Incidental Mutation 'R3404:Immp2l'
ID 259292
Institutional Source Beutler Lab
Gene Symbol Immp2l
Ensembl Gene ENSMUSG00000056899
Gene Name IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Synonyms IMP2
MMRRC Submission 040622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3404 (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: 97.0%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,571,449 (GRCm39) V1065M probably damaging Het
Alg12 A T 15: 88,698,782 (GRCm39) I181N probably damaging Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankar T A 1: 72,682,252 (GRCm39) K1220* probably null Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Baz1a C T 12: 54,963,774 (GRCm39) S770N probably benign Het
Bcorl1 T A X: 47,459,884 (GRCm39) M1139K probably benign Het
Bdkrb2 T C 12: 105,558,755 (GRCm39) V332A possibly damaging Het
Bnc2 G T 4: 84,464,478 (GRCm39) N20K probably damaging Het
Brip1 T A 11: 86,034,089 (GRCm39) N544I possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Cyp2c66 T C 19: 39,151,771 (GRCm39) V162A probably benign Het
Dnai1 A T 4: 41,603,246 (GRCm39) E176D probably benign Het
Dnhd1 C T 7: 105,343,968 (GRCm39) Q1771* probably null Het
Fezf1 A T 6: 23,247,283 (GRCm39) V264D probably benign Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hspa13 C A 16: 75,554,914 (GRCm39) E391* probably null Het
Ighv1-53 T A 12: 115,122,058 (GRCm39) T106S possibly damaging Het
Itgam A G 7: 127,669,875 (GRCm39) probably null Het
Ltn1 A T 16: 87,213,103 (GRCm39) V486D probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mycbp2 C A 14: 103,437,550 (GRCm39) C2104F probably damaging Het
Nlrp2 T C 7: 5,322,286 (GRCm39) D49G probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Prkd1 C T 12: 50,695,687 (GRCm39) A24T unknown Het
Pzp G A 6: 128,490,769 (GRCm39) T398M probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rnf146 A G 10: 29,223,424 (GRCm39) V154A possibly damaging Het
Senp7 T A 16: 56,008,640 (GRCm39) W1007R probably damaging Het
Snx31 C T 15: 36,525,799 (GRCm39) C300Y probably benign Het
Ticrr G C 7: 79,344,539 (GRCm39) S1468T probably benign Het
Trim33 A G 3: 103,228,875 (GRCm39) E327G probably damaging Het
Ubap2l T C 3: 89,946,157 (GRCm39) E149G probably damaging Het
Ube4a A G 9: 44,840,985 (GRCm39) S979P probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vps13b T C 15: 35,926,200 (GRCm39) S3834P probably damaging Het
Zfp609 A T 9: 65,608,454 (GRCm39) M1142K possibly damaging Het
Zfp729b T G 13: 67,739,283 (GRCm39) H994P 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGAATCCTAGTTAGCCTGTC -3'
(R):5'- TGCTACATGAAGCCTAACAGTTG -3'

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