Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Dvl2'

484255

Institutional Source

Beutler Lab

Gene Symbol

Dvl2

Ensembl Gene

ENSMUSG00000020888

Gene Name

dishevelled segment polarity protein 2

Synonyms

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69891418-69900935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69896819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 238 (R238G)

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: R238G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: R238G

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: R238G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: R238G

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: R238G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: R238G

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: ENSMUST00000149477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152732

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	probably damaging	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
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'- ATGAGTAGGTATGGCTGCACAC -3'
(R):5'- TGACCGTGATGATGTTGAGAGAC -3'

Sequencing Primer
(F):5'- AGGTATGGCTGCACACTTCCC -3'
(R):5'- CATTGTGGAATCGGTGACAC -3'

Posted On

2017-07-14