Incidental Mutation 'R6683:Ppil6'
ID 527584
Institutional Source Beutler Lab
Gene Symbol Ppil6
Ensembl Gene ENSMUSG00000078451
Gene Name peptidylprolyl isomerase (cyclophilin)-like 6
Synonyms 2900084F20Rik
MMRRC Submission 044802-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41366435-41390282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41374427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 103 (N103D)
Ref Sequence ENSEMBL: ENSMUSP00000101146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105507]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000105507
AA Change: N103D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101146
Gene: ENSMUSG00000078451
AA Change: N103D

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
Pfam:Pro_isomerase 147 310 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215608
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T C 1: 74,321,604 (GRCm39) E169G possibly damaging Het
Acat2 G A 17: 13,162,814 (GRCm39) R377C probably benign Het
Adgrg6 A G 10: 14,331,911 (GRCm39) V398A probably damaging Het
BC025920 A G 10: 81,445,135 (GRCm39) H86R probably damaging Het
BC028528 T C 3: 95,795,539 (GRCm39) T88A probably damaging Het
Creb3l4 T A 3: 90,145,112 (GRCm39) T347S probably benign Het
Dhcr7 T C 7: 143,397,048 (GRCm39) V180A probably damaging Het
Fam187a T C 11: 102,777,015 (GRCm39) V273A probably damaging Het
Hdgfl3 G A 7: 81,550,101 (GRCm39) R78W possibly damaging Het
Krt8 T C 15: 101,906,439 (GRCm39) T357A probably benign Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,339,354 (GRCm39) probably benign Het
Ly6d A T 15: 74,634,299 (GRCm39) V97D probably benign Het
Map3k13 T C 16: 21,711,062 (GRCm39) I115T probably benign Het
Muc2 G A 7: 141,305,214 (GRCm39) V173I probably benign Het
Nck2 T C 1: 43,608,338 (GRCm39) S327P probably benign Het
Ncoa7 T C 10: 30,647,717 (GRCm39) R20G probably damaging Het
Nlrp4f G A 13: 65,347,009 (GRCm39) T83I probably benign Het
Nploc4 A G 11: 120,274,156 (GRCm39) S546P probably damaging Het
Or1e1d-ps1 A G 11: 73,818,939 (GRCm39) Y36C probably damaging Het
Or51g2 C T 7: 102,622,920 (GRCm39) R93Q probably benign Het
Or52e8 C T 7: 104,625,175 (GRCm39) V10I probably benign Het
Or5b21 A G 19: 12,840,014 (GRCm39) S292G probably damaging Het
Panx1 T C 9: 14,919,307 (GRCm39) E184G probably benign Het
Parp14 T C 16: 35,655,047 (GRCm39) Y1808C probably damaging Het
Plcb1 A T 2: 134,628,513 (GRCm39) S21C probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Rapgef4 A T 2: 71,885,123 (GRCm39) probably benign Het
Rlf A G 4: 121,005,123 (GRCm39) S1286P probably damaging Het
Rnf217 A G 10: 31,410,822 (GRCm39) V291A possibly damaging Het
Serpina3a T C 12: 104,085,896 (GRCm39) M117T probably benign Het
St8sia4 T C 1: 95,581,424 (GRCm39) D106G probably damaging Het
Tjp2 A G 19: 24,098,207 (GRCm39) I485T probably damaging Het
Trdc T C 14: 54,381,692 (GRCm39) probably benign Het
Ttn A G 2: 76,541,004 (GRCm39) L33994P probably damaging Het
Vmn2r42 T A 7: 8,187,224 (GRCm39) K799N probably damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly damaging Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T probably benign Het
Other mutations in Ppil6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Ppil6 APN 10 41,374,406 (GRCm39) missense probably benign 0.00
IGL01453:Ppil6 APN 10 41,374,473 (GRCm39) missense probably benign
IGL02964:Ppil6 APN 10 41,383,479 (GRCm39) missense probably benign 0.13
R0827:Ppil6 UTSW 10 41,370,500 (GRCm39) unclassified probably benign
R1661:Ppil6 UTSW 10 41,390,176 (GRCm39) missense probably benign 0.03
R2302:Ppil6 UTSW 10 41,377,795 (GRCm39) missense probably damaging 1.00
R2844:Ppil6 UTSW 10 41,377,689 (GRCm39) splice site probably benign
R4258:Ppil6 UTSW 10 41,383,531 (GRCm39) nonsense probably null
R5098:Ppil6 UTSW 10 41,366,616 (GRCm39) missense probably null 1.00
R5455:Ppil6 UTSW 10 41,374,541 (GRCm39) missense probably benign 0.15
R5530:Ppil6 UTSW 10 41,383,494 (GRCm39) missense probably damaging 1.00
R7288:Ppil6 UTSW 10 41,374,524 (GRCm39) missense probably benign 0.03
R7843:Ppil6 UTSW 10 41,377,862 (GRCm39) missense probably benign
R9424:Ppil6 UTSW 10 41,379,024 (GRCm39) missense probably damaging 1.00
R9590:Ppil6 UTSW 10 41,366,478 (GRCm39) start codon destroyed probably null 0.95
R9630:Ppil6 UTSW 10 41,370,550 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- ATGAGATTCTGGAGTTGGCC -3'
(R):5'- GAACCCATAATCCTTTGCAACTG -3'

Sequencing Primer
(F):5'- CCAGTCGGGCTGTAGAATTC -3'
(R):5'- CCCTGGGGATTACACCTTAATC -3'
Posted On 2018-07-23