Mutagenetix > Incidental Mutation

Incidental Mutation 'R6167:Evx2'

490181

Institutional Source

Beutler Lab

Gene Symbol

Evx2

Ensembl Gene

ENSMUSG00000001815

Gene Name

even-skipped homeobox 2

Synonyms

Evx-2

MMRRC Submission

044313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R6167 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

74483335-74489901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74489606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 53 (L53R)

Ref Sequence

ENSEMBL: ENSMUSP00000134131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001867] [ENSMUST00000173623]

AlphaFold

P49749

Predicted Effect

probably damaging
Transcript: ENSMUST00000001867
AA Change: L52R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
AA Change: L52R

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
low complexity region	106	111	N/A	INTRINSIC
low complexity region	146	187	N/A	INTRINSIC
HOX	190	252	5.66e-26	SMART
low complexity region	296	312	N/A	INTRINSIC
low complexity region	348	387	N/A	INTRINSIC
low complexity region	396	433	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173623
AA Change: L53R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
AA Change: L53R

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC
low complexity region	107	112	N/A	INTRINSIC
low complexity region	147	188	N/A	INTRINSIC
HOX	191	253	5.66e-26	SMART
low complexity region	297	313	N/A	INTRINSIC
low complexity region	349	388	N/A	INTRINSIC
low complexity region	397	434	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: This gene is located at the 5' end of the Hoxd gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. The encoded protein plays a role in limb morphogenesis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, male infertility, short limbs, and abnormalities in phalanx, carpal bone and metacarpal bone morphology. [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
Abca5	T	A	11: 110,182,931 (GRCm39)	E1042V	probably benign	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Aip	T	G	19: 4,165,188 (GRCm39)	D227A	probably benign	Het
Ankrd13d	T	C	19: 4,323,081 (GRCm39)	H283R	probably damaging	Het
Aox4	C	T	1: 58,303,094 (GRCm39)	T1175I	probably damaging	Het
Atn1	T	C	6: 124,723,700 (GRCm39)		probably benign	Het
Camkk2	A	G	5: 122,902,187 (GRCm39)	S41P	probably damaging	Het
Ceacam16	G	A	7: 19,595,182 (GRCm39)		probably benign	Het
Dcaf15	T	C	8: 84,824,626 (GRCm39)	N524D	possibly damaging	Het
Dcaf7	A	T	11: 105,928,077 (GRCm39)	Y43F	probably damaging	Het
Epha3	T	C	16: 63,433,287 (GRCm39)	I453V	probably benign	Het
Etv1	A	T	12: 38,915,640 (GRCm39)	T413S	possibly damaging	Het
Fam168b	G	A	1: 34,858,684 (GRCm39)	A166V	probably damaging	Het
Fancm	A	T	12: 65,141,669 (GRCm39)	Y430F	probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gabbr1	T	C	17: 37,374,271 (GRCm39)	I538T	probably damaging	Het
Glyctk	T	A	9: 106,033,691 (GRCm39)	T208S	possibly damaging	Het
Golga7	T	C	8: 23,735,904 (GRCm39)	D114G	probably damaging	Het
Grip1	T	C	10: 119,733,702 (GRCm39)		probably null	Het
Gtf2f1	G	T	17: 57,311,161 (GRCm39)	S351R	probably damaging	Het
Hook2	T	C	8: 85,721,642 (GRCm39)	L300P	probably damaging	Het
Hsf4	A	G	8: 105,997,481 (GRCm39)	S45G	probably damaging	Het
Iars1	T	A	13: 49,876,190 (GRCm39)	M825K	probably damaging	Het
Kcnj2	A	G	11: 110,963,315 (GRCm39)	I236V	probably benign	Het
Large2	G	A	2: 92,197,433 (GRCm39)	T354I	probably benign	Het
Mak	C	A	13: 41,206,828 (GRCm39)	V101F	probably benign	Het
Mylk2	A	G	2: 152,757,673 (GRCm39)		probably null	Het
Myo18b	A	T	5: 113,020,373 (GRCm39)		probably null	Het
Neb	T	A	2: 52,037,249 (GRCm39)	H2955L	probably benign	Het
Neurl1a	G	C	19: 47,228,367 (GRCm39)	G71A	probably damaging	Het
Ogfrl1	A	T	1: 23,415,309 (GRCm39)	L142Q	probably damaging	Het
Or11g27	C	A	14: 50,771,612 (GRCm39)	H248N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,556,160 (GRCm39)	T242A	probably damaging	Het
P3h4	C	A	11: 100,302,671 (GRCm39)	A322S	probably damaging	Het
Piwil2	A	C	14: 70,660,342 (GRCm39)		probably null	Het
Pkd2l2	A	G	18: 34,561,297 (GRCm39)	D435G	probably damaging	Het
Plekha6	A	G	1: 133,207,145 (GRCm39)	N567S	probably null	Het
Prss54	G	A	8: 96,286,173 (GRCm39)	P300L	possibly damaging	Het
Pxdn	G	A	12: 30,024,000 (GRCm39)	R67Q	probably damaging	Het
Rapgef3	C	A	15: 97,665,292 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,782,550 (GRCm39)	G1147S	possibly damaging	Het
Sh2b3	A	T	5: 121,966,418 (GRCm39)		probably null	Het
Sh3glb1	A	T	3: 144,397,664 (GRCm39)	D358E	probably damaging	Het
Shmt2	C	T	10: 127,353,731 (GRCm39)	R478H	probably benign	Het
Slc1a6	A	G	10: 78,637,671 (GRCm39)	E399G	probably benign	Het
Slc22a23	T	A	13: 34,528,542 (GRCm39)	Y80F	probably damaging	Het
Slc25a19	A	G	11: 115,506,377 (GRCm39)	V272A	probably benign	Het
Stk32a	A	T	18: 43,446,474 (GRCm39)	D308V	probably damaging	Het
Tenm3	T	C	8: 48,707,657 (GRCm39)	I1698V	possibly damaging	Het
Thoc5	G	A	11: 4,865,497 (GRCm39)	V359M	probably benign	Het
Tmpo	C	T	10: 90,998,800 (GRCm39)	R329H	probably benign	Het
Trim8	T	C	19: 46,503,626 (GRCm39)	S393P	probably benign	Het
Vill	A	T	9: 118,895,932 (GRCm39)	Y103F	probably damaging	Het
Zfp948	T	G	17: 21,807,911 (GRCm39)	F368V	probably benign	Het
Zpld1	C	T	16: 55,053,962 (GRCm39)	E277K	probably damaging	Het

Other mutations in Evx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0133:Evx2	UTSW	2	74,489,426 (GRCm39)	missense	possibly damaging	0.93
R0195:Evx2	UTSW	2	74,489,388 (GRCm39)	missense	probably damaging	1.00
R0549:Evx2	UTSW	2	74,489,478 (GRCm39)	missense	probably benign
R0610:Evx2	UTSW	2	74,486,331 (GRCm39)	missense	probably benign	0.16
R0645:Evx2	UTSW	2	74,488,238 (GRCm39)	missense	possibly damaging	0.81
R1608:Evx2	UTSW	2	74,488,195 (GRCm39)	missense	probably damaging	1.00
R1769:Evx2	UTSW	2	74,489,501 (GRCm39)	missense	probably benign	0.00
R2156:Evx2	UTSW	2	74,486,360 (GRCm39)	missense	probably damaging	1.00
R2383:Evx2	UTSW	2	74,488,393 (GRCm39)	critical splice acceptor site	probably null
R4849:Evx2	UTSW	2	74,489,675 (GRCm39)	missense	probably benign	0.34
R5407:Evx2	UTSW	2	74,488,170 (GRCm39)	missense	probably damaging	1.00
R6704:Evx2	UTSW	2	74,486,499 (GRCm39)	missense	probably damaging	1.00
R7447:Evx2	UTSW	2	74,489,448 (GRCm39)	missense	probably benign	0.00
R8394:Evx2	UTSW	2	74,486,321 (GRCm39)	missense	probably benign	0.05
R8757:Evx2	UTSW	2	74,486,226 (GRCm39)	missense	probably benign	0.09
R9217:Evx2	UTSW	2	74,488,109 (GRCm39)	critical splice donor site	probably null
X0017:Evx2	UTSW	2	74,488,136 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCCTTGAGCGGTGCAGC -3'
(R):5'- CATTAAGACGGGACAGCCAG -3'

Sequencing Primer
(F):5'- ACGTCGCTGCTCATGTCG -3'
(R):5'- ACAGCCAGGCCACTGTGAC -3'

Posted On

2017-10-10