Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Vangl2'

249261

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

040383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171828527-171856011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171835526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 382 (Y382C)

Ref Sequence

ENSEMBL: ENSMUSP00000106895 (fasta)

Gene Model

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

AlphaFold

Q91ZD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027837
AA Change: Y342C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027837
Gene: ENSMUSG00000026556
AA Change: Y342C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111263
AA Change: Y342C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106894
Gene: ENSMUSG00000026556
AA Change: Y342C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111264
AA Change: Y382C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106895
Gene: ENSMUSG00000026556
AA Change: Y382C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138714

SMART Domains

Protein: ENSMUSP00000117736
Gene: ENSMUSG00000026556

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148363

Predicted Effect

probably benign
Transcript: ENSMUST00000153662

SMART Domains

Protein: ENSMUSP00000116522
Gene: ENSMUSG00000026556

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

Meta Mutation Damage Score

0.4069

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,168,643 (GRCm39)	T449A	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dnal1	C	T	12: 84,183,480 (GRCm39)	Q80*	probably null	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gart	A	G	16: 91,439,928 (GRCm39)		probably null	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Psmd2	T	A	16: 20,478,856 (GRCm39)		probably null	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	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
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
R8297:Vangl2	UTSW	1	171,837,513 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCATCAGGTACAGGGGTCTC -3'
(R):5'- TCTTGCAGTTTCTCCCAGAG -3'

Sequencing Primer
(F):5'- AGGGGTCTCCTGAGCTTTCTC -3'
(R):5'- AGTTTCTCCCAGAGGTGGC -3'

Posted On

2014-11-12