Mutagenetix > Incidental Mutation

Incidental Mutation 'R2135:Msra'

235748

Institutional Source

Beutler Lab

Gene Symbol

Msra

Ensembl Gene

ENSMUSG00000054733

Gene Name

methionine sulfoxide reductase A

Synonyms

2310045J23Rik, 6530413P12Rik, MSR-A

MMRRC Submission

040138-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64360074-64693352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64360657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 228 (P228L)

Ref Sequence

ENSEMBL: ENSMUSP00000065754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067927] [ENSMUST00000210363] [ENSMUST00000210428]

AlphaFold

Q9D6Y7

PDB Structure

Solution structure of murine myristoylated msrA [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067927
AA Change: P228L

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

SMART Domains

Protein: ENSMUSP00000065754
Gene: ENSMUSG00000054733
AA Change: P228L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210363
AA Change: P164L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210428
AA Change: P186L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225122

Meta Mutation Damage Score

0.7270

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,509 (GRCm39)	H116Q	probably benign	Het
Adamts16	C	A	13: 70,949,126 (GRCm39)	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,672,676 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,114,509 (GRCm39)	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,032,498 (GRCm39)	L253P	probably damaging	Het
Arap3	T	C	18: 38,107,509 (GRCm39)	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,403,712 (GRCm39)	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,868,760 (GRCm39)	I574N	probably damaging	Het
Cecr2	C	T	6: 120,697,923 (GRCm39)	T74M	probably damaging	Het
Ces5a	C	A	8: 94,226,369 (GRCm39)	E481D	probably benign	Het
Cfap74	C	G	4: 155,514,397 (GRCm39)	N544K	probably damaging	Het
Cfap74	T	A	4: 155,514,408 (GRCm39)	L548Q	probably damaging	Het
Cfb	C	T	17: 35,076,254 (GRCm39)	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,845,433 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,123,604 (GRCm39)	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,429 (GRCm39)		probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Ermp1	T	C	19: 29,623,465 (GRCm39)	D119G	possibly damaging	Het
Ext1	G	T	15: 52,965,140 (GRCm39)	Q409K	possibly damaging	Het
Fat4	A	T	3: 39,034,882 (GRCm39)	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,941,771 (GRCm39)	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,583 (GRCm39)	T305A	probably benign	Het
Gbx1	G	T	5: 24,731,220 (GRCm39)	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,044,638 (GRCm39)	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,700,726 (GRCm39)	D572V	probably damaging	Het
Idh1	A	C	1: 65,201,078 (GRCm39)	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,356,551 (GRCm39)	Y330C	probably damaging	Het
Kdm4a	A	G	4: 117,999,656 (GRCm39)	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,215 (GRCm39)	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,070,609 (GRCm39)	S96P	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Marchf6	A	T	15: 31,509,910 (GRCm39)	C26*	probably null	Het
Mycbp2	A	T	14: 103,383,378 (GRCm39)	D395E	probably benign	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,343,756 (GRCm39)		probably benign	Het
Nkd1	T	C	8: 89,318,278 (GRCm39)	I201T	probably benign	Het
Nsrp1	A	T	11: 76,945,834 (GRCm39)		probably benign	Het
Or2t48	A	C	11: 58,420,611 (GRCm39)	I67S	probably damaging	Het
Or7e177	T	A	9: 20,211,593 (GRCm39)	D32E	probably benign	Het
Pate5	A	C	9: 35,750,479 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,700,707 (GRCm39)	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,526,225 (GRCm39)	H281Q	possibly damaging	Het
Ppp2r3d	A	C	9: 101,088,757 (GRCm39)	M522R	probably damaging	Het
Prdm12	T	C	2: 31,530,325 (GRCm39)	F72S	possibly damaging	Het
Prima1	A	T	12: 103,168,949 (GRCm39)	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,627,965 (GRCm39)	H142R	probably benign	Het
Rasgrf2	G	A	13: 92,120,374 (GRCm39)	A793V	probably benign	Het
Rbsn	T	A	6: 92,166,854 (GRCm39)	M597L	probably benign	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Rp9	T	C	9: 22,379,425 (GRCm39)	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,523,135 (GRCm39)	S211G	probably damaging	Het
Shank2	C	T	7: 143,964,971 (GRCm39)	P1070S	probably damaging	Het
Sla	A	G	15: 66,654,563 (GRCm39)	V241A	probably benign	Het
Slc25a40	A	G	5: 8,477,489 (GRCm39)	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,685,608 (GRCm39)	S164P	probably benign	Het
Slc7a5	A	T	8: 122,610,444 (GRCm39)	W457R	probably null	Het
Slco6c1	A	G	1: 97,032,542 (GRCm39)	M303T	probably benign	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Tecta	A	C	9: 42,251,581 (GRCm39)	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,319,313 (GRCm39)	H280Q	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,592,107 (GRCm39)	L336P	probably damaging	Het
Tmem94	A	G	11: 115,685,575 (GRCm39)	I943V	probably benign	Het
Tshb	A	G	3: 102,685,464 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,818,035 (GRCm39)	V116A	probably benign	Het
Vmn2r76	A	G	7: 85,880,219 (GRCm39)	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,295,067 (GRCm39)	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,292,826 (GRCm39)	R2108G	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
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
R7249:Msra	UTSW	14	64,678,212 (GRCm39)	missense	probably benign	0.17
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'- TACAGTGTATCACCTTGTCATGC -3'
(R):5'- TCAAGGAGTCCTGTGTCCAG -3'

Sequencing Primer
(F):5'- GTCATGCTACTCTCTGGAAATCAAAC -3'
(R):5'- AAGGAGTCCTGTGTCCAGCATTG -3'

Posted On

2014-10-01