Incidental Mutation 'R3702:Ppig'
ID 258553
Institutional Source Beutler Lab
Gene Symbol Ppig
Ensembl Gene ENSMUSG00000042133
Gene Name peptidyl-prolyl isomerase G (cyclophilin G)
Synonyms SRCyp, B230312B02Rik
MMRRC Submission 040695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R3702 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 69553152-69584356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69563553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 89 (S89T)
Ref Sequence ENSEMBL: ENSMUSP00000088370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040915] [ENSMUST00000090858] [ENSMUST00000144652]
AlphaFold A2AR02
Predicted Effect probably damaging
Transcript: ENSMUST00000040915
AA Change: S89T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: S89T

DomainStartEndE-ValueType
Pfam:Pro_isomerase 11 176 2.8e-50 PFAM
low complexity region 180 258 N/A INTRINSIC
low complexity region 272 280 N/A INTRINSIC
low complexity region 295 307 N/A INTRINSIC
low complexity region 334 354 N/A INTRINSIC
low complexity region 417 433 N/A INTRINSIC
low complexity region 441 478 N/A INTRINSIC
internal_repeat_1 483 518 1.1e-9 PROSPERO
internal_repeat_2 485 555 1.1e-9 PROSPERO
internal_repeat_3 506 556 4.26e-7 PROSPERO
internal_repeat_1 521 556 1.1e-9 PROSPERO
low complexity region 559 586 N/A INTRINSIC
low complexity region 591 637 N/A INTRINSIC
internal_repeat_3 646 693 4.26e-7 PROSPERO
internal_repeat_4 653 686 6.68e-6 PROSPERO
internal_repeat_2 661 735 1.1e-9 PROSPERO
internal_repeat_4 711 744 6.68e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000090858
AA Change: S89T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: S89T

DomainStartEndE-ValueType
Pfam:Pro_isomerase 11 176 2.7e-49 PFAM
low complexity region 180 258 N/A INTRINSIC
low complexity region 272 280 N/A INTRINSIC
low complexity region 295 307 N/A INTRINSIC
low complexity region 334 354 N/A INTRINSIC
low complexity region 417 433 N/A INTRINSIC
low complexity region 441 478 N/A INTRINSIC
internal_repeat_1 483 518 1.1e-9 PROSPERO
internal_repeat_2 485 555 1.1e-9 PROSPERO
internal_repeat_3 506 556 4.26e-7 PROSPERO
internal_repeat_1 521 556 1.1e-9 PROSPERO
low complexity region 559 586 N/A INTRINSIC
low complexity region 591 637 N/A INTRINSIC
internal_repeat_3 646 693 4.26e-7 PROSPERO
internal_repeat_4 653 686 6.68e-6 PROSPERO
internal_repeat_2 661 735 1.1e-9 PROSPERO
internal_repeat_4 711 744 6.68e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134424
Predicted Effect probably damaging
Transcript: ENSMUST00000144652
AA Change: S89T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133
AA Change: S89T

DomainStartEndE-ValueType
Pfam:Pro_isomerase 11 127 8.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142839
Meta Mutation Damage Score 0.8128 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,178,884 (GRCm39) probably null Het
Aopep A T 13: 63,163,144 (GRCm39) N55I probably benign Het
Cacna1a T G 8: 85,344,475 (GRCm39) S1846A probably damaging Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Calhm3 T A 19: 47,140,187 (GRCm39) D302V possibly damaging Het
Cluh A G 11: 74,556,182 (GRCm39) M878V probably benign Het
Col24a1 C T 3: 145,043,621 (GRCm39) H603Y probably benign Het
Commd1 T A 11: 22,924,057 (GRCm39) L277H probably damaging Het
Cpped1 G T 16: 11,646,304 (GRCm39) D135E probably damaging Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Elfn1 A G 5: 139,958,114 (GRCm39) T373A probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fcgbpl1 G A 7: 27,857,203 (GRCm39) V2184M probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Grik4 T C 9: 42,586,514 (GRCm39) K114E probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Itgb1bp2 T C X: 100,495,293 (GRCm39) probably benign Het
Lrp1 C A 10: 127,430,972 (GRCm39) R359L probably damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Mtmr10 T C 7: 63,987,647 (GRCm39) L729P probably damaging Het
Myot T A 18: 44,487,162 (GRCm39) probably null Het
Obox2 G T 7: 15,130,882 (GRCm39) R38L probably benign Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Pcdha3 A G 18: 37,080,401 (GRCm39) Q381R probably benign Het
Pip4k2b A G 11: 97,620,374 (GRCm39) probably benign Het
Prune2 A G 19: 17,156,235 (GRCm39) D47G probably damaging Het
Sh2b2 A G 5: 136,253,087 (GRCm39) S362P probably damaging Het
Snap91 G A 9: 86,688,573 (GRCm39) T322I probably damaging Het
Taf3 G A 2: 9,957,372 (GRCm39) T112I possibly damaging Het
Tcea1 T C 1: 4,965,158 (GRCm39) V276A probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tomm40 G T 7: 19,447,598 (GRCm39) T144K possibly damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp326 A G 5: 106,036,709 (GRCm39) probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Other mutations in Ppig
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Ppig APN 2 69,580,060 (GRCm39) missense unknown
IGL00780:Ppig APN 2 69,563,268 (GRCm39) missense possibly damaging 0.89
IGL02043:Ppig APN 2 69,566,327 (GRCm39) splice site probably null
IGL02420:Ppig APN 2 69,562,571 (GRCm39) missense probably benign 0.03
IGL02736:Ppig APN 2 69,566,438 (GRCm39) missense probably damaging 1.00
R0358:Ppig UTSW 2 69,573,942 (GRCm39) splice site probably benign
R0396:Ppig UTSW 2 69,566,320 (GRCm39) unclassified probably benign
R1035:Ppig UTSW 2 69,579,803 (GRCm39) missense unknown
R1159:Ppig UTSW 2 69,580,568 (GRCm39) missense unknown
R1396:Ppig UTSW 2 69,579,362 (GRCm39) missense unknown
R1593:Ppig UTSW 2 69,579,425 (GRCm39) missense unknown
R1629:Ppig UTSW 2 69,566,217 (GRCm39) missense probably damaging 1.00
R1799:Ppig UTSW 2 69,579,744 (GRCm39) missense unknown
R2001:Ppig UTSW 2 69,571,988 (GRCm39) missense unknown
R2112:Ppig UTSW 2 69,580,451 (GRCm39) missense unknown
R3855:Ppig UTSW 2 69,579,719 (GRCm39) missense unknown
R4999:Ppig UTSW 2 69,571,830 (GRCm39) missense unknown
R5001:Ppig UTSW 2 69,571,830 (GRCm39) missense unknown
R5153:Ppig UTSW 2 69,579,994 (GRCm39) missense unknown
R5218:Ppig UTSW 2 69,563,127 (GRCm39) intron probably benign
R5336:Ppig UTSW 2 69,580,568 (GRCm39) missense unknown
R5410:Ppig UTSW 2 69,566,241 (GRCm39) missense probably null 1.00
R5443:Ppig UTSW 2 69,564,635 (GRCm39) missense probably damaging 1.00
R5513:Ppig UTSW 2 69,580,703 (GRCm39) missense probably benign 0.23
R6179:Ppig UTSW 2 69,580,471 (GRCm39) missense unknown
R6333:Ppig UTSW 2 69,579,902 (GRCm39) missense unknown
R6604:Ppig UTSW 2 69,571,925 (GRCm39) missense unknown
R6932:Ppig UTSW 2 69,562,755 (GRCm39) missense probably benign 0.40
R7206:Ppig UTSW 2 69,571,910 (GRCm39) missense unknown
R7220:Ppig UTSW 2 69,580,320 (GRCm39) missense unknown
R7308:Ppig UTSW 2 69,579,806 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGGGTGGTGACTTCAGTGAAG -3'
(R):5'- CTGAACCTCCATCAGAGCATTG -3'

Sequencing Primer
(F):5'- GGACAATTTACAAGAGTCAGTCCTC -3'
(R):5'- GAACCTCCATCAGAGCATTGTTTAC -3'
Posted On 2015-01-23