Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Mrps5'

546821

Institutional Source

Beutler Lab

Gene Symbol

Mrps5

Ensembl Gene

ENSMUSG00000027374

Gene Name

mitochondrial ribosomal protein S5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127587222-127606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127600866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 285 (E285G)

Ref Sequence

ENSEMBL: ENSMUSP00000028852 (fasta)

Gene Model

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

AlphaFold

Q99N87

Predicted Effect

probably damaging
Transcript: ENSMUST00000028852
AA Change: E285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: E285G

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

Meta Mutation Damage Score

0.6262

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,110,311	F85L	probably benign	Het
2010111I01Rik	G	T	13: 63,190,525	V571F	possibly damaging	Het
Abl2	T	C	1: 156,641,409	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,089,111	D104G	probably damaging	Het
Als2	C	A	1: 59,167,514	W1590L	possibly damaging	Het
Aplf	C	T	6: 87,653,823	W210*	probably null	Het
Ash1l	A	T	3: 88,982,671	H619L	probably benign	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,202,669	V19F	probably damaging	Het
Capn1	A	T	19: 6,014,319	L50Q	probably benign	Het
Carmil1	A	G	13: 24,139,335	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479	H308R	probably benign	Het
Cd4	C	T	6: 124,870,254	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,173,597	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,332,989	I343T	probably benign	Het
Cgn	T	G	3: 94,763,085	T1021P	possibly damaging	Het
Col6a5	A	G	9: 105,945,738	V140A	unknown	Het
Cops8	T	C	1: 90,603,598		probably benign	Het
Crhbp	A	G	13: 95,444,191	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,287,127	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,535,471	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 24,893,408	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,023,373	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,276,532	C465*	probably null	Het
Dst	C	A	1: 34,182,798	S2561*	probably null	Het
Dstyk	T	C	1: 132,454,109	S534P	probably benign	Het
Eif4e	A	G	3: 138,527,182		probably benign	Het
Eipr1	C	T	12: 28,751,818		probably benign	Het
Fastkd2	T	A	1: 63,731,873	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,501,469	G312D	probably benign	Het
Gab2	T	A	7: 97,303,083	I562N	probably damaging	Het
Gata5	C	A	2: 180,333,892	D160Y	possibly damaging	Het
Gcn1l1	G	A	5: 115,611,144	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,944,735	Q107H	probably damaging	Het
Gdpd1	A	G	11: 87,035,292	Y276H	probably damaging	Het
Gins1	A	G	2: 150,917,871	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,853,599	C107R	probably damaging	Het
Hadha	T	C	5: 30,120,000		probably null	Het
Hcn4	A	T	9: 58,823,584	I25F	unknown	Het
Hectd4	A	G	5: 121,299,597	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,695,866	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,804,700	V351A	probably damaging	Het
Htr1b	T	A	9: 81,632,243	M104L	probably benign	Het
Ick	C	T	9: 78,109,202		probably benign	Het
Igf2r	T	C	17: 12,698,325	T1563A	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Liph	A	T	16: 21,976,259	V201E	probably damaging	Het
Ltn1	T	C	16: 87,424,871	D196G	probably damaging	Het
Med15	C	T	16: 17,652,727	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,857,110	D26G	probably damaging	Het
Mpi	T	C	9: 57,545,217	D344G	probably damaging	Het
Mrc2	A	G	11: 105,332,236	E435G	possibly damaging	Het
Muc16	T	A	9: 18,620,468	M6197L	probably damaging	Het
Myo3b	A	T	2: 70,095,208	E34D	probably benign	Het
Nsd3	T	C	8: 25,641,263	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,496,830		probably benign	Het
Ntan1	T	C	16: 13,826,910	S37P	probably benign	Het
Nup210l	T	A	3: 90,159,947	Y765N	probably damaging	Het
Olfr1193	A	T	2: 88,678,741	R288S	probably damaging	Het
Olfr1495	A	T	19: 13,768,351	D3V	probably benign	Het
Olfr223	T	C	11: 59,589,582	Y169C	possibly damaging	Het
Olfr849	A	C	9: 19,441,592	L226F	possibly damaging	Het
Pald1	T	C	10: 61,339,299	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,342,204	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,800,760	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,234,361	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676	H172N	probably damaging	Het
Plch2	G	C	4: 154,990,032		probably null	Het
Plxnb1	T	A	9: 109,100,385	V103E	probably damaging	Het
Prpf8	T	A	11: 75,496,158	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,459,825	M1K	probably null	Het
Rasgrf2	G	A	13: 91,982,833	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,609,725	H125Q	probably benign	Het
Sdad1	A	G	5: 92,298,190		probably null	Het
Sf3a3	T	A	4: 124,728,426	F426L	probably benign	Het
Sgsm3	T	C	15: 81,008,375	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,159,037	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,600,221	N165S	probably benign	Het
Slc41a1	C	A	1: 131,842,057	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,390,514	P271Q	probably damaging	Het
Spag17	C	A	3: 99,984,609	H260N	probably benign	Het
Spata2	A	T	2: 167,485,363	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Syt14	T	A	1: 192,983,658		probably benign	Het
Tbx21	A	G	11: 97,099,771	S329P	probably damaging	Het
Tex2	A	T	11: 106,511,900		probably null	Het
Tmem62	A	G	2: 120,993,577	I244M	possibly damaging	Het
Tnks	A	T	8: 34,851,636	N830K	probably damaging	Het
Tox2	A	G	2: 163,314,344	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,585,277	D7G	probably damaging	Het
Ttc28	T	A	5: 111,266,579	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,805,366	V270G	probably damaging	Het
Unc5a	A	G	13: 55,004,484	R62G	probably damaging	Het
Unc5d	A	G	8: 28,715,721		probably null	Het
Utrn	T	C	10: 12,682,338	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,505,001	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,760,420	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,866,309	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,561,857	V377A	probably damaging	Het
Zfp457	G	A	13: 67,293,933	H97Y	probably benign	Het
Zfp467	T	C	6: 48,438,138	T527A	probably damaging	Het

Other mutations in Mrps5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Mrps5	APN	2	127591907	missense	probably null	0.01
IGL03348:Mrps5	APN	2	127601385	missense	probably damaging	0.98
R0369:Mrps5	UTSW	2	127591829	missense	probably benign	0.09
R0485:Mrps5	UTSW	2	127591825	missense	possibly damaging	0.56
R0622:Mrps5	UTSW	2	127594531	missense	probably benign	0.00
R1954:Mrps5	UTSW	2	127596897	splice site	probably null
R2182:Mrps5	UTSW	2	127602487	missense	probably damaging	1.00
R3414:Mrps5	UTSW	2	127596912	missense	probably benign	0.38
R4007:Mrps5	UTSW	2	127591835	missense	possibly damaging	0.81
R4687:Mrps5	UTSW	2	127590770	missense	probably benign	0.44
R4780:Mrps5	UTSW	2	127598241	missense	probably benign	0.00
R4835:Mrps5	UTSW	2	127603707	missense	possibly damaging	0.84
R4851:Mrps5	UTSW	2	127590745	missense	probably benign	0.00
R5076:Mrps5	UTSW	2	127600852	nonsense	probably null
R5558:Mrps5	UTSW	2	127602435	missense	probably damaging	1.00
R6192:Mrps5	UTSW	2	127601385	missense	probably damaging	0.98
R7071:Mrps5	UTSW	2	127600852	nonsense	probably null
R7103:Mrps5	UTSW	2	127601410	missense	probably damaging	0.99
R7177:Mrps5	UTSW	2	127595697	missense	probably benign
R7319:Mrps5	UTSW	2	127595842	missense	possibly damaging	0.94
R7387:Mrps5	UTSW	2	127600884	missense	probably damaging	1.00
R7460:Mrps5	UTSW	2	127591891	missense	not run
R8211:Mrps5	UTSW	2	127603724	missense	probably benign
R9052:Mrps5	UTSW	2	127591956	splice site	probably benign
R9358:Mrps5	UTSW	2	127595814	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- ACCCTGACTTAAAGGTTGAACC -3'
(R):5'- AATGACACGGTCTGCAGTGG -3'

Sequencing Primer
(F):5'- CCTAGAACTCAGTATGTAGACCAGG -3'
(R):5'- TGGCCACACACCTGCAG -3'

Posted On

2019-05-13