Incidental Mutation 'R3161:Ppil3'
ID258140
Institutional Source Beutler Lab
Gene Symbol Ppil3
Ensembl Gene ENSMUSG00000026035
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 3
Synonyms2510026K04Rik, Cyp10l, 2310076N22Rik
MMRRC Submission 040612-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #R3161 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location58430994-58445486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58434414 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 92 (N92K)
Ref Sequence ENSEMBL: ENSMUSP00000112947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000185990] [ENSMUST00000190048]
Predicted Effect probably benign
Transcript: ENSMUST00000081677
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: N92K

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114345
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: N92K

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 120 8.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114348
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: N92K

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117069
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: N92K

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124550
Predicted Effect probably benign
Transcript: ENSMUST00000185990
SMART Domains Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 90 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188896
Predicted Effect probably benign
Transcript: ENSMUST00000190048
SMART Domains Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 91 3.1e-27 PFAM
Meta Mutation Damage Score 0.1061 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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 cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 63,896,490 probably benign Het
1700066M21Rik T A 1: 57,383,075 N203K probably benign Het
1700125H20Rik A G 11: 85,173,284 S84G probably damaging Het
Adcy9 A G 16: 4,311,588 L715P probably damaging Het
Adgrl2 G A 3: 148,817,551 L1354F probably damaging Het
Amer2 A G 14: 60,378,551 D65G probably damaging Het
Aox2 G T 1: 58,304,438 V427L possibly damaging Het
Atad2b C A 12: 4,939,689 N133K possibly damaging Het
Bptf A T 11: 107,074,476 D1182E probably damaging Het
Camk1g T C 1: 193,359,807 T45A possibly damaging Het
Caps2 C A 10: 112,182,486 Y180* probably null Het
Cfap54 T A 10: 93,045,278 K349N probably damaging Het
Ciz1 A G 2: 32,370,063 D207G probably benign Het
Copa T A 1: 172,091,233 C127S probably damaging Het
Crabp2 A T 3: 87,952,177 K45* probably null Het
Daam1 C A 12: 71,947,098 T425K unknown Het
Dapk2 T G 9: 66,254,611 V267G probably damaging Het
Disp1 T C 1: 183,087,242 K1205E probably benign Het
Dlg4 G C 11: 70,017,225 R4T probably damaging Het
Fbf1 A G 11: 116,148,220 I743T probably damaging Het
Fen1 A G 19: 10,200,291 L263P probably damaging Het
G6pc2 A G 2: 69,220,112 N27S probably damaging Het
Garnl3 A T 2: 33,034,711 N246K probably damaging Het
Gm7337 A C 5: 87,851,557 noncoding transcript Het
Gpr152 A G 19: 4,142,714 T85A probably benign Het
Hnrnpu T C 1: 178,331,125 probably benign Het
Ighv1-81 C G 12: 115,920,329 E101Q probably benign Het
Ipo9 T C 1: 135,409,476 T174A probably benign Het
Myo9a C T 9: 59,832,315 probably benign Het
Nup155 G T 15: 8,148,383 R1083S possibly damaging Het
Olfr1351 C A 10: 79,017,604 T94N probably benign Het
Olfr213 C T 6: 116,540,846 A131V probably damaging Het
Olfr262 T C 19: 12,241,496 H55R probably benign Het
Olfr739 T A 14: 50,425,031 C171S probably damaging Het
Phyh T A 2: 4,937,671 probably benign Het
Pkp4 G T 2: 59,308,105 R233M probably damaging Het
Plcb1 A T 2: 135,335,482 Q578L probably benign Het
Prokr1 C T 6: 87,588,431 R144H probably damaging Het
Psap T C 10: 60,277,753 L4P possibly damaging Het
Rai14 T C 15: 10,633,164 T47A possibly damaging Het
Rps2 G T 17: 24,720,978 A129S probably benign Het
Sult2a4 T C 7: 13,989,471 T40A probably benign Het
Tacr2 A G 10: 62,265,245 D378G probably benign Het
Topaz1 T C 9: 122,749,381 I452T probably benign Het
Ttn A G 2: 76,833,237 probably benign Het
Vmn2r115 T A 17: 23,357,024 M532K possibly damaging Het
Vmn2r117 A G 17: 23,460,378 L624P probably damaging Het
Vstm5 T G 9: 15,257,298 S53A probably benign Het
Wipf1 C T 2: 73,434,949 E437K probably damaging Het
Wls G T 3: 159,897,436 C162F probably damaging Het
Yeats2 T C 16: 20,193,645 V531A probably damaging Het
Zfp868 A G 8: 69,612,085 S200P probably benign Het
Other mutations in Ppil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Ppil3 APN 1 58444591 start codon destroyed probably null 0.01
IGL02192:Ppil3 APN 1 58438388 missense probably damaging 0.97
R1342:Ppil3 UTSW 1 58440878 missense probably damaging 1.00
R4564:Ppil3 UTSW 1 58431322 missense probably damaging 0.96
R4734:Ppil3 UTSW 1 58431269 missense probably benign 0.00
R5129:Ppil3 UTSW 1 58440833 splice site probably benign
R7782:Ppil3 UTSW 1 58434415 missense probably benign 0.00
R7789:Ppil3 UTSW 1 58434379 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AACTTCCTCAGGGGCTGATG -3'
(R):5'- AAGTGTCTGTGACTGCTTCTTC -3'

Sequencing Primer
(F):5'- CCAGGGCGTTTAGTTGTGGAAC -3'
(R):5'- GTCTGTGACTGCTTCTTCAAAATG -3'
Posted On2015-01-23