Incidental Mutation 'IGL03082:Immp2l'
ID 417896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Immp2l
Ensembl Gene ENSMUSG00000056899
Gene Name IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Synonyms IMP2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03082
Quality Score
Status
Chromosome 12
Chromosomal Location 41074089-42002371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41160900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 66 (V66G)
Ref Sequence ENSEMBL: ENSMUSP00000079055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080160] [ENSMUST00000132121] [ENSMUST00000134965]
AlphaFold Q8BPT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000080160
AA Change: V66G

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079055
Gene: ENSMUSG00000056899
AA Change: V66G

DomainStartEndE-ValueType
SCOP:d1b12a_ 33 77 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132121
AA Change: V66G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899
AA Change: V66G

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 115 7.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134965
AA Change: V66G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899
AA Change: V66G

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 114 6.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140790
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced fertility, abnormal cellular respiration, and decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chst1 C T 2: 92,444,278 (GRCm39) T250I possibly damaging Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Dpysl2 T C 14: 67,045,459 (GRCm39) E438G probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fam185a G A 5: 21,660,836 (GRCm39) V284I possibly damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nedd4 G A 9: 72,584,676 (GRCm39) probably null Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Pou2f3 C A 9: 43,058,212 (GRCm39) probably null Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Immp2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Immp2l APN 12 41,118,320 (GRCm39) missense probably benign 0.26
IGL01696:Immp2l APN 12 41,675,590 (GRCm39) missense probably damaging 1.00
imp UTSW 12 41,160,846 (GRCm39) nonsense probably null
R1583:Immp2l UTSW 12 41,750,548 (GRCm39) splice site probably benign
R1636:Immp2l UTSW 12 41,750,470 (GRCm39) missense probably damaging 1.00
R3404:Immp2l UTSW 12 41,160,846 (GRCm39) nonsense probably null
R3405:Immp2l UTSW 12 41,160,846 (GRCm39) nonsense probably null
R7238:Immp2l UTSW 12 41,160,915 (GRCm39) missense possibly damaging 0.95
R9614:Immp2l UTSW 12 41,160,933 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02