Incidental Mutation 'IGL02159:Parl'
ID282384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parl
Ensembl Gene ENSMUSG00000033918
Gene Namepresenilin associated, rhomboid-like
SynonymsD16Ertd607e, PSENIP2, PRO2207, PSARL1, Psarl
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL02159
Quality Score
Status
Chromosome16
Chromosomal Location20279818-20302387 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 20280088 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048642] [ENSMUST00000136252] [ENSMUST00000152887] [ENSMUST00000232036] [ENSMUST00000232484]
Predicted Effect probably benign
Transcript: ENSMUST00000048642
SMART Domains Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918

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 benign
Transcript: ENSMUST00000136252
Predicted Effect probably benign
Transcript: ENSMUST00000152887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155832
Predicted Effect probably benign
Transcript: ENSMUST00000231547
Predicted Effect probably benign
Transcript: ENSMUST00000232036
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Parl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Parl APN 16 20298208 missense probably damaging 0.99
IGL01013:Parl APN 16 20282790 missense possibly damaging 0.50
IGL02189:Parl APN 16 20297703 missense probably damaging 1.00
R0233:Parl UTSW 16 20287907 missense probably damaging 0.96
R1301:Parl UTSW 16 20286926 missense probably damaging 1.00
R1954:Parl UTSW 16 20302327 start codon destroyed possibly damaging 0.95
R1955:Parl UTSW 16 20302327 start codon destroyed possibly damaging 0.95
R2353:Parl UTSW 16 20287040 missense probably benign 0.08
R3884:Parl UTSW 16 20283012 missense probably damaging 0.98
R5345:Parl UTSW 16 20298142 missense probably damaging 0.99
R5477:Parl UTSW 16 20280074 missense possibly damaging 0.90
R5567:Parl UTSW 16 20283012 missense probably damaging 0.97
R5687:Parl UTSW 16 20287978 intron probably benign
R6238:Parl UTSW 16 20302213 missense possibly damaging 0.94
Posted On2015-04-16