Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Dvl2'

170024

Institutional Source

Beutler Lab

Gene Symbol

Dvl2

Ensembl Gene

ENSMUSG00000020888

Gene Name

dishevelled segment polarity protein 2

Synonyms

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69891418-69900935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69897198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 300 (M300K)

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: M300K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: M300K

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: M300K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: M300K

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: ENSMUST00000135422

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190940
AA Change: M300K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: M300K

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: ENSMUST00000146129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149477

Meta Mutation Damage Score

0.8216

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,217,617 (GRCm39)	I365F	probably damaging	Het
Abhd15	T	C	11: 77,406,233 (GRCm39)	L70P	probably damaging	Het
Adam18	A	C	8: 25,136,377 (GRCm39)	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,645,321 (GRCm39)		probably null	Het
Arcn1	C	T	9: 44,670,291 (GRCm39)	A112T	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Calhm1	C	T	19: 47,129,640 (GRCm39)	R294H	probably benign	Het
Ccdc121rt1	A	G	1: 181,338,556 (GRCm39)	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,615 (GRCm39)	E81G	probably benign	Het
Cep170	T	C	1: 176,610,060 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,786,484 (GRCm39)	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 54,923,192 (GRCm39)	E205D	probably benign	Het
Chst5	T	C	8: 112,616,912 (GRCm39)	D236G	probably damaging	Het
Coro1a	T	C	7: 126,299,124 (GRCm39)	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,373,346 (GRCm39)	I474V	probably benign	Het
Cyth3	G	A	5: 143,683,505 (GRCm39)	V87I	probably benign	Het
Dclk3	C	A	9: 111,317,647 (GRCm39)	T761K	probably damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Exog	T	C	9: 119,274,176 (GRCm39)	S54P	unknown	Het
Fasn	A	G	11: 120,709,384 (GRCm39)	S519P	probably damaging	Het
Gas8	G	A	8: 124,247,385 (GRCm39)	A16T	probably benign	Het
Got2	A	G	8: 96,596,122 (GRCm39)	S333P	probably benign	Het
Hadhb	T	A	5: 30,381,931 (GRCm39)	L287Q	probably null	Het
Ift57	A	G	16: 49,579,716 (GRCm39)	T211A	probably benign	Het
Il1rap	A	G	16: 26,541,184 (GRCm39)	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,312,316 (GRCm39)	D11E	probably damaging	Het
Impact	T	C	18: 13,117,337 (GRCm39)	S137P	probably benign	Het
Jarid2	T	C	13: 45,064,675 (GRCm39)	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,223,890 (GRCm39)	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,375,325 (GRCm39)	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,618,767 (GRCm39)	Y48C	probably damaging	Het
Klra5	G	T	6: 129,886,848 (GRCm39)	T60K	probably damaging	Het
Kng2	A	T	16: 22,806,270 (GRCm39)	L643H	probably damaging	Het
Lamb3	A	G	1: 193,013,067 (GRCm39)		probably null	Het
Lingo2	A	G	4: 35,708,315 (GRCm39)	V555A	probably damaging	Het
Mbd5	T	C	2: 49,162,946 (GRCm39)	S251P	probably damaging	Het
Mc4r	T	C	18: 66,992,766 (GRCm39)	S116G	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Myo15b	A	C	11: 115,757,461 (GRCm39)	S1104R	probably benign	Het
Nek1	T	A	8: 61,459,771 (GRCm39)	D26E	probably damaging	Het
Neu1	C	T	17: 35,151,089 (GRCm39)		probably benign	Het
Npffr2	T	C	5: 89,730,975 (GRCm39)	S302P	possibly damaging	Het
Or8b48	T	C	9: 38,492,675 (GRCm39)	M34T	probably benign	Het
Palmd	T	A	3: 116,741,689 (GRCm39)		probably benign	Het
Pcdh8	A	T	14: 80,008,047 (GRCm39)	V172E	probably benign	Het
Pnpla6	C	A	8: 3,572,403 (GRCm39)	Q291K	probably damaging	Het
Pou2af2	T	A	9: 51,202,870 (GRCm39)	S95C	probably damaging	Het
Prkch	T	C	12: 73,749,320 (GRCm39)	F357L	probably benign	Het
Ptprj	A	T	2: 90,301,497 (GRCm39)	Y212N	probably damaging	Het
Reln	G	T	5: 22,165,376 (GRCm39)	H2061N	probably benign	Het
Rint1	T	A	5: 24,005,656 (GRCm39)	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468 (GRCm39)		probably null	Het
Slc30a4	T	A	2: 122,527,936 (GRCm39)	I374L	probably benign	Het
Slfn10-ps	T	C	11: 82,920,676 (GRCm39)		noncoding transcript	Het
Smcp	A	T	3: 92,491,710 (GRCm39)	C46S	unknown	Het
Smu1	A	C	4: 40,748,570 (GRCm39)	V240G	probably damaging	Het
Srsf5	A	G	12: 80,996,519 (GRCm39)		probably benign	Het
Stn1	T	C	19: 47,524,812 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,262,335 (GRCm39)	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,607,130 (GRCm39)	Y222H	probably benign	Het
Tescl	G	T	7: 24,032,758 (GRCm39)	P189Q	probably benign	Het
Tlr1	A	G	5: 65,084,203 (GRCm39)	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,609,880 (GRCm39)	D566E	possibly damaging	Het
Unc13b	A	T	4: 43,237,144 (GRCm39)	T3405S	probably damaging	Het
Upf1	G	A	8: 70,785,709 (GRCm39)	Q1046*	probably null	Het
Wwox	T	A	8: 115,172,090 (GRCm39)	Y61*	probably null	Het
Zfhx4	C	T	3: 5,468,170 (GRCm39)	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,888,488 (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
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
R9695:Dvl2	UTSW	11	69,899,976 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AGTGTCACCGATTCCACAATGTCTC -3'
(R):5'- TCGTACAGCATCGTCGTTGCTC -3'

Sequencing Primer
(F):5'- TCACGCTCAACATGGGTATG -3'
(R):5'- GTCGTTGCTCATGTTCTCAAAG -3'

Posted On

2014-04-13