Incidental Mutation 'R9705:Mrm2'
ID 729747
Institutional Source Beutler Lab
Gene Symbol Mrm2
Ensembl Gene ENSMUSG00000029557
Gene Name mitochondrial rRNA methyltransferase 2
Synonyms Ftsj2, 2310037B18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R9705 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 140313429-140317653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140316990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 15 (R15W)
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: R15W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031536
Gene: ENSMUSG00000029557
AA Change: R15W

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 probably benign
Transcript: ENSMUST00000198660
SMART Domains Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 112 2.1e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,588,913 (GRCm39) P110L probably damaging Het
Aff1 T G 5: 103,932,276 (GRCm39) L298R possibly damaging Het
B4galt1 T C 4: 40,853,474 (GRCm39) K111R probably benign Het
Brap A G 5: 121,801,373 (GRCm39) T87A probably benign Het
C1qtnf6 T A 15: 78,411,493 (GRCm39) Q61L probably benign Het
Ccar2 C A 14: 70,380,383 (GRCm39) C399F probably damaging Het
Cdh15 C A 8: 123,591,024 (GRCm39) D424E probably damaging Het
Cemip2 G A 19: 21,784,788 (GRCm39) V424I probably damaging Het
Col4a4 G A 1: 82,465,313 (GRCm39) A954V unknown Het
Cul9 T G 17: 46,854,226 (GRCm39) T159P probably damaging Het
Cyp3a59 A G 5: 146,033,120 (GRCm39) E164G probably benign Het
Dnah11 A C 12: 118,094,770 (GRCm39) L766R probably damaging Het
Drd5 T C 5: 38,478,027 (GRCm39) V340A probably damaging Het
Ephb6 G A 6: 41,596,715 (GRCm39) E921K probably benign Het
Fam83e G A 7: 45,371,921 (GRCm39) R106K probably benign Het
Fsip2 A G 2: 82,823,634 (GRCm39) T6456A probably benign Het
H2ac1 A G 13: 24,118,728 (GRCm39) N95S probably benign Het
H2-M10.6 A G 17: 37,123,642 (GRCm39) N112S probably benign Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hoxc9 T A 15: 102,890,362 (GRCm39) M93K possibly damaging Het
Hsd17b4 A C 18: 50,324,791 (GRCm39) K668T probably benign Het
Inpp4b T C 8: 82,772,890 (GRCm39) V728A probably benign Het
Jph3 C T 8: 122,508,913 (GRCm39) R392W probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Mphosph10 T C 7: 64,027,031 (GRCm39) E594G possibly damaging Het
Neurl4 A T 11: 69,799,679 (GRCm39) D994V probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Odam T A 5: 88,037,228 (GRCm39) F141I probably benign Het
Or1j10 A G 2: 36,266,962 (GRCm39) Y58C probably damaging Het
Or56a3b T A 7: 104,770,841 (GRCm39) L59Q probably damaging Het
Pck1 T A 2: 173,000,170 (GRCm39) S534T possibly damaging Het
Pgm3 A G 9: 86,437,414 (GRCm39) F528L probably benign Het
Pi4ka A T 16: 17,099,815 (GRCm39) I1936N Het
Ptpn13 T C 5: 103,681,221 (GRCm39) L807S possibly damaging Het
Ramp2 T A 11: 101,137,369 (GRCm39) L31Q possibly damaging Het
Rars2 A T 4: 34,646,561 (GRCm39) K275N possibly damaging Het
Rusc2 A C 4: 43,424,936 (GRCm39) N1131T probably benign Het
Snapc1 G T 12: 74,015,150 (GRCm39) K161N probably damaging Het
Spag8 G A 4: 43,652,366 (GRCm39) H325Y possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Synpo2l C T 14: 20,710,989 (GRCm39) V773M probably damaging Het
Syt3 A G 7: 44,045,225 (GRCm39) D519G probably damaging Het
Tacc2 A G 7: 130,361,018 (GRCm39) Y459C probably damaging Het
Trp53tg5 T C 2: 164,313,208 (GRCm39) S156G probably benign Het
Ubb A G 11: 62,443,375 (GRCm39) Y135C possibly damaging Het
Vmn2r90 A G 17: 17,933,039 (GRCm39) I200V possibly damaging Het
Zfp27 C A 7: 29,595,342 (GRCm39) V208F 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
R2087:Mrm2 UTSW 5 140,314,155 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GCCTCAGGATCTGATGCTTC -3'
(R):5'- TGGCGACCTTACATCAATACATAAG -3'

Sequencing Primer
(F):5'- CTCATTCATCTCCAGGAGTTTGAAGG -3'
(R):5'- TTTGGACCCCCATACACAGG -3'
Posted On 2022-10-06