Incidental Mutation 'R5685:Ppil4'
ID443296
Institutional Source Beutler Lab
Gene Symbol Ppil4
Ensembl Gene ENSMUSG00000015757
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 4
Synonyms3732410E19Rik, 3830425H19Rik, PPIase
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #R5685 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location7792891-7823135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 7798422 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 110 (I110S)
Ref Sequence ENSEMBL: ENSMUSP00000015901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]
Predicted Effect probably damaging
Transcript: ENSMUST00000015901
AA Change: I110S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
AA Change: I110S

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 161 6.4e-40 PFAM
low complexity region 205 218 N/A INTRINSIC
RRM 241 314 1.49e-22 SMART
low complexity region 321 333 N/A INTRINSIC
low complexity region 374 389 N/A INTRINSIC
low complexity region 435 449 N/A INTRINSIC
low complexity region 467 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138151
Predicted Effect probably benign
Transcript: ENSMUST00000143214
SMART Domains Protein: ENSMUSP00000119332
Gene: ENSMUSG00000015757

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 67 1.8e-18 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 44,230,550 probably benign Het
4921501E09Rik T A 17: 33,066,772 H352L probably benign Het
Abcb5 A T 12: 118,932,613 probably null Het
Abcg1 G T 17: 31,098,286 E191* probably null Het
Als2 A G 1: 59,179,091 Y1263H possibly damaging Het
Amer2 T A 14: 60,379,577 L281* probably null Het
Anxa6 T C 11: 54,996,370 N361D probably benign Het
Ap1g1 A T 8: 109,837,783 N320I probably damaging Het
Aqr T C 2: 114,156,265 D208G possibly damaging Het
Arnt2 T C 7: 84,263,265 T545A probably benign Het
Aspm G A 1: 139,487,288 V2701I probably benign Het
Atad2 A G 15: 58,116,798 V106A possibly damaging Het
Bbs2 A C 8: 94,087,433 F186V probably damaging Het
Catsperg2 G A 7: 29,701,188 P247L probably damaging Het
Cfap57 G T 4: 118,569,459 Q1098K probably benign Het
Cxcr6 A G 9: 123,810,746 T271A probably benign Het
Dock1 A G 7: 134,772,362 E579G probably benign Het
Frem3 A G 8: 80,695,303 T2111A probably damaging Het
Galnt1 A T 18: 24,264,529 D229V possibly damaging Het
Gbp2b A C 3: 142,608,158 M400L probably benign Het
Gm1123 T A 9: 99,009,433 probably null Het
Gtpbp6 T C 5: 110,104,939 H349R probably damaging Het
Hyal5 A G 6: 24,876,692 K188R probably benign Het
Insrr T C 3: 87,800,496 probably null Het
Kcnn1 A T 8: 70,852,730 C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,881,617 probably null Het
Kif23 T C 9: 61,945,409 T8A probably benign Het
Lrrk2 A T 15: 91,803,301 R2198* probably null Het
Mcl1 T G 3: 95,659,798 D177E possibly damaging Het
Mrps11 A T 7: 78,791,880 T137S probably benign Het
Mtbp A G 15: 55,562,772 Y90C probably damaging Het
Nkpd1 C T 7: 19,523,573 Q276* probably null Het
Nxt1 G T 2: 148,675,753 W138L possibly damaging Het
Olfr1042 T C 2: 86,159,795 T192A probably damaging Het
Olfr1102 T A 2: 87,002,277 S103T probably benign Het
Olfr183 T A 16: 59,000,346 F220L probably benign Het
Osbpl7 C A 11: 97,060,277 P478H probably damaging Het
Pitpna T A 11: 75,620,269 F222I probably damaging Het
Plekhh2 A T 17: 84,569,882 R552W probably damaging Het
Plxnb2 C T 15: 89,167,032 R328H probably damaging Het
Pmaip1 C T 18: 66,460,984 T65I probably benign Het
Prpf38a A G 4: 108,570,154 probably null Het
Psme4 G A 11: 30,809,837 G320D probably damaging Het
Rab17 C A 1: 90,958,957 R191L probably benign Het
Rhag A T 17: 40,831,331 M222L possibly damaging Het
Rims2 A T 15: 39,437,206 H111L possibly damaging Het
Setx T C 2: 29,171,280 Y2234H probably damaging Het
Slc2a8 T C 2: 32,981,789 I51V possibly damaging Het
Slc34a1 T C 13: 55,401,272 probably null Het
Slf1 T C 13: 77,083,479 T594A possibly damaging Het
Sox6 A T 7: 115,579,157 probably null Het
Spata13 C T 14: 60,691,203 S70L probably benign Het
Stard13 A G 5: 151,063,127 I188T possibly damaging Het
Stard9 A G 2: 120,705,322 D4020G probably damaging Het
Tdp1 A G 12: 99,902,352 K255R possibly damaging Het
Tns2 G T 15: 102,107,103 A124S probably benign Het
Top2b T A 14: 16,413,666 W1045R probably damaging Het
Trav12-2 T C 14: 53,616,665 V32A probably damaging Het
Vps13c G T 9: 67,963,173 R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Zfp52 T A 17: 21,561,751 S620R probably benign Het
Zfp62 T A 11: 49,216,217 C378* probably null Het
Zfp638 C A 6: 83,929,987 P378H probably damaging Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02409:Ppil4 APN 10 7798564 intron probably benign
IGL02504:Ppil4 APN 10 7820984 nonsense probably null
R0105:Ppil4 UTSW 10 7798446 missense probably damaging 1.00
R0105:Ppil4 UTSW 10 7798446 missense probably damaging 1.00
R1056:Ppil4 UTSW 10 7799632 missense possibly damaging 0.93
R1743:Ppil4 UTSW 10 7807381 missense probably damaging 1.00
R1776:Ppil4 UTSW 10 7810437 missense probably benign 0.25
R3743:Ppil4 UTSW 10 7821171 missense unknown
R3747:Ppil4 UTSW 10 7814693 missense probably benign 0.07
R5634:Ppil4 UTSW 10 7814778 missense probably benign
R5820:Ppil4 UTSW 10 7810410 missense probably null 0.13
R6546:Ppil4 UTSW 10 7798422 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTGTCAGGGGAACATCTTTGTAC -3'
(R):5'- ATGCCAGTACATGTTCAATACCAAG -3'

Sequencing Primer
(F):5'- GATACAGTAGATCTAGAGTCTTG -3'
(R):5'- ACATGTTCAATACCAAGTGTTAAAAC -3'
Posted On2016-11-09