Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Efna5'

201503

Institutional Source

Beutler Lab

Gene Symbol

Efna5

Ensembl Gene

ENSMUSG00000048915

Gene Name

ephrin A5

Synonyms

AL-1, RAGS, Ephrin-A5, Epl7, EFL-5, LERK-7

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62911179-63188312 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62914467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]

AlphaFold

O08543

Predicted Effect

probably benign
Transcript: ENSMUST00000076840

SMART Domains

Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Ephrin	29	158	4.5e-42	PFAM
low complexity region	214	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078839

SMART Domains

Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Ephrin	26	164	2.4e-58	PFAM
low complexity region	187	201	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,873,986 (GRCm39)	R412G	probably damaging	Het
Adamts3	T	A	5: 89,832,326 (GRCm39)	N927Y	probably benign	Het
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Agpat3	C	A	10: 78,123,881 (GRCm39)		probably benign	Het
AI182371	T	A	2: 34,975,733 (GRCm39)	Q277L	possibly damaging	Het
Arhgef15	A	T	11: 68,845,342 (GRCm39)	L170Q	possibly damaging	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Bspry	G	C	4: 62,404,791 (GRCm39)	A196P	probably damaging	Het
Cacna1c	T	A	6: 118,570,988 (GRCm39)	L2095F	probably damaging	Het
Cdhr2	A	T	13: 54,874,651 (GRCm39)	S908C	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Dynap	A	G	18: 70,375,105 (GRCm39)	S37P	possibly damaging	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Fbxw16	T	A	9: 109,277,232 (GRCm39)	S37C	probably damaging	Het
Galnt4	A	G	10: 98,944,374 (GRCm39)	Y33C	probably benign	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Krt71	C	A	15: 101,647,753 (GRCm39)	E222D	probably damaging	Het
Ltf	T	A	9: 110,858,636 (GRCm39)	D461E	possibly damaging	Het
Mapk4	A	T	18: 74,068,109 (GRCm39)	L274Q	probably damaging	Het
Mbd6	A	G	10: 127,122,741 (GRCm39)	C103R	probably damaging	Het
Nbeal1	A	G	1: 60,321,030 (GRCm39)	N2047S	probably benign	Het
Nefh	C	T	11: 4,895,184 (GRCm39)	S335N	possibly damaging	Het
Obscn	G	T	11: 58,934,803 (GRCm39)	H4715N	probably damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Or6d13	G	A	6: 116,518,295 (GRCm39)	V294I	possibly damaging	Het
Or8g34	T	A	9: 39,372,772 (GRCm39)	F12Y	probably benign	Het
Pck1	A	G	2: 172,997,003 (GRCm39)	E215G	probably benign	Het
Peg12	T	A	7: 62,113,308 (GRCm39)	E263V	unknown	Het
Phkg1	T	A	5: 129,903,103 (GRCm39)	T15S	probably benign	Het
Plekhg1	T	A	10: 3,914,076 (GRCm39)	L1120*	probably null	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rnf112	T	A	11: 61,343,181 (GRCm39)	R165W	probably damaging	Het
Rnf213	A	G	11: 119,293,401 (GRCm39)	T51A	probably benign	Het
Rnf220	A	G	4: 117,130,481 (GRCm39)	L293P	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Rp1	A	G	1: 4,414,851 (GRCm39)	V2087A	probably benign	Het
Rpl7a	A	G	2: 26,801,563 (GRCm39)		probably null	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Skor1	T	G	9: 63,053,133 (GRCm39)	T279P	probably damaging	Het
Son	A	T	16: 91,456,221 (GRCm39)	E1656V	probably damaging	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Treh	T	C	9: 44,594,910 (GRCm39)	V262A	probably benign	Het
Trpm4	A	G	7: 44,954,370 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,708,739 (GRCm39)	I124V	probably benign	Het
Wdr53	T	C	16: 32,075,473 (GRCm39)	V226A	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het

Other mutations in Efna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Efna5	APN	17	62,920,374 (GRCm39)	missense	possibly damaging	0.73
IGL02142:Efna5	APN	17	62,914,340 (GRCm39)	missense	unknown
IGL02152:Efna5	APN	17	62,958,055 (GRCm39)	missense	probably benign
IGL02534:Efna5	APN	17	62,920,384 (GRCm39)	nonsense	probably null
IGL02556:Efna5	APN	17	62,958,023 (GRCm39)	missense	probably damaging	0.99
R0265:Efna5	UTSW	17	62,958,068 (GRCm39)	missense	probably damaging	1.00
R0422:Efna5	UTSW	17	62,914,414 (GRCm39)	missense	probably benign	0.05
R0565:Efna5	UTSW	17	63,188,031 (GRCm39)	missense	probably damaging	1.00
R2039:Efna5	UTSW	17	63,188,061 (GRCm39)	missense	probably benign	0.00
R2570:Efna5	UTSW	17	63,188,023 (GRCm39)	missense	probably benign	0.04
R4621:Efna5	UTSW	17	62,958,040 (GRCm39)	missense	probably benign	0.00
R4622:Efna5	UTSW	17	62,958,040 (GRCm39)	missense	probably benign	0.00
R5672:Efna5	UTSW	17	63,188,025 (GRCm39)	missense	probably damaging	1.00
R5723:Efna5	UTSW	17	62,914,458 (GRCm39)	missense	probably damaging	1.00
R7876:Efna5	UTSW	17	62,957,929 (GRCm39)	missense	possibly damaging	0.74
R8049:Efna5	UTSW	17	62,957,977 (GRCm39)	missense	probably benign	0.39
R8432:Efna5	UTSW	17	62,958,017 (GRCm39)	missense	probably damaging	1.00
R8768:Efna5	UTSW	17	63,188,125 (GRCm39)	start codon destroyed	probably null	0.33
R8856:Efna5	UTSW	17	62,914,374 (GRCm39)	missense	unknown
R8921:Efna5	UTSW	17	63,188,053 (GRCm39)	missense	possibly damaging	0.75
RF007:Efna5	UTSW	17	62,920,389 (GRCm39)	missense	probably benign	0.00
X0021:Efna5	UTSW	17	62,914,395 (GRCm39)	missense	probably damaging	0.98
X0025:Efna5	UTSW	17	62,958,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGGTGTTCCAAGACCCTGAC -3'
(R):5'- AGTAGCCCATCCGAGTAGCTTCTG -3'

Sequencing Primer
(F):5'- ACATTTTCTGTGACAGGCGAC -3'
(R):5'- TGAAGGAAGTCCAATTTCCCCTG -3'

Posted On

2014-06-13