Incidental Mutation 'R2382:Ppwd1'
ID 247581
Institutional Source Beutler Lab
Gene Symbol Ppwd1
Ensembl Gene ENSMUSG00000021713
Gene Name peptidylprolyl isomerase domain and WD repeat containing 1
Synonyms 4632422M10Rik, A330090G21Rik
MMRRC Submission 040357-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R2382 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 104205124-104228843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104207113 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 595 (T595A)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000022226] [ENSMUST00000069187]
AlphaFold Q8CEC6
Predicted Effect probably benign
Transcript: ENSMUST00000022225
SMART Domains Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712

DomainStartEndE-ValueType
RING 31 75 3.07e-5 SMART
BBOX 122 168 3.07e-1 SMART
BBOX 173 219 1.32e-4 SMART
BBC 226 370 2.89e-41 SMART
ARF 387 569 1.15e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022226
AA Change: T595A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: T595A

DomainStartEndE-ValueType
WD40 80 117 2.96e-2 SMART
WD40 122 161 8.49e-3 SMART
Blast:WD40 164 207 9e-6 BLAST
WD40 211 251 2.76e0 SMART
WD40 269 308 1.4e-3 SMART
Blast:WD40 343 382 2e-6 BLAST
Blast:WD40 433 460 3e-7 BLAST
Pfam:Pro_isomerase 493 645 1.9e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069187
SMART Domains Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712

DomainStartEndE-ValueType
RING 31 75 3.07e-5 SMART
BBOX 122 168 3.07e-1 SMART
BBOX 173 219 5.95e-3 SMART
BBC 182 309 8.07e-22 SMART
ARF 326 508 1.15e-78 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 (GRCm38) E685* probably null Het
2700049A03Rik A T 12: 71,164,547 (GRCm38) E685V possibly damaging Het
Aarsd1 T A 11: 101,414,078 (GRCm38) I64F probably damaging Het
Agrn T A 4: 156,176,516 (GRCm38) D574V probably damaging Het
Atg4b T C 1: 93,784,842 (GRCm38) C16R probably damaging Het
Ccdc141 A T 2: 77,011,542 (GRCm38) L1515Q probably damaging Het
Ccdc141 A T 2: 77,074,998 (GRCm38) V368E probably benign Het
Clk1 A T 1: 58,421,289 (GRCm38) S61T probably benign Het
Dhx38 A T 8: 109,556,140 (GRCm38) D631E probably damaging Het
Dner C G 1: 84,370,823 (GRCm38) E719Q probably damaging Het
E030025P04Rik G A 11: 109,144,054 (GRCm38) Q3* probably null Het
Eif4g2 T A 7: 111,075,046 (GRCm38) T613S probably benign Het
Fn1 C G 1: 71,648,119 (GRCm38) G193A probably damaging Het
Gls2 A G 10: 128,203,842 (GRCm38) E286G probably damaging Het
Gm21286 A G 4: 60,838,284 (GRCm38) noncoding transcript Het
Gm6614 G A 6: 141,990,480 (GRCm38) S293F probably benign Het
Gm813 T C 16: 58,615,876 (GRCm38) probably null Het
Hoxa13 A T 6: 52,259,145 (GRCm38) V304D probably damaging Het
Hpse2 A T 19: 42,931,622 (GRCm38) M346K probably benign Het
Igkv1-99 A T 6: 68,542,497 (GRCm38) probably benign Het
Kcnq2 A G 2: 181,112,107 (GRCm38) Y237H probably damaging Het
Kmt2a T A 9: 44,820,910 (GRCm38) probably benign Het
Kntc1 A G 5: 123,760,348 (GRCm38) D180G probably damaging Het
Macf1 G A 4: 123,374,832 (GRCm38) T4682M probably damaging Het
Mfsd6 T A 1: 52,708,410 (GRCm38) H432L probably benign Het
Mgat5b T A 11: 116,919,496 (GRCm38) D7E probably damaging Het
Msh6 G A 17: 87,984,731 (GRCm38) V305I probably benign Het
Notch1 A T 2: 26,473,781 (GRCm38) H880Q probably benign Het
Olfr117 A C 17: 37,659,931 (GRCm38) V134G probably benign Het
Olfr1353 G A 10: 78,970,156 (GRCm38) C169Y probably damaging Het
Olfr57 A T 10: 79,035,134 (GRCm38) I113F possibly damaging Het
Pmepa1 G A 2: 173,228,133 (GRCm38) R210W probably damaging Het
Pnliprp2 A G 19: 58,768,630 (GRCm38) N308S probably benign Het
Prdm13 T C 4: 21,678,277 (GRCm38) T738A possibly damaging Het
Rab11fip3 T A 17: 25,990,867 (GRCm38) K1062* probably null Het
Reep3 A T 10: 67,096,790 (GRCm38) V11E possibly damaging Het
Slco3a1 T C 7: 74,346,776 (GRCm38) D294G probably benign Het
Sycp2 A G 2: 178,378,018 (GRCm38) probably null Het
Zfp292 A G 4: 34,806,426 (GRCm38) V2206A possibly damaging Het
Other mutations in Ppwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ppwd1 APN 13 104,217,143 (GRCm38) missense probably damaging 1.00
IGL01582:Ppwd1 APN 13 104,213,704 (GRCm38) missense probably benign 0.01
IGL01697:Ppwd1 APN 13 104,220,464 (GRCm38) missense probably benign 0.01
IGL01771:Ppwd1 APN 13 104,217,116 (GRCm38) missense probably damaging 1.00
IGL02414:Ppwd1 APN 13 104,223,137 (GRCm38) missense probably benign
IGL02803:Ppwd1 APN 13 104,213,684 (GRCm38) missense probably benign 0.00
IGL02873:Ppwd1 APN 13 104,209,753 (GRCm38) missense probably damaging 1.00
F5770:Ppwd1 UTSW 13 104,220,237 (GRCm38) missense probably damaging 0.98
R0462:Ppwd1 UTSW 13 104,222,960 (GRCm38) critical splice acceptor site probably null
R1638:Ppwd1 UTSW 13 104,220,263 (GRCm38) missense probably damaging 1.00
R2211:Ppwd1 UTSW 13 104,207,142 (GRCm38) missense probably benign 0.26
R2226:Ppwd1 UTSW 13 104,217,245 (GRCm38) missense probably damaging 1.00
R2299:Ppwd1 UTSW 13 104,220,063 (GRCm38) missense probably benign
R2353:Ppwd1 UTSW 13 104,213,582 (GRCm38) missense probably benign
R3123:Ppwd1 UTSW 13 104,213,690 (GRCm38) missense possibly damaging 0.90
R4521:Ppwd1 UTSW 13 104,209,659 (GRCm38) missense probably benign 0.16
R4972:Ppwd1 UTSW 13 104,220,108 (GRCm38) missense probably benign 0.00
R5125:Ppwd1 UTSW 13 104,220,435 (GRCm38) missense probably benign 0.14
R5178:Ppwd1 UTSW 13 104,220,435 (GRCm38) missense probably benign 0.14
R5468:Ppwd1 UTSW 13 104,225,444 (GRCm38) missense possibly damaging 0.52
R5638:Ppwd1 UTSW 13 104,220,398 (GRCm38) missense probably damaging 1.00
R6748:Ppwd1 UTSW 13 104,208,030 (GRCm38) nonsense probably null
R7095:Ppwd1 UTSW 13 104,205,626 (GRCm38) missense probably benign 0.21
R7201:Ppwd1 UTSW 13 104,207,172 (GRCm38) missense probably damaging 1.00
R7206:Ppwd1 UTSW 13 104,213,598 (GRCm38) missense probably damaging 0.99
R7664:Ppwd1 UTSW 13 104,220,290 (GRCm38) missense probably damaging 1.00
R7746:Ppwd1 UTSW 13 104,217,206 (GRCm38) missense probably damaging 1.00
R9259:Ppwd1 UTSW 13 104,223,104 (GRCm38) missense probably damaging 1.00
R9354:Ppwd1 UTSW 13 104,205,572 (GRCm38) missense probably benign 0.00
R9408:Ppwd1 UTSW 13 104,209,647 (GRCm38) missense possibly damaging 0.74
V7580:Ppwd1 UTSW 13 104,220,237 (GRCm38) missense probably damaging 0.98
V7581:Ppwd1 UTSW 13 104,220,237 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACATTGCCTACTAGACAGAAATAGTG -3'
(R):5'- AGAGATAACTGCACTTCATATACCC -3'

Sequencing Primer
(F):5'- GCCTACTAGACAGAAATAGTGTTTTC -3'
(R):5'- ATACTTTCTGTTACCAGGGCTTCATG -3'
Posted On 2014-11-11