Incidental Mutation 'R2302:Ppil6'
ID 244463
Institutional Source Beutler Lab
Gene Symbol Ppil6
Ensembl Gene ENSMUSG00000078451
Gene Name peptidylprolyl isomerase (cyclophilin)-like 6
Synonyms 2900084F20Rik
MMRRC Submission 040301-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R2302 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41366435-41390282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41377795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 169 (C169S)
Ref Sequence ENSEMBL: ENSMUSP00000101146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105507]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000105507
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101146
Gene: ENSMUSG00000078451
AA Change: C169S

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
Pfam:Pro_isomerase 147 310 1.3e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000214145
AA Change: C18S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215608
Meta Mutation Damage Score 0.7945 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat2 A T 2: 26,494,207 (GRCm39) W6R possibly damaging Het
Ahrr C A 13: 74,425,780 (GRCm39) V72F probably damaging Het
Ank1 G A 8: 23,609,415 (GRCm39) C1369Y probably damaging Het
Cdh3 C A 8: 107,271,701 (GRCm39) P538Q probably damaging Het
Cnn2 C G 10: 79,827,233 (GRCm39) R35G possibly damaging Het
Csmd3 C A 15: 48,177,447 (GRCm39) A364S probably benign Het
Dhcr7 A G 7: 143,391,629 (GRCm39) T73A probably benign Het
Gbp9 T C 5: 105,241,958 (GRCm39) N200D possibly damaging Het
Hyls1 T C 9: 35,475,365 (GRCm39) E3G possibly damaging Het
Ifngr1 T C 10: 19,485,393 (GRCm39) L464P probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lhfpl2 T C 13: 94,311,054 (GRCm39) V108A probably benign Het
Lrrc7 C G 3: 157,840,881 (GRCm39) G1386R probably damaging Het
Mlc1 A G 15: 88,849,640 (GRCm39) V231A possibly damaging Het
Mup4 T A 4: 59,960,702 (GRCm39) probably null Het
Myh8 A T 11: 67,177,065 (GRCm39) R406W probably damaging Het
Poldip3 T C 15: 83,013,469 (GRCm39) probably benign Het
Pomt1 G A 2: 32,133,671 (GRCm39) G216S probably benign Het
Prokr2 A G 2: 132,223,104 (GRCm39) I146T probably damaging Het
Rab3b T C 4: 108,786,640 (GRCm39) V130A probably damaging Het
Reck T A 4: 43,931,015 (GRCm39) I672N probably benign Het
Scn1a T C 2: 66,108,089 (GRCm39) T1546A probably damaging Het
Sftpd T A 14: 40,894,399 (GRCm39) E340V probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Slfn10-ps A T 11: 82,919,756 (GRCm39) noncoding transcript Het
Svopl A T 6: 38,018,101 (GRCm39) probably benign Het
Tbx5 A G 5: 119,979,924 (GRCm39) K157E probably damaging Het
Ttn A T 2: 76,724,696 (GRCm39) C6333S probably benign Het
Zfp609 T C 9: 65,702,179 (GRCm39) K158E possibly damaging Het
Zscan20 T C 4: 128,482,057 (GRCm39) N535S probably damaging 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
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
R6683:Ppil6 UTSW 10 41,374,427 (GRCm39) missense probably benign
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'- ACTTTCTTACACAACGTTGACCTG -3'
(R):5'- CGTGAAAGTCTGGGAACTTATTTAG -3'

Sequencing Primer
(F):5'- CTTTCTCCAATTGGAAGACT -3'
(R):5'- AGTTTTAGTTTTCAGCTCACCTCC -3'
Posted On 2014-10-30