H	probably benign	Het
Nav2	G	A	7: 49,247,002 (GRCm39)	V2176I	probably benign	Het
Obi1	A	G	14: 104,743,612 (GRCm39)	S156P	possibly damaging	Het
Or13p3	T	C	4: 118,567,542 (GRCm39)	*313R	probably null	Het
Or7g33	T	C	9: 19,448,638 (GRCm39)	N196S	probably benign	Het
Or8b43	A	G	9: 38,360,420 (GRCm39)	N84S	probably benign	Het
Or8g36	A	T	9: 39,422,722 (GRCm39)	M98K	probably damaging	Het
Pbx2	C	A	17: 34,814,640 (GRCm39)	Y324*	probably null	Het
Pcsk7	T	A	9: 45,839,917 (GRCm39)	C702S	probably benign	Het
Pramel11	T	A	4: 143,623,760 (GRCm39)	H138L	possibly damaging	Het
Rictor	T	C	15: 6,801,685 (GRCm39)	S458P	probably damaging	Het
Scaf4	T	C	16: 90,027,028 (GRCm39)	M905V	probably benign	Het
Scarf2	T	C	16: 17,620,886 (GRCm39)	C185R	probably damaging	Het
Scd1	T	G	19: 44,391,732 (GRCm39)	I101L	probably benign	Het
Slc6a2	A	G	8: 93,687,876 (GRCm39)	M1V	probably null	Het
Sost	T	C	11: 101,854,676 (GRCm39)	Y211C	probably damaging	Het
Sphkap	A	G	1: 83,254,405 (GRCm39)	S828P	probably damaging	Het
Tnn	T	C	1: 159,968,170 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,745,816 (GRCm39)	K1319R	unknown	Het
Vmn2r60	A	G	7: 41,844,931 (GRCm39)	T765A	probably benign	Het
Vmn2r91	C	A	17: 18,325,691 (GRCm39)	T103K	possibly damaging	Het
Zbtb44	T	C	9: 30,977,972 (GRCm39)	C429R	possibly damaging	Het
Zc3h4	G	A	7: 16,156,441 (GRCm39)	G327D	unknown	Het
Zfp292	A	G	4: 34,807,417 (GRCm39)	C1876R	probably damaging	Het
Zfp839	C	T	12: 110,834,772 (GRCm39)	L676F	probably damaging	Het
Zg16	A	G	7: 126,649,544 (GRCm39)	L139P	probably damaging	Het
Zscan12	A	G	13: 21,552,961 (GRCm39)	I262V	probably benign	Het

Other mutations in Mrps5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Mrps5	APN	2	127,433,827 (GRCm39)	missense	probably null	0.01
IGL03348:Mrps5	APN	2	127,443,305 (GRCm39)	missense	probably damaging	0.98
R0369:Mrps5	UTSW	2	127,433,749 (GRCm39)	missense	probably benign	0.09
R0485:Mrps5	UTSW	2	127,433,745 (GRCm39)	missense	possibly damaging	0.56
R0622:Mrps5	UTSW	2	127,436,451 (GRCm39)	missense	probably benign	0.00
R1954:Mrps5	UTSW	2	127,438,817 (GRCm39)	splice site	probably null
R3414:Mrps5	UTSW	2	127,438,832 (GRCm39)	missense	probably benign	0.38
R4007:Mrps5	UTSW	2	127,433,755 (GRCm39)	missense	possibly damaging	0.81
R4687:Mrps5	UTSW	2	127,432,690 (GRCm39)	missense	probably benign	0.44
R4780:Mrps5	UTSW	2	127,440,161 (GRCm39)	missense	probably benign	0.00
R4835:Mrps5	UTSW	2	127,445,627 (GRCm39)	missense	possibly damaging	0.84
R4851:Mrps5	UTSW	2	127,432,665 (GRCm39)	missense	probably benign	0.00
R5076:Mrps5	UTSW	2	127,442,772 (GRCm39)	nonsense	probably null
R5558:Mrps5	UTSW	2	127,444,355 (GRCm39)	missense	probably damaging	1.00
R6192:Mrps5	UTSW	2	127,443,305 (GRCm39)	missense	probably damaging	0.98
R7038:Mrps5	UTSW	2	127,442,786 (GRCm39)	missense	probably damaging	1.00
R7071:Mrps5	UTSW	2	127,442,772 (GRCm39)	nonsense	probably null
R7103:Mrps5	UTSW	2	127,443,330 (GRCm39)	missense	probably damaging	0.99
R7177:Mrps5	UTSW	2	127,437,617 (GRCm39)	missense	probably benign
R7319:Mrps5	UTSW	2	127,437,762 (GRCm39)	missense	possibly damaging	0.94
R7387:Mrps5	UTSW	2	127,442,804 (GRCm39)	missense	probably damaging	1.00
R7460:Mrps5	UTSW	2	127,433,811 (GRCm39)	missense	not run
R8211:Mrps5	UTSW	2	127,445,644 (GRCm39)	missense	probably benign
R9052:Mrps5	UTSW	2	127,433,876 (GRCm39)	splice site	probably benign
R9358:Mrps5	UTSW	2	127,437,734 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AATGCAGAGGTCAGAGCCAC -3'
(R):5'- CTGAGCTAGTTGCAACTATGACC -3'

Sequencing Primer
(F):5'- GTCAGAGCCACATGAAAGACAGC -3'
(R):5'- TTTCTAACAGATGAGAGCCCTGG -3'

Posted On

2014-10-02