Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Mrps5'

436383

Institutional Source

Beutler Lab

Gene Symbol

Mrps5

Ensembl Gene

ENSMUSG00000027374

Gene Name

mitochondrial ribosomal protein S5

Synonyms

MMRRC Submission

043115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5558 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

127429346-127445906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127444355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 330 (G330S)

Ref Sequence

ENSEMBL: ENSMUSP00000028852 (fasta)

Gene Model

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

AlphaFold

Q99N87

Predicted Effect

probably damaging
Transcript: ENSMUST00000028852
AA Change: G330S

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

SMART Domains

Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: G330S

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,192,705 (GRCm39)	K177E	probably damaging	Het
Acvr1	T	C	2: 58,349,029 (GRCm39)	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,630,394 (GRCm39)	V779A	probably benign	Het
Alms1	C	T	6: 85,618,311 (GRCm39)	Q2786*	probably null	Het
Arhgef28	A	C	13: 98,097,968 (GRCm39)	L882R	probably damaging	Het
Cbx2	A	G	11: 118,919,775 (GRCm39)	T447A	probably benign	Het
Ch25h	A	G	19: 34,451,863 (GRCm39)	W222R	probably damaging	Het
Chsy3	T	G	18: 59,309,469 (GRCm39)	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,541,749 (GRCm39)	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,316,063 (GRCm39)	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,622,936 (GRCm39)	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,846,047 (GRCm39)	R359C	probably damaging	Het
Elavl4	C	A	4: 110,063,800 (GRCm39)	G267V	probably benign	Het
Gars1	T	C	6: 55,042,592 (GRCm39)	S442P	probably damaging	Het
Gas6	C	T	8: 13,516,764 (GRCm39)	R578Q	probably null	Het
H4c4	C	A	13: 23,765,779 (GRCm39)	N65K	possibly damaging	Het
Ifitm6	T	C	7: 140,595,985 (GRCm39)	I103V	probably benign	Het
Igsf5	T	A	16: 96,187,731 (GRCm39)	I241N	possibly damaging	Het
Iqce	A	G	5: 140,657,560 (GRCm39)		probably null	Het
Khdc4	A	C	3: 88,600,403 (GRCm39)	H164P	probably damaging	Het
Kif20b	C	A	19: 34,928,949 (GRCm39)	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,662,093 (GRCm39)	N298D	probably benign	Het
Lca5	A	T	9: 83,283,796 (GRCm39)	S246T	probably damaging	Het
Myh15	C	T	16: 48,889,900 (GRCm39)	R164C	probably benign	Het
Myo19	C	G	11: 84,801,274 (GRCm39)	P940R	probably damaging	Het
Or10j7	T	C	1: 173,011,585 (GRCm39)	R139G	probably benign	Het
Or5b12b	T	C	19: 12,861,751 (GRCm39)	F169L	probably benign	Het
Pcdh10	A	G	3: 45,338,603 (GRCm39)	D920G	probably damaging	Het
Pgm5	A	T	19: 24,801,815 (GRCm39)		probably null	Het
Phactr4	T	C	4: 132,105,766 (GRCm39)	E137G	probably damaging	Het
Pkn1	C	T	8: 84,411,351 (GRCm39)	V239M	probably damaging	Het
Plcz1	T	A	6: 139,985,481 (GRCm39)	D20V	probably damaging	Het
Prkca	A	T	11: 107,872,473 (GRCm39)	I429N	probably damaging	Het
Ptk2	A	T	15: 73,176,294 (GRCm39)	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,280,271 (GRCm39)	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,642,003 (GRCm39)	E932V	probably damaging	Het
Rilp	A	G	11: 75,402,251 (GRCm39)	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,616,025 (GRCm39)	I474T	probably benign	Het
Slc14a2	T	A	18: 78,202,381 (GRCm39)	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,528,903 (GRCm39)	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,577,321 (GRCm39)	V326I	probably benign	Het
Slco1c1	C	T	6: 141,513,222 (GRCm39)	T617I	probably damaging	Het
Sntg1	A	G	1: 8,484,495 (GRCm39)	S442P	possibly damaging	Het
Sys1	G	T	2: 164,306,429 (GRCm39)	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmed5	A	G	5: 108,272,462 (GRCm39)	I212T	probably benign	Het
Tnks	T	C	8: 35,432,819 (GRCm39)	M1V	probably null	Het
Trpa1	T	C	1: 14,968,492 (GRCm39)	H452R	probably damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Ttn	T	A	2: 76,555,395 (GRCm39)	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,530,024 (GRCm39)	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,587,329 (GRCm39)	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,368,402 (GRCm39)	S278C	probably benign	Het
Wdpcp	G	A	11: 21,661,732 (GRCm39)	A335T	probably benign	Het
Zc3h18	G	T	8: 123,113,659 (GRCm39)	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp955b	C	T	17: 33,521,161 (GRCm39)	T210I	possibly damaging	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
R2182:Mrps5	UTSW	2	127,444,407 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAATCACATGGCTTCTGTTTGTGG -3'
(R):5'- TAACAGATGAGAGCCCTGGG -3'

Sequencing Primer
(F):5'- CTTCTGTTTGTGGCTTGTGTTGC -3'
(R):5'- CAGATGAGAGCCCTGGGTTGTC -3'

Posted On

2016-10-24