Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Vax2'

563285

Institutional Source

Beutler Lab

Gene Symbol

Vax2

Ensembl Gene

ENSMUSG00000034777

Gene Name

ventral anterior homeobox 2

Synonyms

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R7242 (G1)

Quality Score

150.008

Status

Validated

Chromosome

Chromosomal Location

83688246-83715295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83688298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 7 (E7G)

Ref Sequence

ENSEMBL: ENSMUSP00000035976 (fasta)

Gene Model

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

AlphaFold

Q9WTP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037807
AA Change: E7G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: E7G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Coch	G	T	12: 51,640,344 (GRCm39)		probably benign	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,298,783 (GRCm39)	E264K	probably benign	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or12e8	G	A	2: 87,188,426 (GRCm39)	V213I	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Phtf1	A	G	3: 103,906,012 (GRCm39)	S565G	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Tulp1	T	C	17: 28,582,379 (GRCm39)		probably null	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	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
R3979:Vax2	UTSW	6	83,714,529 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- TTGCCAGGCTCTAAACACC -3'
(R):5'- TTACCTCGTACCAGGATGCG -3'

Sequencing Primer
(F):5'- TGGATCCACCCAGAGTCCTG -3'
(R):5'- AGTGGTCTGTCTCACCGAG -3'

Posted On

2019-06-26