Mutagenetix > Incidental Mutation

Incidental Mutation 'R9171:Mrpl22'

696417

Institutional Source

Beutler Lab

Gene Symbol

Mrpl22

Ensembl Gene

ENSMUSG00000020514

Gene Name

mitochondrial ribosomal protein L22

Synonyms

HSPC158, E030011D16Rik, Rpml25, MRP-L25

MMRRC Submission

068976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58062487-58070391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58070185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 164 (V164A)

Ref Sequence

ENSEMBL: ENSMUSP00000020820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020820]

AlphaFold

Q8BU88

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020820
AA Change: V164A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514
AA Change: V164A

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L22	70	173	6.8e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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 L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	A	15: 41,732,512 (GRCm39)	T185S	possibly damaging	Het
Acad10	T	A	5: 121,767,981 (GRCm39)	H823L	probably benign	Het
Acly	A	G	11: 100,407,657 (GRCm39)	V231A	probably benign	Het
Adamts9	T	C	6: 92,849,381 (GRCm39)	N1026S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd65	A	G	4: 155,875,800 (GRCm39)	E7G	probably benign	Het
Ap1g2	T	C	14: 55,336,581 (GRCm39)	H771R	probably benign	Het
Atp9a	A	G	2: 168,485,780 (GRCm39)		probably null	Het
Atxn10	T	G	15: 85,277,557 (GRCm39)	H341Q	probably damaging	Het
Cacng1	A	G	11: 107,607,060 (GRCm39)	L53P	probably damaging	Het
Cdh23	T	C	10: 60,161,810 (GRCm39)	N2014S	probably benign	Het
Cma1	T	C	14: 56,181,189 (GRCm39)	N72S	probably benign	Het
Col7a1	G	A	9: 108,807,953 (GRCm39)	G2551D	unknown	Het
Cyp20a1	T	G	1: 60,415,343 (GRCm39)	L323R	probably damaging	Het
Dnah11	A	T	12: 117,894,918 (GRCm39)	V3643E	probably damaging	Het
Dnmt3l	A	C	10: 77,895,518 (GRCm39)	D352A	probably benign	Het
Dock2	A	T	11: 34,589,670 (GRCm39)	N462K	probably benign	Het
Drc1	A	G	5: 30,513,794 (GRCm39)	Q450R	probably benign	Het
Drgx	C	T	14: 32,330,339 (GRCm39)	S152F	probably damaging	Het
Efcab3	A	G	11: 104,800,708 (GRCm39)	T2977A	probably benign	Het
Eid3	C	T	10: 82,703,316 (GRCm39)	T259M	probably damaging	Het
Eif2ak3	T	G	6: 70,835,419 (GRCm39)	D115E	probably damaging	Het
Ezh2	A	C	6: 47,531,134 (GRCm39)	D183E	probably benign	Het
Fam114a1	A	C	5: 65,191,713 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,891,607 (GRCm39)	T385I	probably benign	Het
Gm6882	C	A	7: 21,161,254 (GRCm39)	E205*	probably null	Het
Hexim2	G	A	11: 103,029,822 (GRCm39)	W291*	probably null	Het
Hnrnpab	A	C	11: 51,492,710 (GRCm39)	S265R	unknown	Het
Hsd17b1	A	G	11: 100,969,832 (GRCm39)	N115D	probably damaging	Het
Ighmbp2	T	C	19: 3,315,641 (GRCm39)	D593G	possibly damaging	Het
Inf2	C	A	12: 112,567,965 (GRCm39)	C172*	probably null	Het
Invs	A	T	4: 48,398,149 (GRCm39)	N445I	possibly damaging	Het
Izumo2	A	G	7: 44,369,184 (GRCm39)	Q186R	probably benign	Het
Kcnj15	T	C	16: 95,097,481 (GRCm39)	F368L	probably benign	Het
Kctd20	A	G	17: 29,185,866 (GRCm39)	D403G	probably damaging	Het
Kmt2c	A	C	5: 25,486,309 (GRCm39)	V4748G	probably damaging	Het
Lrrc37a	A	G	11: 103,393,140 (GRCm39)	S762P	probably benign	Het
Man2c1	C	T	9: 57,044,317 (GRCm39)	Q324*	probably null	Het
Mgam	A	G	6: 40,745,146 (GRCm39)	I1804M	possibly damaging	Het
Mmp28	A	G	11: 83,335,661 (GRCm39)	V279A	probably benign	Het
Obscn	A	T	11: 58,952,329 (GRCm39)	H3913Q	possibly damaging	Het
Or6e1	T	C	14: 54,520,329 (GRCm39)	T8A	probably benign	Het
Or8g50	C	T	9: 39,648,516 (GRCm39)	T135I	probably benign	Het
Paqr6	A	G	3: 88,273,066 (GRCm39)	T46A	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,178,550 (GRCm39)	D1789G	probably benign	Het
Pou4f2	T	C	8: 79,162,748 (GRCm39)	T96A	probably benign	Het
Ppp1r12b	A	T	1: 134,801,725 (GRCm39)	V497E	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Rsph4a	C	T	10: 33,785,438 (GRCm39)	Q450*	probably null	Het
Sh3d19	C	T	3: 85,990,918 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,687 (GRCm39)	T259A	probably benign	Het
Snap91	T	C	9: 86,680,672 (GRCm39)	T404A	probably benign	Het
Sptbn4	A	T	7: 27,141,844 (GRCm39)	C50S	possibly damaging	Het
Stx8	A	C	11: 67,875,471 (GRCm39)	N99H	possibly damaging	Het
Tgfbi	A	T	13: 56,773,526 (GRCm39)	M175L	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tle1	A	T	4: 72,043,232 (GRCm39)	C536S	possibly damaging	Het
Tprn	A	G	2: 25,152,799 (GRCm39)	S34G	probably benign	Het
Vmn1r80	A	T	7: 11,927,124 (GRCm39)	D78V	possibly damaging	Het

Other mutations in Mrpl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Mrpl22	APN	11	58,062,670 (GRCm39)	critical splice donor site	probably null
IGL02081:Mrpl22	APN	11	58,062,647 (GRCm39)	missense	probably benign
IGL02484:Mrpl22	APN	11	58,063,888 (GRCm39)	missense	possibly damaging	0.81
R0164:Mrpl22	UTSW	11	58,062,647 (GRCm39)	missense	probably benign
R0164:Mrpl22	UTSW	11	58,062,647 (GRCm39)	missense	probably benign
R4222:Mrpl22	UTSW	11	58,062,693 (GRCm39)	unclassified	probably benign
R4489:Mrpl22	UTSW	11	58,063,928 (GRCm39)	missense	probably benign	0.17
R5718:Mrpl22	UTSW	11	58,068,109 (GRCm39)	missense	probably benign
R6650:Mrpl22	UTSW	11	58,066,134 (GRCm39)	missense	probably damaging	1.00
R8407:Mrpl22	UTSW	11	58,066,156 (GRCm39)	nonsense	probably null
R9641:Mrpl22	UTSW	11	58,068,047 (GRCm39)	missense	probably damaging	1.00
X0060:Mrpl22	UTSW	11	58,070,176 (GRCm39)	missense	probably damaging	0.99
Z1186:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1187:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1188:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1189:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1190:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1191:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1192:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAGACTTGTGTTTGAGAGGAC -3'
(R):5'- ATATACACCGTGGAGCCAGG -3'

Sequencing Primer
(F):5'- AGGACTGTGTGCTTGCCAAC -3'
(R):5'- GGATGACCTGCACAGATCTCATAG -3'

Posted On

2022-02-07