Incidental Mutation 'R6748:Ppwd1'
ID 530661
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 044865-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 104205124-104228843 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 104208030 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 527 (Y527*)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226] [ENSMUST00000069187]
AlphaFold Q8CEC6
Predicted Effect probably null
Transcript: ENSMUST00000022226
AA Change: Y527*
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: Y527*

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 C A 1: 38,535,246 (GRCm38) R178I probably damaging Het
Agr3 A G 12: 35,947,595 (GRCm38) probably null Het
Aoc1 C T 6: 48,906,294 (GRCm38) T368I possibly damaging Het
Aph1c A G 9: 66,833,295 (GRCm38) S50P probably damaging Het
Arhgap30 A G 1: 171,404,810 (GRCm38) E341G possibly damaging Het
Atp8b3 A T 10: 80,525,224 (GRCm38) M926K possibly damaging Het
C1qtnf9 A G 14: 60,779,827 (GRCm38) N269D probably damaging Het
Cdc42bpb T C 12: 111,294,839 (GRCm38) probably benign Het
Clec4a1 T C 6: 122,933,897 (GRCm38) I237T possibly damaging Het
Clpx A G 9: 65,310,159 (GRCm38) N3S probably benign Het
Col19a1 A G 1: 24,534,070 (GRCm38) I207T unknown Het
Cyp2j8 T A 4: 96,475,545 (GRCm38) T294S probably benign Het
Dnah1 A G 14: 31,299,988 (GRCm38) I1186T probably damaging Het
Dnhd1 T G 7: 105,720,637 (GRCm38) V4423G probably benign Het
Dock4 A T 12: 40,704,466 (GRCm38) I485F probably benign Het
Drd2 T A 9: 49,403,202 (GRCm38) C244* probably null Het
Frmpd1 T A 4: 45,274,397 (GRCm38) I435K probably benign Het
Fzd5 A G 1: 64,735,564 (GRCm38) M346T possibly damaging Het
Gc T C 5: 89,435,572 (GRCm38) T371A probably benign Het
Gm12185 T A 11: 48,916,296 (GRCm38) T23S possibly damaging Het
Gm7792 T C 5: 93,852,213 (GRCm38) W38R probably benign Het
Hbq1a A G 11: 32,300,169 (GRCm38) probably null Het
Herc1 TCCC TCC 9: 66,501,188 (GRCm38) probably null Het
Il1rap A T 16: 26,722,356 (GRCm38) N449I probably benign Het
Itgb5 T A 16: 33,899,297 (GRCm38) D279E probably damaging Het
Mat2b T A 11: 40,680,194 (GRCm38) I268F probably benign Het
Mtor T C 4: 148,550,184 (GRCm38) F2421L probably damaging Het
Myo5b G A 18: 74,701,503 (GRCm38) R878Q possibly damaging Het
Nkx2-6 A G 14: 69,175,106 (GRCm38) D241G probably benign Het
Olfr1306 T A 2: 111,912,357 (GRCm38) N191I possibly damaging Het
Olfr191 T A 16: 59,085,890 (GRCm38) M198L probably benign Het
Pcdhb22 A C 18: 37,518,746 (GRCm38) D89A probably damaging Het
Pcnx2 C T 8: 125,850,335 (GRCm38) R986Q probably damaging Het
Plxna2 A G 1: 194,794,182 (GRCm38) probably null Het
Rnf126 A G 10: 79,762,136 (GRCm38) L131P probably benign Het
Rsl1 T A 13: 67,182,624 (GRCm38) C379S probably benign Het
Sec23b A G 2: 144,566,794 (GRCm38) Y133C probably damaging Het
Slc25a24 T A 3: 109,149,507 (GRCm38) V112D possibly damaging Het
Slc35f3 A T 8: 126,394,638 (GRCm38) R413* probably null Het
Tas1r2 T C 4: 139,669,611 (GRCm38) F754L probably damaging Het
Tbc1d14 A G 5: 36,495,254 (GRCm38) S615P probably damaging Het
Ttc17 T C 2: 94,386,102 (GRCm38) K80R probably benign Het
Ttn T C 2: 76,746,084 (GRCm38) T24822A possibly damaging Het
Vmn1r222 C A 13: 23,232,947 (GRCm38) R32L probably benign Het
Zfp354b G A 11: 50,922,832 (GRCm38) T422M probably damaging Het
Zfp407 G A 18: 84,208,830 (GRCm38) T2218M probably 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
R2382:Ppwd1 UTSW 13 104,207,113 (GRCm38) missense probably damaging 1.00
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
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'- AGGTTCTCCGAGGTTGCATG -3'
(R):5'- GACCGGATTATGAAGGACTGTC -3'

Sequencing Primer
(F):5'- CCGAGGTTGCATGTCATTATTGCTC -3'
(R):5'- CTTGAGAACATTAGAAAATGGA -3'
Posted On 2018-08-01