Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Etv2'

29611

Institutional Source

Beutler Lab

Gene Symbol

Etv2

Ensembl Gene

ENSMUSG00000006311

Gene Name

ets variant 2

Synonyms

Etsrp71

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0144 (G1)

Quality Score

128

Status

Validated (trace)

Chromosome

Chromosomal Location

30333041-30335277 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30334308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 142 (A142S)

Ref Sequence

ENSEMBL: ENSMUSP00000103782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108147]

AlphaFold

P41163

Predicted Effect

probably benign
Transcript: ENSMUST00000108147
AA Change: A142S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103782
Gene: ENSMUSG00000006311
AA Change: A142S

Domain	Start	End	E-Value	Type
low complexity region	102	114	N/A	INTRINSIC
ETS	233	318	4.77e-51	SMART

Meta Mutation Damage Score

0.1805

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

MGI Phenotype

PHENOTYPE: Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition, mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,652,739 (GRCm39)		probably null	Het
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo17	C	G	7: 28,434,765 (GRCm39)	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Itpr2	T	A	6: 146,228,653 (GRCm39)	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Klhl8	A	T	5: 104,015,804 (GRCm39)	S361R	probably benign	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,608,948 (GRCm39)	R640G	probably damaging	Het
Nalcn	C	T	14: 123,647,251 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	probably damaging	Het

Other mutations in Etv2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Etv2	APN	7	30,333,092 (GRCm39)	missense	probably benign	0.13
R0416:Etv2	UTSW	7	30,334,058 (GRCm39)	missense	probably benign	0.01
R6216:Etv2	UTSW	7	30,334,036 (GRCm39)	critical splice donor site	probably null
R6812:Etv2	UTSW	7	30,333,426 (GRCm39)	nonsense	probably null
R6972:Etv2	UTSW	7	30,334,167 (GRCm39)	missense	probably benign	0.00
R6973:Etv2	UTSW	7	30,334,167 (GRCm39)	missense	probably benign	0.00
R7180:Etv2	UTSW	7	30,335,074 (GRCm39)	missense	probably damaging	1.00
R7236:Etv2	UTSW	7	30,334,455 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GTGGCTCTATCAGACTGCTTGTTCG -3'
(R):5'- CTCCCCTAAAATTCCCAAGGGTGC -3'

Sequencing Primer
(F):5'- TGCCCCTCGAAAGGGATG -3'
(R):5'- GGTCTGTCTTCCTCGCAGAG -3'

Posted On

2013-04-18