Incidental Mutation 'R5015:Pwp2'
ID 385514
Institutional Source Beutler Lab
Gene Symbol Pwp2
Ensembl Gene ENSMUSG00000032834
Gene Name PWP2 periodic tryptophan protein homolog (yeast)
Synonyms Pwp2, Pwp2h, 6530411D08Rik
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 78006743-78020983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78018527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 86 (C86R)
Ref Sequence ENSEMBL: ENSMUSP00000045812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384] [ENSMUST00000042556]
AlphaFold Q8BU03
Predicted Effect probably benign
Transcript: ENSMUST00000000384
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374

DomainStartEndE-ValueType
Pfam:TRAPPC10 1016 1245 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042556
AA Change: C86R

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: C86R

DomainStartEndE-ValueType
WD40 43 83 1.47e2 SMART
WD40 86 123 1.78e1 SMART
WD40 133 172 5.35e-1 SMART
WD40 177 216 8.29e-1 SMART
low complexity region 239 254 N/A INTRINSIC
WD40 273 316 1.9e2 SMART
WD40 319 359 4.44e0 SMART
WD40 362 401 7.44e-8 SMART
WD40 404 443 3.87e-6 SMART
WD40 446 487 5.7e1 SMART
WD40 490 529 1.28e-11 SMART
WD40 533 571 9.94e-1 SMART
WD40 594 633 4.95e0 SMART
WD40 692 729 2.21e1 SMART
Pfam:Utp12 771 875 9.4e-25 PFAM
low complexity region 890 902 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging Het
Other mutations in Pwp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01892:Pwp2 APN 10 78,014,841 (GRCm39) missense probably damaging 1.00
IGL02163:Pwp2 APN 10 78,014,119 (GRCm39) missense possibly damaging 0.82
IGL02280:Pwp2 APN 10 78,019,934 (GRCm39) missense probably damaging 0.99
IGL02558:Pwp2 APN 10 78,014,899 (GRCm39) missense probably damaging 1.00
IGL02560:Pwp2 APN 10 78,014,899 (GRCm39) missense probably damaging 1.00
IGL02583:Pwp2 APN 10 78,016,917 (GRCm39) missense probably benign
IGL02612:Pwp2 APN 10 78,018,828 (GRCm39) missense probably damaging 0.97
PIT4283001:Pwp2 UTSW 10 78,020,921 (GRCm39) start codon destroyed probably null 1.00
PIT4449001:Pwp2 UTSW 10 78,014,304 (GRCm39) missense probably benign 0.38
R0573:Pwp2 UTSW 10 78,018,520 (GRCm39) missense probably benign 0.37
R1835:Pwp2 UTSW 10 78,014,925 (GRCm39) missense probably damaging 1.00
R2097:Pwp2 UTSW 10 78,013,576 (GRCm39) splice site probably benign
R2251:Pwp2 UTSW 10 78,016,922 (GRCm39) missense probably benign 0.04
R2967:Pwp2 UTSW 10 78,018,532 (GRCm39) missense possibly damaging 0.94
R4909:Pwp2 UTSW 10 78,018,328 (GRCm39) missense possibly damaging 0.51
R4950:Pwp2 UTSW 10 78,018,840 (GRCm39) missense probably benign 0.00
R4970:Pwp2 UTSW 10 78,009,527 (GRCm39) missense possibly damaging 0.95
R5355:Pwp2 UTSW 10 78,011,378 (GRCm39) missense possibly damaging 0.94
R5390:Pwp2 UTSW 10 78,013,605 (GRCm39) missense possibly damaging 0.63
R5416:Pwp2 UTSW 10 78,018,835 (GRCm39) missense probably damaging 1.00
R5841:Pwp2 UTSW 10 78,007,952 (GRCm39) missense probably benign 0.00
R5928:Pwp2 UTSW 10 78,018,290 (GRCm39) missense probably damaging 0.98
R6495:Pwp2 UTSW 10 78,012,961 (GRCm39) missense probably damaging 1.00
R6771:Pwp2 UTSW 10 78,018,222 (GRCm39) splice site probably null
R6848:Pwp2 UTSW 10 78,020,127 (GRCm39) splice site probably null
R6897:Pwp2 UTSW 10 78,007,917 (GRCm39) missense probably damaging 1.00
R7060:Pwp2 UTSW 10 78,009,084 (GRCm39) splice site probably null
R7269:Pwp2 UTSW 10 78,012,170 (GRCm39) missense probably benign 0.30
R7367:Pwp2 UTSW 10 78,018,314 (GRCm39) missense probably damaging 1.00
R7368:Pwp2 UTSW 10 78,018,314 (GRCm39) missense probably damaging 1.00
R7394:Pwp2 UTSW 10 78,018,314 (GRCm39) missense probably damaging 1.00
R7728:Pwp2 UTSW 10 78,014,395 (GRCm39) missense probably benign 0.00
R7838:Pwp2 UTSW 10 78,018,778 (GRCm39) critical splice donor site probably null
R7898:Pwp2 UTSW 10 78,009,240 (GRCm39) missense probably damaging 1.00
R8072:Pwp2 UTSW 10 78,007,930 (GRCm39) missense possibly damaging 0.82
R8447:Pwp2 UTSW 10 78,007,873 (GRCm39) missense probably benign 0.10
R8750:Pwp2 UTSW 10 78,013,659 (GRCm39) missense probably damaging 1.00
R9302:Pwp2 UTSW 10 78,009,540 (GRCm39) missense probably benign 0.04
R9367:Pwp2 UTSW 10 78,014,827 (GRCm39) nonsense probably null
Z1177:Pwp2 UTSW 10 78,007,808 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGCATTGAACTCTCGCTTC -3'
(R):5'- CTAGGGTCAAGTTCAGCTTCATAG -3'

Sequencing Primer
(F):5'- AATGTTGCCCTTTGTGACAACG -3'
(R):5'- GCTTCATAGCACAGGTTCCAG -3'
Posted On 2016-05-10