Incidental Mutation 'R8729:Msrb3'
ID 662659
Institutional Source Beutler Lab
Gene Symbol Msrb3
Ensembl Gene ENSMUSG00000051236
Gene Name methionine sulfoxide reductase B3
Synonyms D430026P16Rik
MMRRC Submission 068577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R8729 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 120617001-120735006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120687974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 34 (C34G)
Ref Sequence ENSEMBL: ENSMUSP00000089781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092143] [ENSMUST00000130950]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000092143
AA Change: C34G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089781
Gene: ENSMUSG00000051236
AA Change: C34G

DomainStartEndE-ValueType
Pfam:SelR 41 161 1.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130950
SMART Domains Protein: ENSMUSP00000115269
Gene: ENSMUSG00000051236

DomainStartEndE-ValueType
Pfam:SelR 20 90 7.1e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit deafness with cochlear inner and outer hair cell degeneration and increased apoptosis in the organ of Corti. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,176 (GRCm39) Y148* probably null Het
Ank3 A G 10: 69,838,428 (GRCm39) D1812G possibly damaging Het
Ankrd17 C T 5: 90,443,452 (GRCm39) C405Y probably benign Het
Ankrd61 A G 5: 143,827,803 (GRCm39) Y391H probably benign Het
Calcb A C 7: 114,319,428 (GRCm39) E70A probably benign Het
Ccr1 T C 9: 123,763,831 (GRCm39) K233R probably benign Het
Ccz1 T C 5: 143,948,310 (GRCm39) D115G probably damaging Het
Col14a1 T A 15: 55,310,893 (GRCm39) L1203* probably null Het
Csmd2 G A 4: 128,356,638 (GRCm39) D1648N Het
Csn1s1 T C 5: 87,824,998 (GRCm39) probably null Het
Depp1 C A 6: 116,628,762 (GRCm39) P35H probably damaging Het
Eif2ak3 C A 6: 70,821,864 (GRCm39) P52Q probably benign Het
Galnt18 T C 7: 111,119,198 (GRCm39) E441G probably null Het
Gpat2 C A 2: 127,275,739 (GRCm39) Q506K probably damaging Het
Gramd1a C A 7: 30,843,248 (GRCm39) R20L possibly damaging Het
Helz G T 11: 107,528,754 (GRCm39) probably null Het
Hif1a A G 12: 73,990,902 (GRCm39) N725D probably damaging Het
Ighv3-3 A T 12: 114,160,252 (GRCm39) W53R possibly damaging Het
Kat2a T C 11: 100,601,337 (GRCm39) K331R probably benign Het
Klk1b4 T A 7: 43,856,884 (GRCm39) F3I probably damaging Het
Krt78 T G 15: 101,855,455 (GRCm39) Q785H probably damaging Het
Lsm11 C T 11: 45,835,727 (GRCm39) E5K possibly damaging Het
Luzp2 A G 7: 54,816,985 (GRCm39) K145R probably damaging Het
Man2b2 T C 5: 36,973,462 (GRCm39) T506A probably benign Het
Muc16 T C 9: 18,571,346 (GRCm39) D391G unknown Het
Mybpc2 C T 7: 44,155,611 (GRCm39) V881M probably damaging Het
Myh15 A G 16: 48,881,851 (GRCm39) K31R probably damaging Het
Ndnf A T 6: 65,680,758 (GRCm39) K346* probably null Het
Nfs1 G A 2: 155,965,727 (GRCm39) T118I probably benign Het
Niban2 T A 2: 32,799,946 (GRCm39) L91Q probably damaging Het
Nlrp9c T G 7: 26,071,428 (GRCm39) K893N probably benign Het
Nmd3 A T 3: 69,655,682 (GRCm39) K454N possibly damaging Het
Or5ae1 T C 7: 84,565,523 (GRCm39) C179R probably damaging Het
Pcdhb9 C A 18: 37,535,639 (GRCm39) D544E possibly damaging Het
Pck1 A G 2: 172,997,866 (GRCm39) I312V probably damaging Het
Pkd2l2 G A 18: 34,566,354 (GRCm39) V522I probably benign Het
Polr3c C T 3: 96,634,796 (GRCm39) probably benign Het
Prkd2 T A 7: 16,583,052 (GRCm39) H271Q probably damaging Het
Rpp21 A G 17: 36,566,927 (GRCm39) S59P probably benign Het
Rxfp4 T A 3: 88,559,305 (GRCm39) N382I unknown Het
Sirt1 A G 10: 63,156,705 (GRCm39) F642L probably damaging Het
Sp2 T C 11: 96,852,099 (GRCm39) D275G possibly damaging Het
Speer4a3 A G 5: 26,158,178 (GRCm39) V58A probably damaging Het
Srp72 C T 5: 77,142,005 (GRCm39) T414I probably benign Het
Syne1 T A 10: 5,179,275 (GRCm39) M4400L probably benign Het
Tbx15 A T 3: 99,220,376 (GRCm39) H156L possibly damaging Het
Tbxas1 G T 6: 38,978,272 (GRCm39) M140I probably benign Het
Tcof1 G T 18: 60,962,145 (GRCm39) P695T unknown Het
Tmprss9 A T 10: 80,726,177 (GRCm39) M476L probably benign Het
Trat1 A T 16: 48,562,591 (GRCm39) I73N probably damaging Het
Trp53bp2 A T 1: 182,276,587 (GRCm39) E856V probably benign Het
Ttc28 T A 5: 111,383,509 (GRCm39) probably null Het
Ttn AC A 2: 76,749,528 (GRCm39) probably null Het
Twf1 T C 15: 94,479,212 (GRCm39) N216D probably benign Het
Unc80 C A 1: 66,647,649 (GRCm39) H1530N probably benign Het
Vmn1r235 A T 17: 21,481,875 (GRCm39) M67L probably benign Het
Vmn2r111 A T 17: 22,767,239 (GRCm39) Y753N probably damaging Het
Zkscan5 T A 5: 145,157,071 (GRCm39) N524K probably benign Het
Other mutations in Msrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Msrb3 APN 10 120,685,906 (GRCm39) missense possibly damaging 0.94
IGL03303:Msrb3 APN 10 120,620,046 (GRCm39) missense probably benign 0.03
R0138:Msrb3 UTSW 10 120,687,892 (GRCm39) missense probably damaging 1.00
R1073:Msrb3 UTSW 10 120,620,041 (GRCm39) missense possibly damaging 0.96
R1946:Msrb3 UTSW 10 120,687,913 (GRCm39) missense probably damaging 1.00
R2113:Msrb3 UTSW 10 120,687,985 (GRCm39) missense possibly damaging 0.66
R3623:Msrb3 UTSW 10 120,620,103 (GRCm39) missense probably damaging 1.00
R3741:Msrb3 UTSW 10 120,620,119 (GRCm39) missense probably damaging 1.00
R4606:Msrb3 UTSW 10 120,685,902 (GRCm39) missense probably damaging 1.00
R6397:Msrb3 UTSW 10 120,627,356 (GRCm39) missense probably damaging 1.00
R6875:Msrb3 UTSW 10 120,620,011 (GRCm39) missense probably benign 0.13
R7207:Msrb3 UTSW 10 120,627,305 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAGAAAGTGGTGCTTGCCTG -3'
(R):5'- GCAGCTCAGGTAAGGTTTTG -3'

Sequencing Primer
(F):5'- ACCTGCCTGCTTGCCTG -3'
(R):5'- CAGCTCAGGTAAGGTTTTGTGGTC -3'
Posted On 2021-03-08