Incidental Mutation 'IGL01013:Parl'
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ID54019
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? Probably non essential (E-score: 0.159) question?
Stock #IGL01013
Quality Score
Status
Chromosome16
Chromosomal Location20279818-20302387 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 20282790 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 285 (A285S)
Ref Sequence ENSEMBL: ENSMUSP00000155974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048642] [ENSMUST00000133153] [ENSMUST00000136252] [ENSMUST00000152887] [ENSMUST00000232036] [ENSMUST00000232484]
Predicted Effect probably benign
Transcript: ENSMUST00000048642
AA Change: A319S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: A319S

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 noncoding transcript
Transcript: ENSMUST00000126001
Predicted Effect probably benign
Transcript: ENSMUST00000133153
Predicted Effect probably benign
Transcript: ENSMUST00000136252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136700
Predicted Effect probably benign
Transcript: ENSMUST00000152887
AA Change: A130S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155832
Predicted Effect probably benign
Transcript: ENSMUST00000231547
Predicted Effect possibly damaging
Transcript: ENSMUST00000232036
AA Change: A285S

PolyPhen 2 Score 0.498 (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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Parl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Parl APN 16 20298208 missense probably damaging 0.99
IGL02159:Parl APN 16 20280088 splice site probably benign
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
R7311:Parl UTSW 16 20287875 missense probably benign 0.02
Posted On2013-06-28