Mutagenetix > Incidental Mutation

Incidental Mutation 'R5042:Wasf2'

393244

Institutional Source

Beutler Lab

Gene Symbol

Wasf2

Ensembl Gene

ENSMUSG00000028868

Gene Name

WASP family, member 2

Synonyms

D4Ertd13e, WAVE2

MMRRC Submission

042632-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132857843-132927067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132903875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 28 (R28W)

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: R28W

SMART Domains

Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: R28W

Domain	Start	End	E-Value	Type
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: R28W

SMART Domains

Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: R28W

Domain	Start	End	E-Value	Type
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: R28W

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117314
Gene: ENSMUSG00000028868
AA Change: R28W

Domain	Start	End	E-Value	Type
PDB:3P8C\|D	1	85	6e-36	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158673

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

100% (57/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,273,927 (GRCm39)		noncoding transcript	Het
4933413J09Rik	C	A	14: 26,097,436 (GRCm39)		noncoding transcript	Het
Aldh1a2	A	G	9: 71,192,286 (GRCm39)	I413V	possibly damaging	Het
Alpk2	C	T	18: 65,483,579 (GRCm39)	W143*	probably null	Het
Anpep	G	T	7: 79,489,217 (GRCm39)	N318K	probably benign	Het
Art5	A	T	7: 101,748,672 (GRCm39)	L10H	probably damaging	Het
Atg2b	T	G	12: 105,587,521 (GRCm39)	H1981P	probably benign	Het
B3gnt3	T	C	8: 72,145,532 (GRCm39)	T279A	probably damaging	Het
Bmp10	G	T	6: 87,411,039 (GRCm39)	E277D	probably damaging	Het
Ccdc180	A	G	4: 45,916,255 (GRCm39)	T191A	probably damaging	Het
Dars2	T	A	1: 160,872,664 (GRCm39)		probably benign	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fndc7	A	T	3: 108,770,102 (GRCm39)	V608D	probably damaging	Het
Gad1-ps	A	T	10: 99,281,516 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,317,224 (GRCm39)	K527E	probably benign	Het
Gm10719	T	A	9: 3,018,970 (GRCm39)	F72I	probably damaging	Het
Hes3	T	A	4: 152,371,500 (GRCm39)	S150C	possibly damaging	Het
Hp1bp3	T	A	4: 137,949,419 (GRCm39)	M1K	probably null	Het
Il17rd	T	A	14: 26,817,998 (GRCm39)	V229E	probably damaging	Het
Iqch	A	G	9: 63,403,516 (GRCm39)	M634T	possibly damaging	Het
Magel2	C	T	7: 62,029,354 (GRCm39)	R753W	unknown	Het
Med26	A	G	8: 73,250,919 (GRCm39)	V60A	probably damaging	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Nat1	T	G	8: 67,944,228 (GRCm39)	D201E	probably benign	Het
Nav3	G	T	10: 109,605,129 (GRCm39)	S981R	probably benign	Het
Nbn	C	A	4: 15,981,446 (GRCm39)	L513M	probably benign	Het
Nfatc3	T	C	8: 106,834,757 (GRCm39)	V701A	probably benign	Het
Nlrp9a	A	G	7: 26,270,703 (GRCm39)	D911G	probably damaging	Het
Npr2	A	T	4: 43,647,002 (GRCm39)	I712F	probably damaging	Het
Oplah	G	A	15: 76,189,909 (GRCm39)	R235*	probably null	Het
Or10a48	A	G	7: 108,424,678 (GRCm39)	I176T	possibly damaging	Het
Pcdha11	T	A	18: 37,144,649 (GRCm39)	Y247N	probably damaging	Het
Pcdhga9	A	G	18: 37,870,630 (GRCm39)	Y153C	probably damaging	Het
Pkd1	A	T	17: 24,788,861 (GRCm39)	D873V	probably benign	Het
Pnpla1	A	G	17: 29,100,021 (GRCm39)	N296S	probably benign	Het
Ppfia3	A	G	7: 44,991,765 (GRCm39)	V839A	probably damaging	Het
Ppm1j	A	T	3: 104,690,036 (GRCm39)	Q148L	probably null	Het
Prune2	T	A	19: 17,097,161 (GRCm39)	N888K	possibly damaging	Het
Sh3bgr	A	G	16: 96,007,066 (GRCm39)	D12G	probably benign	Het
Snph	T	A	2: 151,442,977 (GRCm39)	I35F	possibly damaging	Het
Spag17	A	T	3: 99,979,465 (GRCm39)	D1442V	probably damaging	Het
Spidr	T	C	16: 15,936,767 (GRCm39)	T113A	probably benign	Het
St13	A	T	15: 81,249,693 (GRCm39)	N349K	probably damaging	Het
Ttll6	C	T	11: 96,045,430 (GRCm39)	S549F	possibly damaging	Het
Uap1l1	A	T	2: 25,252,097 (GRCm39)	S473T	possibly damaging	Het
Vmn1r54	T	C	6: 90,246,422 (GRCm39)	V112A	possibly damaging	Het
Vmn2r57	G	A	7: 41,078,086 (GRCm39)	S124L	probably benign	Het
Wwp2	T	A	8: 108,275,117 (GRCm39)	N417K	possibly damaging	Het
Zc3h13	A	T	14: 75,576,836 (GRCm39)	D1648V	probably damaging	Het

Other mutations in Wasf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTGTTTCAGATCAGAGCAACAG -3'
(R):5'- AAAAGGAGCCCTTCTCGGAG -3'

Sequencing Primer
(F):5'- AGACTCGCATAGCCCTGTGTG -3'
(R):5'- CTTCTCGGAGCAGGGAACAG -3'

Posted On

2016-06-15