Incidental Mutation 'R9408:Ppwd1'
ID 711684
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R9408 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 104205124-104228843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104209647 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 500 (M500T)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
AlphaFold Q8CEC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022226
AA Change: M500T

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: M500T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,545,067 (GRCm38) T1264I probably damaging Het
Aadac T A 3: 60,039,565 (GRCm38) V228E probably benign Het
Abca4 A T 3: 122,137,625 (GRCm38) R1436W probably benign Het
Abo A G 2: 26,848,275 (GRCm38) L39S probably benign Het
Acnat1 T A 4: 49,447,773 (GRCm38) R269S probably benign Het
Adap2 T C 11: 80,155,116 (GRCm38) V74A probably damaging Het
Ahctf1 C A 1: 179,776,073 (GRCm38) A803S possibly damaging Het
Ak6 A G 13: 100,655,495 (GRCm38) S149G probably benign Het
Ank T C 15: 27,591,502 (GRCm38) V444A probably damaging Het
Armt1 AC A 10: 4,450,848 (GRCm38) probably null Het
Atf7 A C 15: 102,553,851 (GRCm38) V112G probably damaging Het
Brca2 A G 5: 150,541,517 (GRCm38) Y1582C probably damaging Het
Bricd5 G T 17: 24,474,109 (GRCm38) probably benign Het
Bsn C A 9: 108,139,453 (GRCm38) E120* probably null Het
Cacna1g T G 11: 94,430,224 (GRCm38) N1348T probably damaging Het
Ccnc T G 4: 21,746,776 (GRCm38) probably null Het
Cd163 A G 6: 124,320,538 (GRCm38) D881G probably benign Het
Cep295 G A 9: 15,333,323 (GRCm38) P1279L probably benign Het
Cic G A 7: 25,271,989 (GRCm38) V382I possibly damaging Het
Cyp21a1 G A 17: 34,801,886 (GRCm38) S453F probably damaging Het
D16Ertd472e A T 16: 78,547,758 (GRCm38) I154N probably benign Het
Dbf4 A G 5: 8,397,764 (GRCm38) V482A possibly damaging Het
Dchs2 G A 3: 83,285,266 (GRCm38) V1673M probably benign Het
Dctd T A 8: 48,137,350 (GRCm38) C119S probably damaging Het
Dock1 A G 7: 135,115,336 (GRCm38) T1234A probably damaging Het
Eya4 A T 10: 23,123,907 (GRCm38) M386K Het
Fbxw19 T A 9: 109,486,033 (GRCm38) M154L probably benign Het
Frmpd1 T A 4: 45,279,182 (GRCm38) S636T probably benign Het
Glb1l A T 1: 75,201,039 (GRCm38) Y412N probably damaging Het
Gm11639 T A 11: 104,730,429 (GRCm38) probably null Het
Gnb5 T A 9: 75,311,414 (GRCm38) L7Q probably damaging Het
Gpr19 C T 6: 134,887,741 (GRCm38) V3M unknown Het
Hivep2 A G 10: 14,131,761 (GRCm38) T1368A probably damaging Het
Hmx3 A T 7: 131,544,373 (GRCm38) Q270L probably damaging Het
Il1rap A T 16: 26,714,925 (GRCm38) I524F possibly damaging Het
Mettl17 G A 14: 51,888,034 (GRCm38) G198D probably damaging Het
Mga T A 2: 119,935,518 (GRCm38) I1421N possibly damaging Het
Myb T A 10: 21,150,376 (GRCm38) Q231L probably benign Het
Myef2l T A 3: 10,089,347 (GRCm38) M392K probably benign Het
Myf5 G A 10: 107,485,666 (GRCm38) T89I probably damaging Het
Nup214 T A 2: 32,047,511 (GRCm38) L1999Q probably damaging Het
Or10aa3 T C 1: 174,050,763 (GRCm38) L130P Het
Or1ad6 T A 11: 50,969,786 (GRCm38) L256Q probably damaging Het
Or4a76 A G 2: 89,630,044 (GRCm38) Y285H probably damaging Het
Or51t4 A T 7: 102,949,236 (GRCm38) H257L probably damaging Het
Or5w19 G A 2: 87,868,035 (GRCm38) G15R probably damaging Het
Or7a36 A G 10: 78,984,386 (GRCm38) M199V probably benign Het
Otog A T 7: 46,267,297 (GRCm38) D886V possibly damaging Het
Pde7a A C 3: 19,233,794 (GRCm38) V237G possibly damaging Het
Pigs T C 11: 78,339,387 (GRCm38) Y327H probably damaging Het
Pkd2l2 T C 18: 34,430,330 (GRCm38) V478A probably damaging Het
Pnrc1 C A 4: 33,246,488 (GRCm38) G157V probably damaging Het
Poglut1 G T 16: 38,526,775 (GRCm38) S343R probably benign Het
Pyy C T 11: 102,107,285 (GRCm38) G23E probably damaging Het
Ripor3 T A 2: 167,989,318 (GRCm38) D521V probably benign Het
Rnpepl1 T C 1: 92,917,702 (GRCm38) S448P probably benign Het
Sash1 G A 10: 8,762,230 (GRCm38) probably benign Het
Sbf2 T C 7: 110,441,495 (GRCm38) Q375R possibly damaging Het
Synj1 C T 16: 90,944,852 (GRCm38) C1252Y probably benign Het
Tenm2 A T 11: 36,069,419 (GRCm38) L1027Q probably damaging Het
Tep1 A G 14: 50,837,180 (GRCm38) V1796A possibly damaging Het
Timp3 A T 10: 86,300,918 (GRCm38) E22V possibly damaging Het
Tlk1 A C 2: 70,786,875 (GRCm38) probably null Het
Tmco1 C A 1: 167,314,131 (GRCm38) T69K Het
Topaz1 T A 9: 122,797,663 (GRCm38) M1452K probably benign Het
Tsc22d2 T C 3: 58,460,032 (GRCm38) Y668H unknown Het
Uri1 A T 7: 37,969,606 (GRCm38) D153E probably benign Het
Vmn1r169 A T 7: 23,577,917 (GRCm38) T245S probably damaging Het
Vmn1r60 A G 7: 5,544,919 (GRCm38) Y61H Het
Zfp541 A T 7: 16,072,214 (GRCm38) E91D probably damaging Het
Zfp946 A G 17: 22,454,588 (GRCm38) N108D possibly damaging Het
Zpr1 T C 9: 46,275,449 (GRCm38) L194P probably damaging Het
Zzef1 T A 11: 72,864,827 (GRCm38) N1027K 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
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
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
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'- TTTGTCCTCACAATAGGCTGC -3'
(R):5'- GGTAAGTTGTTTAATTCAGCTGCTC -3'

Sequencing Primer
(F):5'- GTCCTCACAATAGGCTGCATTAAAAG -3'
(R):5'- GTTTAATTCAGCTGCTCACATTTTC -3'
Posted On 2022-05-16