Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Dvl2'

500030

Institutional Source

Beutler Lab

Gene Symbol

Dvl2

Ensembl Gene

ENSMUSG00000020888

Gene Name

dishevelled segment polarity protein 2

Synonyms

MMRRC Submission

041939-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69891418-69900935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69898344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 367 (R367Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140073 (fasta)

Gene Model

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

AlphaFold

Q60838

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: R367Q

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: R367Q

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

noncoding transcript
Transcript: ENSMUST00000083600

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: R367Q

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: R367Q

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

noncoding transcript
Transcript: ENSMUST00000130820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190940
AA Change: R367Q

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: R367Q

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

noncoding transcript
Transcript: ENSMUST00000135422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146129

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,680 (GRCm39)	N535S	probably damaging	Het
Abcc12	T	C	8: 87,275,323 (GRCm39)	S452G	possibly damaging	Het
Acacb	C	A	5: 114,342,824 (GRCm39)	Q897K	probably benign	Het
Acot3	C	A	12: 84,100,691 (GRCm39)	R145S	probably damaging	Het
Ankrd54	A	T	15: 78,938,782 (GRCm39)	Y247N	probably damaging	Het
Arl11	G	A	14: 61,548,546 (GRCm39)	V119I	probably benign	Het
Atosb	A	G	4: 43,034,663 (GRCm39)	F352S	probably damaging	Het
Atxn7	T	A	14: 14,089,288 (GRCm38)	M268K	probably benign	Het
Bms1	G	A	6: 118,369,667 (GRCm39)	R934C	probably damaging	Het
Brd10	A	G	19: 29,694,501 (GRCm39)	I1664T	probably benign	Het
Chrnb3	T	C	8: 27,884,147 (GRCm39)	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cnr1	A	T	4: 33,944,571 (GRCm39)	I320F	probably benign	Het
Cntn4	C	T	6: 106,414,910 (GRCm39)	P147L	probably damaging	Het
Col24a1	G	A	3: 145,020,144 (GRCm39)	V172I	probably benign	Het
Col9a3	A	G	2: 180,249,424 (GRCm39)	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,380,241 (GRCm39)	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,173,592 (GRCm39)	V192A	possibly damaging	Het
Deptor	A	G	15: 55,072,177 (GRCm39)	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,541,247 (GRCm39)	L38Q	probably damaging	Het
Dync1h1	T	G	12: 110,621,962 (GRCm39)	I3435S	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Eif2b3	A	G	4: 116,916,046 (GRCm39)	N218D	probably benign	Het
Epha2	A	G	4: 141,046,292 (GRCm39)	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367 (GRCm39)	L177F	probably damaging	Het
Fam98c	C	T	7: 28,854,666 (GRCm39)	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,431,979 (GRCm39)	T19A	probably benign	Het
Fbxo47	A	G	11: 97,747,049 (GRCm39)	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,542,122 (GRCm39)	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,800,245 (GRCm39)	D32G	probably damaging	Het
Gpr135	T	C	12: 72,117,720 (GRCm39)	T16A	probably benign	Het
Gpr160	A	T	3: 30,950,835 (GRCm39)	R302S	probably benign	Het
Hrh2	C	A	13: 54,368,820 (GRCm39)	N265K	probably benign	Het
Htatip2	C	A	7: 49,423,171 (GRCm39)	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,555,482 (GRCm39)	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,402,878 (GRCm39)	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,241,903 (GRCm39)	S161P	probably damaging	Het
Itprid1	G	A	6: 55,944,132 (GRCm39)		probably null	Het
Kcnc1	A	G	7: 46,047,259 (GRCm39)	D53G	probably benign	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Lce1h	G	T	3: 92,670,874 (GRCm39)	R93S	unknown	Het
Lce1k	T	C	3: 92,713,951 (GRCm39)	S78G	unknown	Het
Lhcgr	T	A	17: 89,072,580 (GRCm39)	I156F	probably damaging	Het
Lpl	T	C	8: 69,352,077 (GRCm39)	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,456,706 (GRCm39)	R853S	probably damaging	Het
Lrrc7	A	G	3: 157,854,242 (GRCm39)	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,784,472 (GRCm39)	Q67*	probably null	Het
Megf6	A	T	4: 154,338,271 (GRCm39)	D447V	probably damaging	Het
Mep1a	T	C	17: 43,793,139 (GRCm39)	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,365,781 (GRCm39)	D95G	probably benign	Het
Npepl1	A	T	2: 173,956,235 (GRCm39)	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,594,020 (GRCm39)	S262P	probably benign	Het
Nrp1	A	G	8: 129,229,047 (GRCm39)	N842D	probably benign	Het
Olfml3	A	G	3: 103,639,497 (GRCm39)		probably benign	Het
Or1x6	A	G	11: 50,939,815 (GRCm39)	R294G	probably damaging	Het
Or4b1d	T	A	2: 89,969,343 (GRCm39)	N47Y	possibly damaging	Het
Or6b6	T	A	7: 106,571,068 (GRCm39)	Y161F	probably benign	Het
Or6c204	G	A	10: 129,022,514 (GRCm39)	P259S	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,162 (GRCm39)	Y27H	possibly damaging	Het
Or8b3b	A	G	9: 38,584,659 (GRCm39)	L27P	probably damaging	Het
Or9i1b	A	T	19: 13,896,605 (GRCm39)	T74S	probably benign	Het
Pde2a	A	G	7: 101,152,041 (GRCm39)	N316S	probably benign	Het
Pde4dip	T	A	3: 97,750,993 (GRCm39)	R74*	probably null	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Piezo1	A	T	8: 123,215,278 (GRCm39)	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 119,998,414 (GRCm39)	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,326,753 (GRCm39)	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,308,592 (GRCm39)	T131K	probably benign	Het
Pros1	T	C	16: 62,709,370 (GRCm39)		probably null	Het
Prrc2c	G	T	1: 162,525,256 (GRCm39)	P450Q	unknown	Het
Ptbp1	G	T	10: 79,692,342 (GRCm39)	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,078,074 (GRCm39)	L997F	probably damaging	Het
Rims1	G	T	1: 22,518,528 (GRCm39)	S525*	probably null	Het
Sanbr	A	G	11: 23,543,449 (GRCm39)	S530P	probably benign	Het
Sh2b3	T	A	5: 121,956,697 (GRCm39)	D318V	probably benign	Het
Slc16a13	A	T	11: 70,111,101 (GRCm39)	I88N	probably damaging	Het
Slit2	T	A	5: 48,414,345 (GRCm39)		probably null	Het
Snx10	A	G	6: 51,556,918 (GRCm39)	N67S	probably damaging	Het
Stil	A	G	4: 114,898,505 (GRCm39)	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,042,359 (GRCm39)		probably null	Het
Sympk	A	G	7: 18,788,335 (GRCm39)	S1254G	probably benign	Het
Syt15	G	T	14: 33,950,011 (GRCm39)	G377V	probably damaging	Het
Taar4	A	T	10: 23,836,731 (GRCm39)	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,570,300 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,924,502 (GRCm39)	N558K	probably benign	Het
Tln2	T	G	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Trim50	C	T	5: 135,395,994 (GRCm39)	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,333,312 (GRCm39)	Y192*	probably null	Het
Ube3b	T	C	5: 114,531,139 (GRCm39)	V211A	probably benign	Het
Ush2a	A	G	1: 188,132,138 (GRCm39)	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,286,289 (GRCm39)	M183V	probably damaging	Het
Vps13d	G	T	4: 144,904,782 (GRCm39)	Q115K	probably benign	Het
Zfp358	A	G	8: 3,545,493 (GRCm39)	D25G	probably damaging	Het
Zfp521	T	G	18: 13,977,647 (GRCm39)	K922T	probably damaging	Het
Zfp521	T	A	18: 13,977,648 (GRCm39)	K922*	probably null	Het
Zfp68	T	A	5: 138,614,743 (GRCm39)	K4*	probably null	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
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
R9695:Dvl2	UTSW	11	69,899,976 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CAGCAACGTGAGCTCTTTTC -3'
(R):5'- AGGCCTGTGTGTTCCAGAATTAG -3'

Sequencing Primer
(F):5'- AGCAACGTGAGCTCTTTTCTTTCC -3'
(R):5'- AGAATTAGGAGTTCTGTCTACCCC -3'

Posted On

2017-11-30