Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Vangl2'

638992

Institutional Source

Beutler Lab

Gene Symbol

Vangl2

Ensembl Gene

ENSMUSG00000026556

Gene Name

VANGL planar cell polarity 2

Synonyms

Lootl, Ltap, C530001F03Rik, ska17, strabismus, Lpp1, ska, loop-tail

MMRRC Submission

067853-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171828527-171856011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 171837513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 99 (V99F)

Ref Sequence

ENSEMBL: ENSMUSP00000106895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027837] [ENSMUST00000111263] [ENSMUST00000111264] [ENSMUST00000138714] [ENSMUST00000153662]

AlphaFold

Q91ZD4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027837
AA Change: V99F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027837
Gene: ENSMUSG00000026556
AA Change: V99F

Domain	Start	End	E-Value	Type
Pfam:Strabismus	22	521	3.1e-267	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111263
AA Change: V99F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106894
Gene: ENSMUSG00000026556
AA Change: V99F

Domain	Start	End	E-Value	Type
Pfam:Strabismus	22	521	3.1e-267	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111264
AA Change: V99F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106895
Gene: ENSMUSG00000026556
AA Change: V99F

Domain	Start	End	E-Value	Type
Pfam:Strabismus	19	272	5e-115	PFAM
Pfam:Strabismus	298	560	1.3e-124	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138714
AA Change: V99F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117736
Gene: ENSMUSG00000026556
AA Change: V99F

Domain	Start	End	E-Value	Type
Pfam:Strabismus	22	102	2e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153662
AA Change: V99F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116522
Gene: ENSMUSG00000026556
AA Change: V99F

Domain	Start	End	E-Value	Type
Pfam:Strabismus	22	130	2.4e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous animals do not survive past birth. Developmental defects are seen in the nervous, cardiovascular, skeletal, vestibular, and respiratory systems. Kinked or looped tails are noted in heterozygotes with partial penetrance, along with a head wobble and some nervous system deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Cd5	T	A	19: 10,697,609 (GRCm39)	R457W	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cops2	T	C	2: 125,701,028 (GRCm39)		probably benign	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or52e8b	C	T	7: 104,673,885 (GRCm39)	G97R	probably benign	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Prr5l	A	G	2: 101,571,630 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tgm6	G	A	2: 129,979,358 (GRCm39)	V163I	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	Het

Other mutations in Vangl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03117:Vangl2	APN	1	171,840,415 (GRCm39)	missense	probably damaging	1.00
crimp	UTSW	1	171,833,694 (GRCm39)	missense	probably damaging	1.00
Piggy	UTSW	1	171,837,230 (GRCm39)	missense	possibly damaging	0.95
R0594:Vangl2	UTSW	1	171,832,224 (GRCm39)	missense	probably damaging	1.00
R0718:Vangl2	UTSW	1	171,833,784 (GRCm39)	missense	probably damaging	1.00
R1162:Vangl2	UTSW	1	171,832,414 (GRCm39)	missense	probably damaging	1.00
R1173:Vangl2	UTSW	1	171,832,353 (GRCm39)	missense	probably damaging	1.00
R1174:Vangl2	UTSW	1	171,832,353 (GRCm39)	missense	probably damaging	1.00
R1175:Vangl2	UTSW	1	171,832,353 (GRCm39)	missense	probably damaging	1.00
R1857:Vangl2	UTSW	1	171,837,464 (GRCm39)	missense	probably damaging	0.99
R2290:Vangl2	UTSW	1	171,836,113 (GRCm39)	nonsense	probably null
R2421:Vangl2	UTSW	1	171,835,526 (GRCm39)	missense	probably damaging	1.00
R4024:Vangl2	UTSW	1	171,835,608 (GRCm39)	missense	probably benign	0.00
R4809:Vangl2	UTSW	1	171,837,230 (GRCm39)	missense	possibly damaging	0.95
R4980:Vangl2	UTSW	1	171,837,132 (GRCm39)	missense	probably damaging	1.00
R5761:Vangl2	UTSW	1	171,833,694 (GRCm39)	missense	probably damaging	1.00
R8053:Vangl2	UTSW	1	171,832,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCAGGATGAGCAGCTTG -3'
(R):5'- AGCTCAGTGACTTCTGATGACTG -3'

Sequencing Primer
(F):5'- TGAGCAGCTTGAAGGCCAC -3'
(R):5'- CAGTGACTTCTGATGACTGTATATG -3'

Posted On

2020-07-28