Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Dvl2'

629225

Institutional Source

Beutler Lab

Gene Symbol

Dvl2

Ensembl Gene

ENSMUSG00000020888

Gene Name

dishevelled segment polarity protein 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R8079 (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 C at 69898344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 367 (R367P)

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: R367P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: R367P

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: R367P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: R367P

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: R367P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: R367P

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: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		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
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'- AAACTAGGCCTGTGTGTTCCAG -3'

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

Posted On

2020-06-30