Incidental Mutation 'R5345:Parl'
ID 422586
Institutional Source Beutler Lab
Gene Symbol Parl
Ensembl Gene ENSMUSG00000033918
Gene Name presenilin associated, rhomboid-like
Synonyms D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1
MMRRC Submission 042924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R5345 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20098570-20121090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20116892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 102 (F102I)
Ref Sequence ENSEMBL: ENSMUSP00000119470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048642] [ENSMUST00000133153] [ENSMUST00000136252] [ENSMUST00000152887] [ENSMUST00000232036] [ENSMUST00000232484]
AlphaFold Q5XJY4
Predicted Effect probably damaging
Transcript: ENSMUST00000048642
AA Change: F102I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: F102I

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 possibly damaging
Transcript: ENSMUST00000133153
AA Change: F102I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000136252
AA Change: F102I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153275
Predicted Effect probably benign
Transcript: ENSMUST00000152887
Predicted Effect possibly damaging
Transcript: ENSMUST00000232036
AA Change: F102I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000232484
Meta Mutation Damage Score 0.4901 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (65/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,687,059 (GRCm39) S519T probably damaging Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acot1 T A 12: 84,063,942 (GRCm39) I350N probably damaging Het
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Ankar A G 1: 72,709,310 (GRCm39) M735T possibly damaging Het
Cacna1c A G 6: 118,633,497 (GRCm39) probably null Het
Cdc25b A G 2: 131,034,516 (GRCm39) S222G probably benign Het
Celsr3 T C 9: 108,709,323 (GRCm39) S1390P probably damaging Het
Clca4a T G 3: 144,676,222 (GRCm39) D104A probably damaging Het
Clcn6 A T 4: 148,123,206 (GRCm39) probably benign Het
Coq8b A G 7: 26,949,773 (GRCm39) T320A probably benign Het
Cspg5 A T 9: 110,075,698 (GRCm39) M145L probably benign Het
Cyp2c67 T A 19: 39,614,676 (GRCm39) I284F probably benign Het
Eya4 T C 10: 22,985,947 (GRCm39) I565V probably benign Het
Fbxw11 A G 11: 32,688,471 (GRCm39) N410S probably damaging Het
Gabrb2 C T 11: 42,517,636 (GRCm39) A448V possibly damaging Het
Hectd4 A G 5: 121,402,037 (GRCm39) D375G possibly damaging Het
Itsn2 T C 12: 4,722,783 (GRCm39) V1073A probably damaging Het
Kif5c A G 2: 49,613,078 (GRCm39) T139A probably benign Het
L1td1 G A 4: 98,624,684 (GRCm39) G293D probably damaging Het
Lama1 A G 17: 68,124,558 (GRCm39) M2873V probably benign Het
Msantd5f6 A T 4: 73,319,514 (GRCm39) W77R probably damaging Het
Myo15a A G 11: 60,388,364 (GRCm39) R1960G probably damaging Het
Nbeal1 T C 1: 60,367,369 (GRCm39) probably null Het
Ndufb4 A G 16: 37,474,540 (GRCm39) probably null Het
Nup153 A T 13: 46,840,341 (GRCm39) L1089* probably null Het
Or10g3 G A 14: 52,609,725 (GRCm39) R262* probably null Het
Or2l13b T A 16: 19,349,527 (GRCm39) I48F probably damaging Het
Or5aq1b A G 2: 86,901,836 (GRCm39) V214A possibly damaging Het
P2rx1 A G 11: 72,900,056 (GRCm39) T158A probably damaging Het
Park7 A G 4: 150,992,880 (GRCm39) probably benign Het
Plxnc1 T A 10: 94,685,831 (GRCm39) H720L probably benign Het
Ptpn4 A G 1: 119,693,207 (GRCm39) S140P probably benign Het
Rel A G 11: 23,692,462 (GRCm39) S524P probably benign Het
Ripply2 A G 9: 86,901,779 (GRCm39) probably null Het
Rmc1 C T 18: 12,312,234 (GRCm39) T158M probably benign Het
Rps4l-ps T C 7: 114,526,433 (GRCm39) noncoding transcript Het
Rtn4ip1 T C 10: 43,808,466 (GRCm39) L81P probably damaging Het
Sap130 T C 18: 31,781,251 (GRCm39) L138P probably benign Het
Scp2 A T 4: 107,912,776 (GRCm39) probably null Het
Sec24c T A 14: 20,743,288 (GRCm39) M970K probably benign Het
Setd5 C T 6: 113,092,968 (GRCm39) P340L probably damaging Het
Sgcg A T 14: 61,483,218 (GRCm39) M61K probably damaging Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Slc34a1 A G 13: 55,548,331 (GRCm39) R21G probably benign Het
Slc7a14 A C 3: 31,278,006 (GRCm39) L533W probably damaging Het
Srsf9 A G 5: 115,468,595 (GRCm39) D77G probably benign Het
Tab1 A T 15: 80,034,014 (GRCm39) E119V possibly damaging Het
Tcstv5 A T 13: 120,411,384 (GRCm39) V74E probably damaging Het
Tnrc6c C T 11: 117,614,113 (GRCm39) A757V possibly damaging Het
Tradd A T 8: 105,986,556 (GRCm39) I72N probably damaging Het
Trbv12-1 C T 6: 41,090,781 (GRCm39) T51M probably benign Het
Tsga10 T C 1: 37,802,392 (GRCm39) K605E probably damaging Het
Vwc2l A G 1: 70,768,077 (GRCm39) D47G probably damaging Het
Zfp647 T A 15: 76,795,695 (GRCm39) T322S possibly damaging Het
Zscan20 A C 4: 128,481,914 (GRCm39) S583A probably benign Het
Other mutations in Parl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Parl APN 16 20,116,958 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGAAGCAATGGAGCCAAATTCTG -3'
(R):5'- AGATGCTTACCTACGCTCCAC -3'

Sequencing Primer
(F):5'- CAATGGAGCCAAATTCTGAAAGC -3'
(R):5'- ACGCTCCACAGGTTTAACTTG -3'
Posted On 2016-08-04