Incidental Mutation 'R4548:Mrm2'
ID 333865
Institutional Source Beutler Lab
Gene Symbol Mrm2
Ensembl Gene ENSMUSG00000029557
Gene Name mitochondrial rRNA methyltransferase 2
Synonyms Ftsj2, 2310037B18Rik
MMRRC Submission 041594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R4548 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 140313429-140317653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140314251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 195 (T195A)
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 benign
Transcript: ENSMUST00000031536
AA Change: T195A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031536
Gene: ENSMUSG00000029557
AA Change: T195A

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 0.0821 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,553,245 (GRCm39) F155L possibly damaging Het
Adcy6 A G 15: 98,496,540 (GRCm39) I545T probably damaging Het
Afg2a T A 3: 37,486,176 (GRCm39) N299K probably benign Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Anln T C 9: 22,274,184 (GRCm39) D551G possibly damaging Het
Arhgef17 T C 7: 100,580,336 (GRCm39) Q204R possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl2l11 A G 2: 127,971,566 (GRCm39) E75G probably benign Het
Cfap45 A G 1: 172,372,675 (GRCm39) I457V probably benign Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cntln C A 4: 85,015,079 (GRCm39) H1123Q probably benign Het
Cops3 C T 11: 59,718,671 (GRCm39) probably null Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnajc11 A G 4: 152,058,074 (GRCm39) N281S possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fras1 A G 5: 96,857,754 (GRCm39) D2016G probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Greb1 T C 12: 16,749,676 (GRCm39) D1050G probably damaging Het
Kcnh6 T C 11: 105,899,875 (GRCm39) F48S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Myzap T C 9: 71,457,528 (GRCm39) E289G possibly damaging Het
Nemp1 A G 10: 127,532,213 (GRCm39) E373G probably benign Het
Or13c7 T A 4: 43,854,834 (GRCm39) I175N probably damaging Het
Or8h10 T C 2: 86,809,014 (GRCm39) N42S probably damaging Het
Polr1c A T 17: 46,558,735 (GRCm39) probably null Het
Rev1 A G 1: 38,098,275 (GRCm39) M756T possibly damaging Het
Sacs A G 14: 61,429,387 (GRCm39) D482G probably damaging Het
Sfrp4 A G 13: 19,807,936 (GRCm39) M112V possibly damaging Het
Slc7a4 T C 16: 17,393,209 (GRCm39) T197A probably benign Het
Snx27 C T 3: 94,433,746 (GRCm39) probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Ssh2 G A 11: 77,341,010 (GRCm39) A721T probably benign Het
Trappc3 A G 4: 126,166,544 (GRCm39) D39G possibly damaging Het
Ttc28 G A 5: 111,419,090 (GRCm39) S1362N possibly damaging Het
Ugt2b35 A T 5: 87,156,134 (GRCm39) K409* probably null Het
Vmn2r92 A T 17: 18,391,578 (GRCm39) M527L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* probably null 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
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'- GTGCTGGTCATATCCACAAGG -3'
(R):5'- GATTCTAGAACTGCTTCCCAGC -3'

Sequencing Primer
(F):5'- GGTCATATCCACAAGGCAGCTTG -3'
(R):5'- CAGGAGAGCAGATGTGATTCTG -3'
Posted On 2015-08-18