Incidental Mutation 'R3123:Ppwd1'
ID 264170
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 040596-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R3123 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 104205124-104228843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104213690 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 396 (E396K)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
AlphaFold Q8CEC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022226
AA Change: E396K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: E396K

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
Meta Mutation Damage Score 0.7174 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,358,580 (GRCm38) I646V possibly damaging Het
Atp4a G A 7: 30,720,225 (GRCm38) R671Q probably benign Het
Caskin2 T C 11: 115,804,797 (GRCm38) D246G probably damaging Het
Csn1s2b T C 5: 87,819,058 (GRCm38) probably benign Het
Ctsa T A 2: 164,835,232 (GRCm38) probably null Het
Cyp2j8 G A 4: 96,501,213 (GRCm38) probably benign Het
Dach2 T C X: 113,819,967 (GRCm38) I417T possibly damaging Het
Dcaf8l A T X: 89,404,721 (GRCm38) Y601N probably benign Het
Dhx9 T C 1: 153,465,706 (GRCm38) K599E possibly damaging Het
Duox2 A G 2: 122,281,073 (GRCm38) probably benign Het
F2rl3 T C 8: 72,763,212 (GRCm38) S356P probably damaging Het
Fem1b T C 9: 62,796,554 (GRCm38) I475V probably benign Het
Glra3 A G 8: 56,125,209 (GRCm38) R434G possibly damaging Het
Gpr75 T A 11: 30,891,709 (GRCm38) S205T possibly damaging Het
Hsd17b12 C T 2: 94,033,958 (GRCm38) R268Q probably benign Het
Htt T C 5: 34,804,531 (GRCm38) S287P probably benign Het
Ifi27l2b T C 12: 103,451,335 (GRCm38) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm38) V201A possibly damaging Het
Khdrbs2 C A 1: 32,519,777 (GRCm38) R408L probably damaging Het
Lonp1 A G 17: 56,626,488 (GRCm38) I129T possibly damaging Het
Macc1 T C 12: 119,447,633 (GRCm38) F712S probably damaging Het
Mcpt8 A T 14: 56,083,941 (GRCm38) I22K probably damaging Het
Nop2 G A 6: 125,132,201 (GRCm38) probably benign Het
Or10ag53 A T 2: 87,252,791 (GRCm38) T285S possibly damaging Het
Or2l13 A G 16: 19,487,015 (GRCm38) Y59C probably damaging Het
Or2y3 G A 17: 38,082,012 (GRCm38) probably null Het
Pkd1l1 T A 11: 8,973,021 (GRCm38) D82V unknown Het
Polr2a A T 11: 69,735,710 (GRCm38) S1566T possibly damaging Het
Prr30 A G 14: 101,198,989 (GRCm38) S46P probably benign Het
Pthlh A T 6: 147,263,291 (GRCm38) V27E probably damaging Het
Ptpn4 A G 1: 119,765,423 (GRCm38) probably null Het
Rad18 A T 6: 112,681,346 (GRCm38) D199E probably benign Het
Ralgps1 T C 2: 33,158,956 (GRCm38) T314A possibly damaging Het
Rbm27 A G 18: 42,327,165 (GRCm38) E764G probably damaging Het
Robo4 CGG CG 9: 37,411,490 (GRCm38) probably null Het
Taf15 G A 11: 83,504,328 (GRCm38) probably null Het
Tas2r140 T A 6: 133,055,241 (GRCm38) I185L probably benign Het
Tgfbr2 G A 9: 116,110,069 (GRCm38) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 98,867,129 (GRCm38) probably null Het
Togaram1 G T 12: 64,966,344 (GRCm38) R123L probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim9 C T 12: 70,248,393 (GRCm38) G648R probably damaging Het
Upf1 A G 8: 70,337,483 (GRCm38) probably benign Het
Vmn2r109 C T 17: 20,540,986 (GRCm38) C703Y probably damaging Het
Zfp574 G T 7: 25,081,601 (GRCm38) A683S possibly damaging Het
Zfp777 A G 6: 48,029,116 (GRCm38) probably benign 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
R2382:Ppwd1 UTSW 13 104,207,113 (GRCm38) missense probably damaging 1.00
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'- AATGTAATGGCCATCTCTCCAAGAG -3'
(R):5'- AGTTTGCCCTGTGGATCCTG -3'

Sequencing Primer
(F):5'- GGCCATCTCTCCAAGAGGATCAC -3'
(R):5'- CTGTGGATCCTGTCAAAAGCACTG -3'
Posted On 2015-02-05