Incidental Mutation 'R6333:Ppig'
ID 513220
Institutional Source Beutler Lab
Gene Symbol Ppig
Ensembl Gene ENSMUSG00000042133
Gene Name peptidyl-prolyl isomerase G (cyclophilin G)
Synonyms SRCyp, B230312B02Rik
MMRRC Submission 044487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R6333 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 69553152-69584356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69579902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 479 (H479Y)
Ref Sequence ENSEMBL: ENSMUSP00000088370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040915] [ENSMUST00000090858]
AlphaFold A2AR02
Predicted Effect unknown
Transcript: ENSMUST00000040915
AA Change: H479Y
SMART Domains Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: H479Y

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 unknown
Transcript: ENSMUST00000090858
AA Change: H479Y
SMART Domains Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: H479Y

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: ENSMUST00000143954
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.9%
  • 20x: 93.2%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik T C 9: 15,203,372 (GRCm39) K111R probably benign Het
Abhd18 A G 3: 40,888,218 (GRCm39) Y354C probably benign Het
Acap1 T C 11: 69,774,427 (GRCm39) I424V possibly damaging Het
AI182371 A T 2: 34,975,281 (GRCm39) I306K probably damaging Het
Asb4 G A 6: 5,423,597 (GRCm39) R248H probably damaging Het
Brd7 T C 8: 89,071,819 (GRCm39) T349A probably damaging Het
Bub1b T C 2: 118,428,944 (GRCm39) probably null Het
Cep85l G A 10: 53,225,197 (GRCm39) Q131* probably null Het
Chmp2b T A 16: 65,337,136 (GRCm39) M178L possibly damaging Het
Chrnb3 A G 8: 27,883,355 (GRCm39) N84D probably damaging Het
Clec4b2 A T 6: 123,177,637 (GRCm39) probably null Het
Defa34 T C 8: 22,155,862 (GRCm39) V17A probably benign Het
Dnah3 A T 7: 119,653,856 (GRCm39) L947Q probably damaging Het
Dynlt2a1 G A 17: 15,261,717 (GRCm39) probably benign Het
Ell A G 8: 71,044,188 (GRCm39) Y578C probably damaging Het
Esp36 T A 17: 38,728,135 (GRCm39) M49L probably benign Het
Fbxw19 A T 9: 109,323,751 (GRCm39) W75R probably benign Het
Fcgr4 A G 1: 170,856,838 (GRCm39) Y235C probably damaging Het
Gm10110 A C 14: 90,135,733 (GRCm39) noncoding transcript Het
Gm13030 A T 4: 138,598,708 (GRCm39) probably null Het
Hdac9 T C 12: 34,102,323 (GRCm39) M1058V probably damaging Het
Hsd3b6 A G 3: 98,713,540 (GRCm39) F253S probably damaging Het
Hspg2 T C 4: 137,289,266 (GRCm39) Y3794H probably damaging Het
Mark4 G A 7: 19,177,208 (GRCm39) T207M probably damaging Het
Mme A G 3: 63,249,382 (GRCm39) T304A probably benign Het
Neb A G 2: 52,148,275 (GRCm39) L2657P probably damaging Het
Nufip1 A C 14: 76,349,425 (GRCm39) K152N probably damaging Het
Pcdh1 A G 18: 38,331,860 (GRCm39) V381A probably benign Het
Pdss1 A G 2: 22,791,778 (GRCm39) T30A probably damaging Het
Plrg1 A G 3: 82,964,102 (GRCm39) T12A probably damaging Het
Prokr2 A G 2: 132,215,898 (GRCm39) F188L probably damaging Het
Prss39 A G 1: 34,539,150 (GRCm39) N130S probably benign Het
Ptar1 G A 19: 23,671,686 (GRCm39) D30N possibly damaging Het
Rai14 G T 15: 10,575,022 (GRCm39) Y645* probably null Het
Rnasek T C 11: 70,129,252 (GRCm39) Y67C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,354,192 (GRCm39) V4023A probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Sctr T C 1: 119,984,182 (GRCm39) F357L probably damaging Het
Sec14l5 G A 16: 4,984,908 (GRCm39) V85I probably benign Het
Shld2 G A 14: 33,989,565 (GRCm39) T447M probably damaging Het
Sirpd T C 3: 15,385,671 (GRCm39) Y77C probably damaging Het
Spag8 T C 4: 43,653,186 (GRCm39) probably benign Het
Tbc1d2 T C 4: 46,620,736 (GRCm39) D358G possibly damaging Het
Tenm4 A G 7: 96,423,331 (GRCm39) T672A probably damaging Het
Tent2 G A 13: 93,322,821 (GRCm39) Q43* probably null Het
Trmt1l T A 1: 151,329,685 (GRCm39) S543T probably benign Het
Ube4b A G 4: 149,432,494 (GRCm39) F810S probably damaging Het
Vmn2r104 C T 17: 20,249,848 (GRCm39) V808I probably benign Het
Zfp3 T A 11: 70,662,266 (GRCm39) I75N probably benign Het
Zwint A G 10: 72,490,784 (GRCm39) probably benign 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
R3702:Ppig UTSW 2 69,563,553 (GRCm39) missense probably damaging 1.00
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
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'- ACACATGTCTGAGAGTCCAAAC -3'
(R):5'- TGGACTGTGCACGTCTATCC -3'

Sequencing Primer
(F):5'- CATGTCTGAGAGTCCAAACAGAAAAG -3'
(R):5'- GGACTGTGCACGTCTATCCTTTTC -3'
Posted On 2018-04-27