Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Dvl2'

729234

Institutional Source

Beutler Lab

Gene Symbol

Dvl2

Ensembl Gene

ENSMUSG00000020888

Gene Name

dishevelled segment polarity protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69891418-69900935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69899976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 590 (R590Q)

Ref Sequence

ENSEMBL: ENSMUSP00000019362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000190940]

AlphaFold

Q60838

PDB Structure

a complex between Dishevlled2 and clathrin adaptor AP-2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000018718

SMART Domains

Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	74	188	4.4e-22	PFAM
Pfam:Acyl-CoA_dh_M	192	245	5.1e-20	PFAM
Pfam:Acyl-CoA_dh_1	306	455	6.7e-41	PFAM
Pfam:Acyl-CoA_dh_2	321	445	2.8e-12	PFAM
Blast:HisKA	460	557	6e-10	BLAST
low complexity region	558	569	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019362
AA Change: R590Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: R590Q

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
Pfam:Dishevelled	103	263	1.5e-60	PFAM
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102574

SMART Domains

Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	96	210	2.5e-25	PFAM
Pfam:Acyl-CoA_dh_M	214	316	5.5e-25	PFAM
Pfam:Acyl-CoA_dh_1	328	477	2.5e-41	PFAM
Pfam:Acyl-CoA_dh_2	343	467	8.7e-14	PFAM
Blast:HisKA	482	579	7e-10	BLAST
low complexity region	580	591	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102575
AA Change: R590Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: R590Q

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190940
AA Change: R590Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: R590Q

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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 dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show incomplete penetrance of perinatal lethality with surviving mice being predominantly female. Defects include cardiovascular outflow and neural tube abnormalities, malformations of vertebrae and ribs, and irregular somite segmentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	Het

Other mutations in Dvl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Dvl2	APN	11	69,900,410 (GRCm39)	missense	possibly damaging	0.86
IGL01465:Dvl2	APN	11	69,897,180 (GRCm39)	missense	probably damaging	1.00
IGL01920:Dvl2	APN	11	69,898,873 (GRCm39)	missense	probably benign	0.02
IGL01985:Dvl2	APN	11	69,899,119 (GRCm39)	missense	probably damaging	1.00
IGL02071:Dvl2	APN	11	69,895,626 (GRCm39)	splice site	probably null
IGL02110:Dvl2	APN	11	69,898,842 (GRCm39)	splice site	probably benign
IGL03132:Dvl2	APN	11	69,896,514 (GRCm39)	missense	probably benign	0.01
R0076:Dvl2	UTSW	11	69,898,926 (GRCm39)	missense	probably damaging	0.99
R0076:Dvl2	UTSW	11	69,898,926 (GRCm39)	missense	probably damaging	0.99
R0331:Dvl2	UTSW	11	69,897,043 (GRCm39)	splice site	probably benign
R0335:Dvl2	UTSW	11	69,891,861 (GRCm39)	splice site	probably benign
R1187:Dvl2	UTSW	11	69,896,962 (GRCm39)	missense	probably benign	0.05
R1552:Dvl2	UTSW	11	69,897,198 (GRCm39)	missense	possibly damaging	0.92
R1726:Dvl2	UTSW	11	69,900,287 (GRCm39)	missense	probably benign
R3103:Dvl2	UTSW	11	69,899,695 (GRCm39)	missense	possibly damaging	0.82
R4688:Dvl2	UTSW	11	69,898,344 (GRCm39)	missense	possibly damaging	0.82
R4812:Dvl2	UTSW	11	69,902,119 (GRCm39)	utr 3 prime	probably benign
R5319:Dvl2	UTSW	11	69,898,957 (GRCm39)	missense	possibly damaging	0.91
R5521:Dvl2	UTSW	11	69,897,233 (GRCm39)	missense	probably damaging	0.98
R5647:Dvl2	UTSW	11	69,900,275 (GRCm39)	missense	possibly damaging	0.91
R5721:Dvl2	UTSW	11	69,896,819 (GRCm39)	missense	possibly damaging	0.95
R6053:Dvl2	UTSW	11	69,896,819 (GRCm39)	missense	possibly damaging	0.95
R6812:Dvl2	UTSW	11	69,891,821 (GRCm39)	missense	probably damaging	1.00
R6818:Dvl2	UTSW	11	69,900,099 (GRCm39)	missense	probably damaging	0.98
R7843:Dvl2	UTSW	11	69,899,612 (GRCm39)	missense	probably benign	0.04
R8079:Dvl2	UTSW	11	69,898,344 (GRCm39)	missense	possibly damaging	0.95
R8398:Dvl2	UTSW	11	69,899,128 (GRCm39)	missense	probably damaging	1.00
R8425:Dvl2	UTSW	11	69,898,673 (GRCm39)	missense	probably damaging	1.00
R8880:Dvl2	UTSW	11	69,898,761 (GRCm39)	missense	possibly damaging	0.89
R9336:Dvl2	UTSW	11	69,897,180 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGCTTTCTTCGTACACCTATGG -3'
(R):5'- TTATAGGGGAGAGCCATGCCAG -3'

Sequencing Primer
(F):5'- ACCTATGGTGGAGGCAGTGC -3'
(R):5'- TGTCGAGCCCCTGGATG -3'

Posted On

2022-10-06