Incidental Mutation 'IGL00821:Parl'
ID 13670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parl
Ensembl Gene ENSMUSG00000033918
Gene Name presenilin associated, rhomboid-like
Synonyms D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL00821
Quality Score
Status
Chromosome 16
Chromosomal Location 20098570-20121090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20116958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 80 (P80S)
Ref Sequence ENSEMBL: ENSMUSP00000119470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048642] [ENSMUST00000133153] [ENSMUST00000136252] [ENSMUST00000152887] [ENSMUST00000232036] [ENSMUST00000232484]
AlphaFold Q5XJY4
Predicted Effect probably benign
Transcript: ENSMUST00000048642
AA Change: P80S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: P80S

DomainStartEndE-ValueType
transmembrane domain 100 119 N/A INTRINSIC
transmembrane domain 166 185 N/A INTRINSIC
Pfam:Rhomboid 199 351 9.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123070
Predicted Effect probably damaging
Transcript: ENSMUST00000133153
AA Change: P80S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000136252
AA Change: P80S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143648
Predicted Effect probably benign
Transcript: ENSMUST00000152887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153275
Predicted Effect possibly damaging
Transcript: ENSMUST00000232036
AA Change: P80S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000232484
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 member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cad T C 5: 31,218,828 (GRCm39) Y550H probably damaging Het
Cep350 A G 1: 155,737,950 (GRCm39) V2631A probably benign Het
Cpa2 A G 6: 30,564,411 (GRCm39) D414G probably benign Het
Dhx38 T C 8: 110,282,286 (GRCm39) I714V probably benign Het
Dis3 T C 14: 99,328,922 (GRCm39) I277V probably benign Het
Espl1 T C 15: 102,208,248 (GRCm39) L418P probably damaging Het
F7 A G 8: 13,078,802 (GRCm39) T78A probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Golga3 C A 5: 110,352,799 (GRCm39) H897N possibly damaging Het
Itgae T A 11: 73,013,974 (GRCm39) D724E probably damaging Het
Klb A T 5: 65,529,492 (GRCm39) Y340F probably damaging Het
Kmt2b A T 7: 30,270,038 (GRCm39) L2436Q probably damaging Het
Krt17 A G 11: 100,151,457 (GRCm39) L112P probably damaging Het
Lrp2 T A 2: 69,289,860 (GRCm39) N3660Y probably damaging Het
Mia2 T C 12: 59,217,106 (GRCm39) probably null Het
Myh2 C T 11: 67,088,223 (GRCm39) probably benign Het
Nr2f1 A G 13: 78,346,233 (GRCm39) probably benign Het
Odf2l T A 3: 144,856,748 (GRCm39) S568T probably damaging Het
Ppfibp2 T G 7: 107,329,083 (GRCm39) F531V probably damaging Het
Prpf40b A G 15: 99,214,382 (GRCm39) E854G probably benign Het
Rere A G 4: 150,703,920 (GRCm39) K1551E probably damaging Het
Sacm1l A T 9: 123,399,614 (GRCm39) Q302L possibly damaging Het
Slc41a2 A G 10: 83,149,394 (GRCm39) probably benign Het
Smchd1 T C 17: 71,705,618 (GRCm39) T994A possibly damaging Het
Ubxn7 G A 16: 32,188,216 (GRCm39) D125N probably damaging Het
Zfp667 A G 7: 6,308,396 (GRCm39) N355D possibly damaging Het
Zfp839 T C 12: 110,831,441 (GRCm39) probably null Het
Zfpm2 T A 15: 40,966,783 (GRCm39) N957K probably damaging Het
Other mutations in Parl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Parl APN 16 20,101,540 (GRCm39) missense possibly damaging 0.50
IGL02159:Parl APN 16 20,098,838 (GRCm39) splice site probably benign
IGL02189:Parl APN 16 20,116,453 (GRCm39) missense probably damaging 1.00
R0233:Parl UTSW 16 20,106,657 (GRCm39) missense probably damaging 0.96
R1301:Parl UTSW 16 20,105,676 (GRCm39) missense probably damaging 1.00
R1954:Parl UTSW 16 20,121,077 (GRCm39) start codon destroyed possibly damaging 0.95
R1955:Parl UTSW 16 20,121,077 (GRCm39) start codon destroyed possibly damaging 0.95
R2353:Parl UTSW 16 20,105,790 (GRCm39) missense probably benign 0.08
R3884:Parl UTSW 16 20,101,762 (GRCm39) missense probably damaging 0.98
R5345:Parl UTSW 16 20,116,892 (GRCm39) missense probably damaging 0.99
R5477:Parl UTSW 16 20,098,824 (GRCm39) missense possibly damaging 0.90
R5567:Parl UTSW 16 20,101,762 (GRCm39) missense probably damaging 0.97
R5687:Parl UTSW 16 20,106,728 (GRCm39) intron probably benign
R6238:Parl UTSW 16 20,120,963 (GRCm39) missense possibly damaging 0.94
R7311:Parl UTSW 16 20,106,625 (GRCm39) missense probably benign 0.02
R8028:Parl UTSW 16 20,098,801 (GRCm39) missense probably benign 0.31
R8971:Parl UTSW 16 20,116,909 (GRCm39) missense probably damaging 1.00
R9696:Parl UTSW 16 20,105,690 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06