Incidental Mutation 'R1646:Wasf2'
ID 173869
Institutional Source Beutler Lab
Gene Symbol Wasf2
Ensembl Gene ENSMUSG00000028868
Gene Name WASP family, member 2
Synonyms D4Ertd13e, WAVE2
MMRRC Submission 039682-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1646 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 132857843-132927067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132903902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 37 (I37V)
Ref Sequence ENSEMBL: ENSMUSP00000117314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084241] [ENSMUST00000105912] [ENSMUST00000138831]
AlphaFold Q8BH43
Predicted Effect unknown
Transcript: ENSMUST00000084241
AA Change: I37V
SMART Domains Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: I37V

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 unknown
Transcript: ENSMUST00000105912
AA Change: I37V
SMART Domains Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: I37V

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 noncoding transcript
Transcript: ENSMUST00000123578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136132
Predicted Effect probably benign
Transcript: ENSMUST00000138831
AA Change: I37V

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117314
Gene: ENSMUSG00000028868
AA Change: I37V

DomainStartEndE-ValueType
PDB:3P8C|D 1 85 6e-36 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158673
Meta Mutation Damage Score 0.1109 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 96% (69/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T G 4: 63,302,129 (GRCm39) I581L probably benign Het
Cacnb4 A G 2: 52,364,912 (GRCm39) I117T possibly damaging Het
Capn1 A T 19: 6,047,760 (GRCm39) F434L probably benign Het
Cbs T C 17: 31,832,169 (GRCm39) T547A probably benign Het
Col6a5 A T 9: 105,739,948 (GRCm39) L2557* probably null Het
Dach1 A G 14: 98,406,550 (GRCm39) S66P unknown Het
Ddx31 T C 2: 28,782,532 (GRCm39) V625A probably benign Het
Dmxl1 T G 18: 50,095,328 (GRCm39) V2969G probably damaging Het
Eapp T A 12: 54,732,745 (GRCm39) K122* probably null Het
Elapor1 A T 3: 108,370,306 (GRCm39) S751T probably damaging Het
Epb41l5 G T 1: 119,477,752 (GRCm39) probably benign Het
Fat1 T C 8: 45,471,079 (GRCm39) S1628P probably damaging Het
Fgfr2 T A 7: 129,844,374 (GRCm39) E37V probably damaging Het
Fgfr4 A T 13: 55,313,777 (GRCm39) N529Y probably damaging Het
Fsip2 A T 2: 82,808,861 (GRCm39) T1727S probably benign Het
Gak A T 5: 108,750,720 (GRCm39) S397T probably damaging Het
Gm6040 T A 8: 21,407,113 (GRCm39) I36F possibly damaging Het
Grhl1 A G 12: 24,661,860 (GRCm39) D513G possibly damaging Het
Gstt1 T A 10: 75,619,940 (GRCm39) D219V possibly damaging Het
Hcfc2 T G 10: 82,536,861 (GRCm39) V91G probably damaging Het
Hells A T 19: 38,956,227 (GRCm39) I808L probably benign Het
Icmt T A 4: 152,384,172 (GRCm39) V110E possibly damaging Het
Ilrun A G 17: 28,012,934 (GRCm39) S88P probably damaging Het
Iqca1 C T 1: 90,067,760 (GRCm39) V164M probably damaging Het
Klri1 G A 6: 129,680,299 (GRCm39) P119S probably benign Het
Krt71 C A 15: 101,647,199 (GRCm39) probably null Het
Lpin1 A G 12: 16,623,659 (GRCm39) probably null Het
Macir A T 1: 97,573,531 (GRCm39) I178N probably damaging Het
Metap2 T C 10: 93,706,059 (GRCm39) H241R probably damaging Het
Myh15 A G 16: 49,015,931 (GRCm39) Y1869C probably damaging Het
Myo1h G A 5: 114,455,693 (GRCm39) G59E possibly damaging Het
Ncam2 T G 16: 81,262,594 (GRCm39) probably benign Het
Npat T C 9: 53,466,434 (GRCm39) V241A probably benign Het
Npbwr1 C A 1: 5,987,473 (GRCm39) V14L probably benign Het
Nup37 T A 10: 88,014,096 (GRCm39) V323E possibly damaging Het
Or11g27 A T 14: 50,771,040 (GRCm39) Q57L probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or5p59 C T 7: 107,702,798 (GRCm39) T94I probably benign Het
Or7a35 C A 10: 78,853,340 (GRCm39) Y61* probably null Het
Pdlim4 A T 11: 53,947,080 (GRCm39) L132Q possibly damaging Het
Ptcd3 T C 6: 71,875,379 (GRCm39) D201G probably benign Het
Ptk7 A T 17: 46,897,223 (GRCm39) F370I probably benign Het
Pus7l T C 15: 94,431,517 (GRCm39) N371D probably benign Het
Pzp G A 6: 128,480,518 (GRCm39) A589V probably benign Het
Rasef T A 4: 73,652,786 (GRCm39) R572W probably damaging Het
Reep5 T C 18: 34,482,712 (GRCm39) T166A probably benign Het
Rhov A G 2: 119,101,501 (GRCm39) V35A probably damaging Het
Ripk4 C T 16: 97,545,097 (GRCm39) G517R probably damaging Het
Rnasel A G 1: 153,630,800 (GRCm39) T439A probably damaging Het
Slamf9 A G 1: 172,304,907 (GRCm39) T174A probably benign Het
Slc12a9 A G 5: 137,321,411 (GRCm39) L414P probably damaging Het
Slf1 G A 13: 77,214,767 (GRCm39) R640* probably null Het
Slfn8 G T 11: 82,907,712 (GRCm39) P277Q probably damaging Het
Stpg2 T A 3: 139,125,463 (GRCm39) probably benign Het
Tm9sf3 A C 19: 41,211,618 (GRCm39) N408K possibly damaging Het
Trio A G 15: 27,758,433 (GRCm39) V2049A possibly damaging Het
Ttn A T 2: 76,645,077 (GRCm39) I11180N probably damaging Het
Ush2a T C 1: 188,148,018 (GRCm39) C982R probably damaging Het
Usp36 C T 11: 118,164,392 (GRCm39) V207M probably damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vasp G A 7: 18,994,903 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,578,513 (GRCm39) F662S probably damaging Het
Vmn2r54 A T 7: 12,366,434 (GRCm39) C167S probably damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zfp317 A G 9: 19,558,608 (GRCm39) Y274C probably damaging Het
Zhx3 T C 2: 160,623,195 (GRCm39) Y324C probably damaging Het
Zzef1 T C 11: 72,754,862 (GRCm39) probably null 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
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
R7208:Wasf2 UTSW 4 132,923,045 (GRCm39) missense probably damaging 1.00
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'- GCCTTGAGAAGATCATGAGCTGCC -3'
(R):5'- AAGACACTGCTCTGTGAACCTCCC -3'

Sequencing Primer
(F):5'- TGTTTCAGATCAGAGCAACAGC -3'
(R):5'- GCAGATTCCTTTTGAAGCTAGAG -3'
Posted On 2014-04-24