Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Msra'

563780

Institutional Source

Beutler Lab

Gene Symbol

Msra

Ensembl Gene

ENSMUSG00000054733

Gene Name

methionine sulfoxide reductase A

Synonyms

2310045J23Rik, 6530413P12Rik, MSR-A

MMRRC Submission

045312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7249 (G1)

Quality Score

172.009

Status

Not validated

Chromosome

Chromosomal Location

64360074-64693352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64678212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000065754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067927]

AlphaFold

Q9D6Y7

PDB Structure

Solution structure of murine myristoylated msrA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000067927
AA Change: V28A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065754
Gene: ENSMUSG00000054733
AA Change: V28A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:PMSR	65	219	2.4e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this allele display an increased sensitivity to oxidative stress, reductions in related enzyme levels, and reduced life spans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,974,970 (GRCm39)	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,385,271 (GRCm39)	S231R	possibly damaging	Het
Abi1	T	C	2: 22,847,101 (GRCm39)	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,553,347 (GRCm39)	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,522,378 (GRCm39)	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,438,299 (GRCm39)	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,577,767 (GRCm39)	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,506,583 (GRCm39)	D847E	possibly damaging	Het
Cacna1d	T	C	14: 29,864,660 (GRCm39)	E434G	probably damaging	Het
Carm1	T	C	9: 21,497,505 (GRCm39)	Y356H	probably benign	Het
Clip1	T	C	5: 123,741,663 (GRCm39)	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 126,886,918 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,113,885 (GRCm39)	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,035,336 (GRCm39)	Q28*	probably null	Het
Dpp4	A	G	2: 62,215,547 (GRCm39)	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Faap24	A	G	7: 35,094,485 (GRCm39)	V105A	probably benign	Het
Gabra6	A	T	11: 42,208,259 (GRCm39)	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,033,126 (GRCm39)	E117G	probably damaging	Het
H2-T10	T	C	17: 36,430,269 (GRCm39)	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,793,865 (GRCm39)	E332V	probably benign	Het
Htr5b	T	A	1: 121,438,203 (GRCm39)	N343Y	probably damaging	Het
Irf8	C	A	8: 121,466,571 (GRCm39)	N5K	possibly damaging	Het
Itgb1	C	A	8: 129,446,885 (GRCm39)	Q467K	probably benign	Het
Itpr2	C	A	6: 146,212,550 (GRCm39)	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,025,596 (GRCm39)	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,629,133 (GRCm39)	R493L	probably benign	Het
Malrd1	G	T	2: 15,628,151 (GRCm39)	C400F	probably damaging	Het
Marchf8	G	A	6: 116,383,195 (GRCm39)	E257K	probably benign	Het
Mastl	G	A	2: 23,036,151 (GRCm39)	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,523,202 (GRCm39)	K98R	possibly damaging	Het
Mtmr7	A	G	8: 41,043,520 (GRCm39)	V177A	probably benign	Het
Nelfcd	T	C	2: 174,264,999 (GRCm39)		probably null	Het
Nemp1	T	C	10: 127,529,395 (GRCm39)	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,554,099 (GRCm39)	T147I	probably null	Het
Ntng2	A	G	2: 29,118,004 (GRCm39)	V148A	probably benign	Het
Nup214	A	G	2: 31,878,245 (GRCm39)	H304R	possibly damaging	Het
Or4a2	T	C	2: 89,248,217 (GRCm39)	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,621,977 (GRCm39)	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkn3	G	A	2: 29,974,773 (GRCm39)	R429Q	probably benign	Het
Plcb4	A	G	2: 135,849,741 (GRCm39)		probably null	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnp	G	A	14: 51,188,887 (GRCm39)	V227I	probably benign	Het
Pskh1	T	C	8: 106,639,886 (GRCm39)	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,556,632 (GRCm39)	V24G	probably damaging	Het
Robo3	T	A	9: 37,336,129 (GRCm39)	I446L	probably benign	Het
Septin8	A	T	11: 53,425,949 (GRCm39)	K174I	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slco4a1	A	G	2: 180,106,604 (GRCm39)	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,784,512 (GRCm39)	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,132,193 (GRCm39)	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270 (GRCm39)	V381A	probably benign	Het
Svil	T	C	18: 5,062,247 (GRCm39)	S769P	probably damaging	Het
Tep1	A	T	14: 51,061,732 (GRCm39)	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,640,143 (GRCm39)	Y858C	probably damaging	Het
Tie1	A	G	4: 118,343,425 (GRCm39)	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,455,361 (GRCm39)	E578D	probably damaging	Het
Trim23	A	G	13: 104,324,663 (GRCm39)	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,826,729 (GRCm39)	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,461,125 (GRCm39)	S2P	probably benign	Het
Xkr4	T	A	1: 3,287,033 (GRCm39)	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,928,889 (GRCm39)	V38G	possibly damaging	Het

Other mutations in Msra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Msra	APN	14	64,360,774 (GRCm39)	missense	probably damaging	0.99
IGL01301:Msra	APN	14	64,447,884 (GRCm39)	missense	probably damaging	1.00
IGL02500:Msra	APN	14	64,522,637 (GRCm39)	splice site	probably benign
IGL03227:Msra	APN	14	64,551,192 (GRCm39)	missense	probably benign	0.06
ANU18:Msra	UTSW	14	64,447,884 (GRCm39)	missense	probably damaging	1.00
R0485:Msra	UTSW	14	64,678,210 (GRCm39)	missense	possibly damaging	0.64
R0632:Msra	UTSW	14	64,447,981 (GRCm39)	missense	probably benign	0.04
R1557:Msra	UTSW	14	64,360,775 (GRCm39)	missense	possibly damaging	0.75
R1940:Msra	UTSW	14	64,522,505 (GRCm39)	splice site	probably benign
R2133:Msra	UTSW	14	64,471,377 (GRCm39)	missense	probably damaging	1.00
R2135:Msra	UTSW	14	64,360,657 (GRCm39)	missense	probably damaging	1.00
R6119:Msra	UTSW	14	64,678,183 (GRCm39)	missense	probably damaging	1.00
R6602:Msra	UTSW	14	64,360,788 (GRCm39)	missense	probably benign	0.01
R7233:Msra	UTSW	14	64,360,714 (GRCm39)	missense	probably damaging	1.00
R8047:Msra	UTSW	14	64,522,612 (GRCm39)	missense	probably damaging	1.00
R9271:Msra	UTSW	14	64,471,269 (GRCm39)	splice site	probably null
R9411:Msra	UTSW	14	64,471,331 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TTCTTTGCGCACGCGTAGAC -3'
(R):5'- GTTGAGTGAGTACATCGCACCC -3'

Sequencing Primer
(F):5'- TAGACTCCGACCTGGGACC -3'
(R):5'- AGCCAGCATCAATTTTGGC -3'

Posted On

2019-06-26