Mutagenetix > Incidental Mutation

Incidental Mutation 'R4227:Mrps27'

320104

Institutional Source

Beutler Lab

Gene Symbol

Mrps27

Ensembl Gene

ENSMUSG00000041632

Gene Name

mitochondrial ribosomal protein S27

Synonyms

2610028H14Rik

MMRRC Submission

041047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R4227 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99481294-99552070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 99547848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 253 (P253A)

Ref Sequence

ENSEMBL: ENSMUSP00000062326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]

AlphaFold

Q8BK72

Predicted Effect

probably damaging
Transcript: ENSMUST00000052249
AA Change: P253A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: P253A

Domain	Start	End	E-Value	Type
Pfam:MRP-S27	1	413	8.3e-156	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180808

Predicted Effect

probably benign
Transcript: ENSMUST00000224660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225937

Meta Mutation Damage Score

0.1539

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (56/58)

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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,115,120 (GRCm39)	T609A	probably damaging	Het
Agbl2	T	G	2: 90,631,797 (GRCm39)	L385R	probably damaging	Het
Arfgef2	A	T	2: 166,709,244 (GRCm39)	D1107V	probably damaging	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
B9d1	C	G	11: 61,403,483 (GRCm39)	R160G	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ceacam12	G	T	7: 17,805,678 (GRCm39)	M288I	probably benign	Het
Cfhr3	T	A	1: 139,536,046 (GRCm39)		noncoding transcript	Het
Copa	A	G	1: 171,945,682 (GRCm39)		probably benign	Het
Cypt4	A	G	9: 24,536,788 (GRCm39)	M93V	probably benign	Het
Fat3	G	A	9: 16,288,989 (GRCm39)	T178I	probably damaging	Het
Gm15931	A	G	7: 4,277,793 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,654 (GRCm39)		noncoding transcript	Het
Gpsm1	T	C	2: 26,229,638 (GRCm39)		probably benign	Het
Grhl1	A	G	12: 24,661,850 (GRCm39)	T510A	probably benign	Het
Kcnn3	A	C	3: 89,428,482 (GRCm39)	H236P	possibly damaging	Het
Kif21b	T	A	1: 136,081,831 (GRCm39)		probably null	Het
Lcn3	G	T	2: 25,656,123 (GRCm39)	M59I	probably benign	Het
Mug2	A	T	6: 122,017,691 (GRCm39)	D476V	probably benign	Het
Naca	A	T	10: 127,877,530 (GRCm39)		probably benign	Het
Naip5	A	G	13: 100,349,276 (GRCm39)	S1351P	probably damaging	Het
Odf2	A	G	2: 29,791,296 (GRCm39)		probably benign	Het
Or2a56	A	G	6: 42,932,648 (GRCm39)	Y72C	possibly damaging	Het
Or4g17	A	G	2: 111,209,410 (GRCm39)	K22E	probably benign	Het
Or52ab7	A	T	7: 102,978,026 (GRCm39)	H111L	probably damaging	Het
Or5w18	T	A	2: 87,633,219 (GRCm39)	I162N	probably damaging	Het
P3h2	G	T	16: 25,924,203 (GRCm39)	D77E	probably benign	Het
Pcbp2	A	G	15: 102,387,066 (GRCm39)	M87V	probably benign	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhh2	A	G	17: 84,874,223 (GRCm39)	T503A	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Ptprb	T	C	10: 116,138,130 (GRCm39)	Y345H	possibly damaging	Het
Rasl11b	T	A	5: 74,358,852 (GRCm39)	I119N	probably damaging	Het
Rnaseh2a	G	A	8: 85,686,702 (GRCm39)	T149I	possibly damaging	Het
Serpina10	A	G	12: 103,594,674 (GRCm39)	Y182H	probably damaging	Het
Serpina1d	A	G	12: 103,733,740 (GRCm39)	V188A	probably benign	Het
Setd1a	C	A	7: 127,395,819 (GRCm39)		probably benign	Het
Slc17a8	T	C	10: 89,434,575 (GRCm39)	N184S	probably damaging	Het
Spen	C	T	4: 141,249,458 (GRCm39)	S110N	unknown	Het
Tas1r1	T	C	4: 152,112,729 (GRCm39)	I775V	probably damaging	Het
Tktl2	A	G	8: 66,966,351 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Try5	A	G	6: 41,290,401 (GRCm39)	Y28H	possibly damaging	Het
Urad	A	T	5: 147,252,100 (GRCm39)	F117L	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn2r45	A	T	7: 8,486,277 (GRCm39)	V337E	probably damaging	Het
Vmn2r6	A	T	3: 64,445,369 (GRCm39)	F696L	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp131	T	C	13: 120,228,282 (GRCm39)	D455G	probably damaging	Het

Other mutations in Mrps27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Mrps27	APN	13	99,546,324 (GRCm39)	missense	probably damaging	1.00
IGL01685:Mrps27	APN	13	99,551,428 (GRCm39)	missense	possibly damaging	0.52
P0043:Mrps27	UTSW	13	99,548,754 (GRCm39)	missense	probably benign
R0122:Mrps27	UTSW	13	99,501,736 (GRCm39)	missense	probably benign	0.13
R0502:Mrps27	UTSW	13	99,546,303 (GRCm39)	splice site	probably benign
R0503:Mrps27	UTSW	13	99,546,303 (GRCm39)	splice site	probably benign
R0611:Mrps27	UTSW	13	99,541,582 (GRCm39)	missense	probably damaging	1.00
R1540:Mrps27	UTSW	13	99,541,558 (GRCm39)	missense	probably benign	0.17
R2566:Mrps27	UTSW	13	99,536,836 (GRCm39)	nonsense	probably null
R4235:Mrps27	UTSW	13	99,541,549 (GRCm39)	missense	probably damaging	1.00
R4715:Mrps27	UTSW	13	99,551,323 (GRCm39)	splice site	probably null
R4761:Mrps27	UTSW	13	99,548,739 (GRCm39)	missense	probably benign	0.10
R5114:Mrps27	UTSW	13	99,547,973 (GRCm39)	unclassified	probably benign
R5294:Mrps27	UTSW	13	99,546,381 (GRCm39)	missense	probably damaging	1.00
R6241:Mrps27	UTSW	13	99,548,754 (GRCm39)	missense	probably benign
R6387:Mrps27	UTSW	13	99,536,825 (GRCm39)	missense	possibly damaging	0.80
R6491:Mrps27	UTSW	13	99,499,538 (GRCm39)	missense	probably damaging	1.00
R6992:Mrps27	UTSW	13	99,541,522 (GRCm39)	missense	probably benign	0.16
R7165:Mrps27	UTSW	13	99,551,307 (GRCm39)	missense	possibly damaging	0.89
R7241:Mrps27	UTSW	13	99,547,788 (GRCm39)	nonsense	probably null
R7709:Mrps27	UTSW	13	99,541,504 (GRCm39)	missense	probably benign	0.21
R7720:Mrps27	UTSW	13	99,537,838 (GRCm39)	missense	unknown
R8706:Mrps27	UTSW	13	99,541,508 (GRCm39)	missense	probably damaging	1.00
Z1177:Mrps27	UTSW	13	99,551,351 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AAGCTTCCTTTTAAGGTGTGCG -3'
(R):5'- GCCACACTGAAAATGTTTGTGG -3'

Sequencing Primer
(F):5'- CGTGGTGAGGGTCCTTGCC -3'
(R):5'- ACGGAATAAATACCAATTCTGCAC -3'

Posted On

2015-06-12