Incidental Mutation 'R2087:Mrm2'
ID 231511
Institutional Source Beutler Lab
Gene Symbol Mrm2
Ensembl Gene ENSMUSG00000029557
Gene Name mitochondrial rRNA methyltransferase 2
Synonyms Ftsj2, 2310037B18Rik
MMRRC Submission 040092-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R2087 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 140313429-140317653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140314155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 227 (S227P)
Ref Sequence ENSEMBL: ENSMUSP00000031536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031536] [ENSMUST00000050205] [ENSMUST00000071881] [ENSMUST00000110825] [ENSMUST00000110826] [ENSMUST00000110827] [ENSMUST00000198660]
AlphaFold Q9CPY0
Predicted Effect probably damaging
Transcript: ENSMUST00000031536
AA Change: S227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031536
Gene: ENSMUSG00000029557
AA Change: S227P

DomainStartEndE-ValueType
Pfam:FtsJ 52 237 8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050205
SMART Domains Protein: ENSMUSP00000059983
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 6.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071881
SMART Domains Protein: ENSMUSP00000071778
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110825
SMART Domains Protein: ENSMUSP00000106449
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 103 4.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110826
SMART Domains Protein: ENSMUSP00000106450
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110827
SMART Domains Protein: ENSMUSP00000106451
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198617
Predicted Effect probably benign
Transcript: ENSMUST00000198660
SMART Domains Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 112 2.1e-15 PFAM
Meta Mutation Damage Score 0.7177 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T A 19: 24,042,364 (GRCm39) noncoding transcript Het
Adamts8 G A 9: 30,873,408 (GRCm39) R871Q probably damaging Het
Ank1 T C 8: 23,583,827 (GRCm39) L310S probably damaging Het
Atp2a3 A G 11: 72,871,274 (GRCm39) T592A probably damaging Het
Bpifb6 A G 2: 153,747,998 (GRCm39) D219G possibly damaging Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccdc14 T C 16: 34,516,015 (GRCm39) probably null Het
Ces1c A C 8: 93,834,230 (GRCm39) N353K probably benign Het
Chrna6 T A 8: 27,897,155 (GRCm39) M241L probably benign Het
Chtf8 T A 8: 107,612,568 (GRCm39) R124* probably null Het
Cpt1b A G 15: 89,306,411 (GRCm39) V296A probably benign Het
Cryl1 G A 14: 57,513,402 (GRCm39) S273L possibly damaging Het
Ctps1 T C 4: 120,420,012 (GRCm39) D134G probably benign Het
Cyp4f18 T C 8: 72,754,832 (GRCm39) M138V probably benign Het
Dnajb12 A G 10: 59,726,667 (GRCm39) K107R possibly damaging Het
Epha1 C T 6: 42,340,502 (GRCm39) D590N probably benign Het
Fndc3b A G 3: 27,505,703 (GRCm39) V855A probably benign Het
Ganc A G 2: 120,287,738 (GRCm39) Y822C probably damaging Het
Hook2 A G 8: 85,729,320 (GRCm39) D622G probably damaging Het
Kcnj8 T A 6: 142,511,422 (GRCm39) N395I probably benign Het
Kdm4b T C 17: 56,696,564 (GRCm39) S427P possibly damaging Het
Krt12 A G 11: 99,309,459 (GRCm39) F267S probably damaging Het
Lrrn2 T G 1: 132,865,489 (GRCm39) F185V probably damaging Het
Mecom A G 3: 30,006,963 (GRCm39) S764P probably benign Het
Mfsd14b C G 13: 65,215,796 (GRCm39) G386R probably damaging Het
Mug1 A G 6: 121,833,250 (GRCm39) N285S probably benign Het
Nalcn T C 14: 123,518,557 (GRCm39) T1661A probably benign Het
Ncoa6 G A 2: 155,248,079 (GRCm39) R1742* probably null Het
Nln T A 13: 104,173,877 (GRCm39) H548L probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or2r3 A T 6: 42,448,985 (GRCm39) N42K probably damaging Het
Or56b34 T A 7: 104,937,393 (GRCm39) I31N probably benign Het
Pgm5 T C 19: 24,710,927 (GRCm39) Y425C probably damaging Het
Pld2 A G 11: 70,433,786 (GRCm39) D242G probably damaging Het
Plekhm1 A G 11: 103,287,851 (GRCm39) probably null Het
Ptdss1 T C 13: 67,124,881 (GRCm39) probably benign Het
Pyroxd2 G T 19: 42,722,209 (GRCm39) L415I probably benign Het
Rapgef6 A G 11: 54,522,075 (GRCm39) T291A probably damaging Het
Rb1 A G 14: 73,517,692 (GRCm39) I238T probably benign Het
Rp1 G A 1: 4,418,575 (GRCm39) H846Y probably damaging Het
Rpgrip1 T A 14: 52,374,079 (GRCm39) probably null Het
Scaf4 T C 16: 90,049,313 (GRCm39) D258G unknown Het
Ska1 A T 18: 74,339,920 (GRCm39) C9S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc43a1 G A 2: 84,680,175 (GRCm39) R107Q probably damaging Het
Slc44a3 T A 3: 121,319,319 (GRCm39) N141Y probably damaging Het
Slit1 A T 19: 41,625,922 (GRCm39) D613E probably benign Het
Spata22 A T 11: 73,231,079 (GRCm39) Y111F probably benign Het
Tchh C A 3: 93,351,225 (GRCm39) R222S unknown Het
Tekt3 A G 11: 62,985,523 (GRCm39) D443G possibly damaging Het
Tns2 A T 15: 102,015,554 (GRCm39) Q144L possibly damaging Het
Troap T C 15: 98,976,698 (GRCm39) V274A possibly damaging Het
Ugt1a8 A G 1: 88,015,995 (GRCm39) Y136C probably damaging Het
Vmn2r23 A T 6: 123,718,458 (GRCm39) M604L probably benign Het
Vps13b T A 15: 35,597,639 (GRCm39) W1060R probably damaging Het
Wdfy3 A G 5: 102,042,926 (GRCm39) S1942P probably damaging Het
Wdr90 G A 17: 26,065,577 (GRCm39) T1596I probably damaging Het
Zc3h4 A G 7: 16,150,865 (GRCm39) E69G possibly damaging Het
Other mutations in Mrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Mrm2 APN 5 140,317,010 (GRCm39) missense probably benign 0.00
R1296:Mrm2 UTSW 5 140,314,308 (GRCm39) missense probably benign
R1473:Mrm2 UTSW 5 140,314,443 (GRCm39) missense probably benign 0.09
R4547:Mrm2 UTSW 5 140,314,251 (GRCm39) missense probably benign 0.04
R4548:Mrm2 UTSW 5 140,314,251 (GRCm39) missense probably benign 0.04
R9093:Mrm2 UTSW 5 140,314,427 (GRCm39) missense probably benign 0.07
R9546:Mrm2 UTSW 5 140,314,334 (GRCm39) missense probably damaging 1.00
R9705:Mrm2 UTSW 5 140,316,990 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCACGGCCCTTGAAAATATTTG -3'
(R):5'- GAGTGACATGGCACCGAATG -3'

Sequencing Primer
(F):5'- CGGCCCTTGAAAATATTTGCTTATC -3'
(R):5'- ACTGGGATCAGAGACCTCGATC -3'
Posted On 2014-09-18