Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Efna5'

618963

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

067486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62911179-63188312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62957977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 93 (T93K)

Ref Sequence

ENSEMBL: ENSMUSP00000076115 (fasta)

Gene Model

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

AlphaFold

O08543

PDB Structure

EphB2 / EphrinA5 Complex Structure [X-RAY DIFFRACTION]
Ephrin A5 ligand structure [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000076840
AA Change: T93K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: T93K

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
AA Change: T93K

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: T93K

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

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	probably damaging	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
R0041:Efna5	UTSW	17	62,914,467 (GRCm39)	splice site	probably benign
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
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'- AATCAGTCAAGAGTTTTGCAGC -3'
(R):5'- CAGAAACACCTCCCGGTATG -3'

Sequencing Primer
(F):5'- AAGAGTTTTGCAGCTGCCC -3'
(R):5'- CACCTCCCGGTATGAATTACC -3'

Posted On

2020-01-23