Incidental Mutation 'R7208:Wasf2'
ID 560852
Institutional Source Beutler Lab
Gene Symbol Wasf2
Ensembl Gene ENSMUSG00000028868
Gene Name WASP family, member 2
Synonyms D4Ertd13e, WAVE2
MMRRC Submission 045285-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7208 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132857843-132927067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132923045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 452 (V452I)
Ref Sequence ENSEMBL: ENSMUSP00000081263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084241] [ENSMUST00000105912]
AlphaFold Q8BH43
Predicted Effect probably damaging
Transcript: ENSMUST00000084241
AA Change: V452I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: V452I

DomainStartEndE-ValueType
PDB:4N78|D 1 219 4e-90 PDB
low complexity region 243 263 N/A INTRINSIC
low complexity region 293 403 N/A INTRINSIC
low complexity region 411 419 N/A INTRINSIC
WH2 435 452 7.02e-5 SMART
low complexity region 481 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105912
AA Change: V452I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: V452I

DomainStartEndE-ValueType
PDB:4N78|D 1 219 4e-90 PDB
low complexity region 243 263 N/A INTRINSIC
low complexity region 293 403 N/A INTRINSIC
low complexity region 411 419 N/A INTRINSIC
WH2 435 452 7.02e-5 SMART
low complexity region 481 497 N/A INTRINSIC
Meta Mutation Damage Score 0.1735 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutants show impaired embryonic development and do not survive to term. In addition to reduced embryo size, observed defects include hemorrhaging, abnormal somite development, perturbed angiogenesis, and shrunken cerebral ventricles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,629 (GRCm39) K854E probably damaging Het
Abcd2 G T 15: 91,074,885 (GRCm39) Y309* probably null Het
Ache G A 5: 137,289,751 (GRCm39) G360D probably damaging Het
Acot12 T C 13: 91,929,361 (GRCm39) L396P probably benign Het
Acox2 T G 14: 8,241,303 (GRCm38) D603A probably benign Het
Adam3 C A 8: 25,201,417 (GRCm39) K245N probably damaging Het
Ankhd1 T C 18: 36,758,081 (GRCm39) I925T probably benign Het
Arhgap27 C T 11: 103,251,585 (GRCm39) V48M probably damaging Het
Atm A T 9: 53,423,308 (GRCm39) probably null Het
B4galt4 T A 16: 38,574,302 (GRCm39) F92Y probably damaging Het
Brwd1 C T 16: 95,837,159 (GRCm39) R891Q probably damaging Het
Calcr T C 6: 3,687,612 (GRCm39) Q462R probably benign Het
Ccdc112 T C 18: 46,420,698 (GRCm39) R351G probably damaging Het
Ccdc80 T G 16: 44,917,073 (GRCm39) S610A probably benign Het
Cdh20 C A 1: 104,881,796 (GRCm39) N420K possibly damaging Het
Cntn3 G A 6: 102,255,383 (GRCm39) R172* probably null Het
Ctnnd1 G T 2: 84,452,390 (GRCm39) Q78K possibly damaging Het
D16Ertd472e A T 16: 78,372,814 (GRCm39) L41H probably damaging Het
Dclk2 A T 3: 86,706,909 (GRCm39) probably null Het
Dmwd C T 7: 18,814,234 (GRCm39) H295Y probably benign Het
Dnai2 T C 11: 114,647,988 (GRCm39) V588A unknown Het
Dnai4 T G 4: 102,923,549 (GRCm39) I427L probably benign Het
Dtx4 C T 19: 12,459,437 (GRCm39) probably null Het
Dync2h1 C A 9: 7,141,059 (GRCm39) D1323Y probably damaging Het
Fcgbp T A 7: 27,803,446 (GRCm39) H1683Q probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Gm9195 A G 14: 72,689,192 (GRCm39) S1876P possibly damaging Het
Grhl2 A C 15: 37,335,980 (GRCm39) K431T probably damaging Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gtf2ird1 T C 5: 134,439,948 (GRCm39) N94S probably benign Het
Gvin2 A C 7: 105,551,386 (GRCm39) S555R possibly damaging Het
Hmgcs1 G T 13: 120,162,620 (GRCm39) G195W probably damaging Het
Hrc A T 7: 44,985,989 (GRCm39) Y380F possibly damaging Het
Kcnu1 C T 8: 26,409,665 (GRCm39) Q863* probably null Het
Lemd2 G A 17: 27,415,165 (GRCm39) P300L probably damaging Het
Lnpep A T 17: 17,773,172 (GRCm39) Y665* probably null Het
Lrfn1 A G 7: 28,166,564 (GRCm39) T653A probably benign Het
Ly6g6c A G 17: 35,286,387 (GRCm39) T8A unknown Het
Mcm5 T C 8: 75,848,344 (GRCm39) probably null Het
Med28 A T 5: 45,680,794 (GRCm39) D86V probably damaging Het
Mup11 A G 4: 60,615,725 (GRCm39) S171P possibly damaging Het
Nckap1 A G 2: 80,370,542 (GRCm39) F383L probably benign Het
Nid1 G C 13: 13,642,970 (GRCm39) G303R probably benign Het
Nkain3 A G 4: 20,282,892 (GRCm39) V147A probably benign Het
Or12k8 A G 2: 36,975,670 (GRCm39) V30A probably benign Het
Pde9a G A 17: 31,639,258 (GRCm39) V63I possibly damaging Het
Pdlim2 T A 14: 70,411,826 (GRCm39) I69F probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phf20l1 T C 15: 66,476,638 (GRCm39) I245T probably benign Het
Prmt8 C T 6: 127,666,792 (GRCm39) R394H possibly damaging Het
Prorp A G 12: 55,355,430 (GRCm39) probably null Het
Prpf4b T A 13: 35,067,994 (GRCm39) D274E unknown Het
Psmd6 A T 14: 14,112,225 (GRCm38) probably null Het
Rgs16 T C 1: 153,617,416 (GRCm39) L69P probably damaging Het
Robo3 A T 9: 37,336,020 (GRCm39) I482N probably damaging Het
Scara3 C T 14: 66,168,715 (GRCm39) V301I possibly damaging Het
Serpina1b T A 12: 103,694,553 (GRCm39) H397L probably benign Het
Skint11 T A 4: 114,088,944 (GRCm39) L246Q probably damaging Het
Skint5 T A 4: 113,396,536 (GRCm39) R1212S unknown Het
Slc11a2 T C 15: 100,300,213 (GRCm39) D348G probably benign Het
Slc15a2 T C 16: 36,576,643 (GRCm39) K495E probably benign Het
Son T G 16: 91,458,990 (GRCm39) D2072E unknown Het
Stau1 A G 2: 166,805,494 (GRCm39) V34A probably damaging Het
Stk3 G T 15: 35,073,262 (GRCm39) L153I possibly damaging Het
Swi5 A T 2: 32,177,922 (GRCm39) V13E probably benign Het
Syne2 A T 12: 76,078,172 (GRCm39) probably null Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tep1 T A 14: 51,062,013 (GRCm39) probably null Het
Tmc6 A G 11: 117,667,151 (GRCm39) V149A probably benign Het
Tmem214 T A 5: 31,028,065 (GRCm39) V95E possibly damaging Het
Tnnt2 T A 1: 135,778,114 (GRCm39) probably null Het
Txlna A G 4: 129,525,071 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,038,948 (GRCm39) I841T probably damaging Het
Wdr62 C T 7: 29,951,761 (GRCm39) D673N probably damaging Het
Wdr95 C T 5: 149,518,836 (GRCm39) T559I probably benign Het
Zbtb40 A T 4: 136,726,937 (GRCm39) probably null Het
Zfat T C 15: 68,051,856 (GRCm39) E646G probably benign Het
Other mutations in Wasf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Wasf2 APN 4 132,919,439 (GRCm39) missense unknown
IGL02028:Wasf2 APN 4 132,923,112 (GRCm39) missense probably damaging 1.00
IGL03196:Wasf2 APN 4 132,921,732 (GRCm39) missense unknown
IGL03225:Wasf2 APN 4 132,903,857 (GRCm39) missense probably benign
Syndrome UTSW 4 132,922,220 (GRCm39) critical splice donor site probably null
R1551:Wasf2 UTSW 4 132,917,483 (GRCm39) missense unknown
R1646:Wasf2 UTSW 4 132,903,902 (GRCm39) missense probably benign 0.25
R4776:Wasf2 UTSW 4 132,912,315 (GRCm39) missense probably benign
R4929:Wasf2 UTSW 4 132,923,170 (GRCm39) missense unknown
R5042:Wasf2 UTSW 4 132,903,875 (GRCm39) missense probably benign 0.37
R6803:Wasf2 UTSW 4 132,922,220 (GRCm39) critical splice donor site probably null
R6889:Wasf2 UTSW 4 132,922,041 (GRCm39) missense unknown
R7421:Wasf2 UTSW 4 132,912,412 (GRCm39) missense unknown
R8477:Wasf2 UTSW 4 132,912,412 (GRCm39) missense unknown
R8707:Wasf2 UTSW 4 132,917,540 (GRCm39) missense unknown
R9566:Wasf2 UTSW 4 132,921,766 (GRCm39) missense unknown
R9650:Wasf2 UTSW 4 132,917,457 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTGATTCCACAGGACCTG -3'
(R):5'- AGCACTCGGATAGATCTTTGGC -3'

Sequencing Primer
(F):5'- GATTCCACAGGACCTGTCTTTC -3'
(R):5'- CCCCCATGAGACTGTTAGTTTGTATG -3'
Posted On 2019-06-26