Incidental Mutation 'R1776:Ppil4'
ID 197035
Institutional Source Beutler Lab
Gene Symbol Ppil4
Ensembl Gene ENSMUSG00000015757
Gene Name peptidylprolyl isomerase (cyclophilin)-like 4
Synonyms 3732410E19Rik, 3830425H19Rik, PPIase
MMRRC Submission 039807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # R1776 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 7668653-7698329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7686201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 353 (E353V)
Ref Sequence ENSEMBL: ENSMUSP00000015901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]
AlphaFold Q9CXG3
Predicted Effect probably benign
Transcript: ENSMUST00000015901
AA Change: E353V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
AA Change: E353V

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: ENSMUST00000117107
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency 98% (86/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,711,058 (GRCm39) noncoding transcript Het
9430097D07Rik T C 2: 32,464,767 (GRCm39) probably benign Het
A2m C G 6: 121,618,383 (GRCm39) F225L probably damaging Het
Adamts19 T A 18: 59,087,692 (GRCm39) I574N probably damaging Het
Ankfn1 T C 11: 89,417,300 (GRCm39) D104G possibly damaging Het
Ankhd1 T A 18: 36,780,361 (GRCm39) N1804K probably benign Het
Ankle1 G T 8: 71,861,918 (GRCm39) V474F probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Asph A T 4: 9,598,773 (GRCm39) S149R probably damaging Het
Cass4 A T 2: 172,269,615 (GRCm39) I568L probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdx1 G A 18: 61,169,086 (GRCm39) A36V probably benign Het
Cep57 A T 9: 13,730,170 (GRCm39) S123T probably damaging Het
Clca3a2 T A 3: 144,519,681 (GRCm39) Q231L probably damaging Het
Clcnkb T C 4: 141,142,500 (GRCm39) probably benign Het
Crabp2 C A 3: 87,860,301 (GRCm39) T125K probably benign Het
Dennd3 A G 15: 73,426,950 (GRCm39) T776A possibly damaging Het
Dnajb6 T C 5: 29,990,091 (GRCm39) probably benign Het
Dsp T A 13: 38,380,593 (GRCm39) I1847N probably damaging Het
Dync1h1 T C 12: 110,599,362 (GRCm39) probably benign Het
Ecpas A G 4: 58,879,100 (GRCm39) I63T probably damaging Het
Fbn1 A C 2: 125,163,654 (GRCm39) F2067L possibly damaging Het
Fbxo16 T A 14: 65,532,835 (GRCm39) probably null Het
Gm3604 C A 13: 62,517,888 (GRCm39) G157* probably null Het
Gm5250 A G 1: 13,132,564 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,067,007 (GRCm39) S503P possibly damaging Het
Herc4 T A 10: 63,099,950 (GRCm39) C124* probably null Het
Ift27 T C 15: 78,050,181 (GRCm39) D76G probably null Het
Igdcc3 C T 9: 65,090,034 (GRCm39) Q550* probably null Het
Igsf6 T A 7: 120,667,522 (GRCm39) I165F probably damaging Het
Il31ra T C 13: 112,677,773 (GRCm39) I173M probably damaging Het
Kbtbd6 G A 14: 79,690,045 (GRCm39) D247N probably benign Het
Kcnq2 T A 2: 180,742,350 (GRCm39) T394S probably benign Het
Mia2 A G 12: 59,196,361 (GRCm39) probably benign Het
Mvp T C 7: 126,591,933 (GRCm39) Q419R probably benign Het
Mylk A G 16: 34,773,152 (GRCm39) D1250G probably benign Het
Necab1 A G 4: 15,111,267 (GRCm39) Y54H probably damaging Het
Nlk T A 11: 78,477,853 (GRCm39) M297L probably benign Het
Nsl1 G T 1: 190,795,385 (GRCm39) M50I probably benign Het
Numa1 A G 7: 101,660,257 (GRCm39) T441A probably damaging Het
Ofd1 A G X: 165,189,002 (GRCm39) Y755H probably benign Het
Or10d1c G A 9: 38,894,190 (GRCm39) S50F probably damaging Het
Or6c69b C T 10: 129,627,000 (GRCm39) V153I probably benign Het
Or8b12i G A 9: 20,082,105 (GRCm39) T254I probably benign Het
Ovgp1 A T 3: 105,885,114 (GRCm39) H151L possibly damaging Het
Pigz G A 16: 31,763,397 (GRCm39) E152K probably damaging Het
Plxna1 A T 6: 89,312,446 (GRCm39) D779E probably benign Het
Ptprq C T 10: 107,520,950 (GRCm39) G741S probably damaging Het
Rplp0 T C 5: 115,700,524 (GRCm39) Y231H probably benign Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rundc3b T C 5: 8,629,050 (GRCm39) E117G probably damaging Het
Ryr2 A C 13: 11,760,062 (GRCm39) probably null Het
Ryr3 A T 2: 112,787,598 (GRCm39) M198K probably damaging Het
Sdhd T C 9: 50,508,500 (GRCm39) K122R probably benign Het
Senp2 T C 16: 21,861,810 (GRCm39) probably benign Het
Setd3 C A 12: 108,131,420 (GRCm39) G2V probably damaging Het
Sfxn5 A G 6: 85,244,927 (GRCm39) probably benign Het
She T A 3: 89,739,345 (GRCm39) S179T possibly damaging Het
Slc24a2 G A 4: 87,094,526 (GRCm39) T331I probably benign Het
Slc45a3 T C 1: 131,904,694 (GRCm39) W6R possibly damaging Het
Slc9a4 T C 1: 40,668,447 (GRCm39) S697P probably benign Het
Soat1 C T 1: 156,269,991 (GRCm39) V143I probably benign Het
Sp8 T A 12: 118,813,302 (GRCm39) F386I probably damaging Het
Spata31d1b A G 13: 59,864,381 (GRCm39) T510A probably benign Het
Srgap2 T A 1: 131,339,588 (GRCm39) I125F probably damaging Het
Stab2 T A 10: 86,793,680 (GRCm39) I472F possibly damaging Het
Taar7f C T 10: 23,925,546 (GRCm39) R47C probably benign Het
Tbc1d19 T A 5: 54,046,653 (GRCm39) probably null Het
Tbc1d21 T A 9: 58,274,011 (GRCm39) probably benign Het
Tcaf1 A G 6: 42,655,389 (GRCm39) I529T possibly damaging Het
Tgfbr2 A T 9: 116,004,035 (GRCm39) I24N possibly damaging Het
Tgm1 T C 14: 55,946,854 (GRCm39) T385A probably damaging Het
Tgm2 T C 2: 157,973,379 (GRCm39) N244S probably benign Het
Thoc5 T C 11: 4,864,517 (GRCm39) probably benign Het
Tmc2 A T 2: 130,076,789 (GRCm39) I372F probably damaging Het
Tnrc6a A G 7: 122,770,520 (GRCm39) D222G probably damaging Het
Trhde T G 10: 114,636,508 (GRCm39) N233T probably benign Het
Tstd3 T C 4: 21,759,475 (GRCm39) Y99C probably damaging Het
Ttc22 A T 4: 106,496,237 (GRCm39) D429V possibly damaging Het
Ugcg A G 4: 59,207,775 (GRCm39) N38S probably benign Het
Ush2a A G 1: 188,460,400 (GRCm39) I2554V possibly damaging Het
Usp16 A G 16: 87,276,204 (GRCm39) D513G probably damaging Het
Vip T C 10: 5,594,992 (GRCm39) probably null Het
Vmn1r4 A G 6: 56,934,023 (GRCm39) I176V probably benign Het
Zfp804b T C 5: 6,819,806 (GRCm39) T1050A probably damaging Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02409:Ppil4 APN 10 7,674,328 (GRCm39) intron probably benign
IGL02504:Ppil4 APN 10 7,696,748 (GRCm39) nonsense probably null
R0105:Ppil4 UTSW 10 7,674,210 (GRCm39) missense probably damaging 1.00
R0105:Ppil4 UTSW 10 7,674,210 (GRCm39) missense probably damaging 1.00
R1056:Ppil4 UTSW 10 7,675,396 (GRCm39) missense possibly damaging 0.93
R1743:Ppil4 UTSW 10 7,683,145 (GRCm39) missense probably damaging 1.00
R3743:Ppil4 UTSW 10 7,696,935 (GRCm39) missense unknown
R3747:Ppil4 UTSW 10 7,690,457 (GRCm39) missense probably benign 0.07
R5634:Ppil4 UTSW 10 7,690,542 (GRCm39) missense probably benign
R5685:Ppil4 UTSW 10 7,674,186 (GRCm39) missense probably damaging 1.00
R5820:Ppil4 UTSW 10 7,686,174 (GRCm39) missense probably null 0.13
R6546:Ppil4 UTSW 10 7,674,186 (GRCm39) missense probably damaging 1.00
R8221:Ppil4 UTSW 10 7,671,444 (GRCm39) missense probably benign 0.32
R9495:Ppil4 UTSW 10 7,675,355 (GRCm39) missense probably damaging 1.00
R9698:Ppil4 UTSW 10 7,683,033 (GRCm39) critical splice acceptor site probably null
R9709:Ppil4 UTSW 10 7,675,341 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CTCCCACTGTGTGCTTTCATAAGTAGTC -3'
(R):5'- GTACTGAACTGGAAGGAGCCCTAGA -3'

Sequencing Primer
(F):5'- TGTGCTTTCATAAGTAGTCCTTTG -3'
(R):5'- gtgccctcttctgttacacc -3'
Posted On 2014-05-23