Incidental Mutation 'R3405:Immp2l'
ID 259342
Institutional Source Beutler Lab
Gene Symbol Immp2l
Ensembl Gene ENSMUSG00000056899
Gene Name IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Synonyms IMP2
MMRRC Submission 040623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3405 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 41074089-42002371 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 41160846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 48 (L48*)
Ref Sequence ENSEMBL: ENSMUSP00000116441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080160] [ENSMUST00000132121] [ENSMUST00000134965]
AlphaFold Q8BPT6
Predicted Effect probably null
Transcript: ENSMUST00000080160
AA Change: L48*
SMART Domains Protein: ENSMUSP00000079055
Gene: ENSMUSG00000056899
AA Change: L48*

DomainStartEndE-ValueType
SCOP:d1b12a_ 33 77 3e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000132121
AA Change: L48*
SMART Domains Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899
AA Change: L48*

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 115 7.7e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000134965
AA Change: L48*
SMART Domains Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899
AA Change: L48*

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 114 6.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140790
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Bcorl1 T A X: 47,459,884 (GRCm39) M1139K probably benign Het
C2cd3 T C 7: 100,039,373 (GRCm39) S191P probably benign Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Col3a1 G A 1: 45,377,913 (GRCm39) probably benign Het
Cubn C T 2: 13,338,319 (GRCm39) V2350I probably benign Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dnhd1 C T 7: 105,343,968 (GRCm39) Q1771* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fancm T C 12: 65,122,546 (GRCm39) S23P probably benign Het
Fmn1 A G 2: 113,194,693 (GRCm39) E131G unknown Het
Gm5612 A T 9: 18,339,149 (GRCm39) probably benign Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hormad2 T G 11: 4,374,302 (GRCm39) Q88P probably damaging Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Ltn1 A T 16: 87,213,103 (GRCm39) V486D probably damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Map3k4 A T 17: 12,475,668 (GRCm39) F809Y probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Myrfl A G 10: 116,658,770 (GRCm39) F396L probably damaging Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nlrp9c T A 7: 26,084,707 (GRCm39) I291F probably benign Het
Nrp1 T A 8: 129,224,569 (GRCm39) Y777* probably null Het
Ogdh T C 11: 6,299,462 (GRCm39) V776A probably damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Plg G T 17: 12,622,096 (GRCm39) S472I possibly damaging Het
Pnlip A G 19: 58,669,191 (GRCm39) T397A probably benign Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Senp7 T A 16: 56,008,640 (GRCm39) W1007R probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Szt2 A G 4: 118,251,217 (GRCm39) V297A probably benign Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Ticrr G C 7: 79,344,539 (GRCm39) S1468T probably benign Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Zfp609 A T 9: 65,608,454 (GRCm39) M1142K possibly 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
IGL03082:Immp2l APN 12 41,160,900 (GRCm39) missense possibly damaging 0.75
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
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
Predicted Primers PCR Primer
(F):5'- TTTGAGGAATCCTAGTTAGCCTGTC -3'
(R):5'- CTACATGAAGCCTAACAGTTGC -3'

Sequencing Primer
(F):5'- TCCTAGTTAGCCTGTCTGAAAAC -3'
(R):5'- CCATAACTGGACAGATAGTATCAGC -3'
Posted On 2015-01-23