Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Vax2'

311183

Institutional Source

Beutler Lab

Gene Symbol

Vax2

Ensembl Gene

ENSMUSG00000034777

Gene Name

ventral anterior homeobox 2

Synonyms

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83688246-83715295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83714529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000035976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037807]

AlphaFold

Q9WTP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037807
AA Change: V148A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: V148A

Domain	Start	End	E-Value	Type
low complexity region	7	32	N/A	INTRINSIC
HOX	102	164	3.54e-27	SMART
low complexity region	169	180	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	233	247	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ak3	T	A	19: 29,025,118 (GRCm39)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dnajb6	T	C	5: 29,956,006 (GRCm39)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Klk1b4	G	A	7: 43,861,017 (GRCm39)	G220D	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mical2	A	G	7: 112,006,885 (GRCm39)		probably null	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tasor	T	C	14: 27,199,087 (GRCm39)	L1335S	possibly damaging	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	probably benign	Het

Other mutations in Vax2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Vax2	APN	6	83,688,519 (GRCm39)	missense	possibly damaging	0.70
IGL02161:Vax2	APN	6	83,714,885 (GRCm39)	missense	probably damaging	1.00
IGL02584:Vax2	APN	6	83,688,495 (GRCm39)	missense	probably benign
R0316:Vax2	UTSW	6	83,688,426 (GRCm39)	missense	possibly damaging	0.79
R0456:Vax2	UTSW	6	83,688,388 (GRCm39)	missense	probably benign	0.00
R1006:Vax2	UTSW	6	83,714,759 (GRCm39)	missense	probably damaging	1.00
R2045:Vax2	UTSW	6	83,688,252 (GRCm39)	start gained	probably benign
R2217:Vax2	UTSW	6	83,714,871 (GRCm39)	missense	probably damaging	0.98
R2324:Vax2	UTSW	6	83,688,307 (GRCm39)	missense	possibly damaging	0.53
R4755:Vax2	UTSW	6	83,688,379 (GRCm39)	missense	probably damaging	0.99
R7203:Vax2	UTSW	6	83,714,882 (GRCm39)	missense	probably damaging	0.99
R7242:Vax2	UTSW	6	83,688,298 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTGGTGTGAGAGGACACTAAC -3'
(R):5'- TTTCTGGGGTCAACCAAGG -3'

Sequencing Primer
(F):5'- TGTGAGAGGACACTAACAATCTGCTC -3'
(R):5'- AAGGAGGTGCCCCTGTG -3'

Posted On

2015-04-29