Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Efna5'

346287

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

041887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62911179-63188312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62958040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 72 (D72G)

Ref Sequence

ENSEMBL: ENSMUSP00000077883 (fasta)

Gene Model

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

AlphaFold

O08543

Predicted Effect

probably benign
Transcript: ENSMUST00000076840
AA Change: D72G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: D72G

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: D72G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: D72G

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

Meta Mutation Damage Score

0.1204

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Acsl1	A	T	8: 46,979,410 (GRCm39)	I421L	probably benign	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Ctnnd2	A	T	15: 30,887,315 (GRCm39)	M781L	probably benign	Het
Ctnnd2	A	G	15: 31,009,259 (GRCm39)	T1094A	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mrtfb	G	A	16: 13,150,570 (GRCm39)	G102D	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tbc1d24	A	T	17: 24,427,865 (GRCm39)	D32E	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly 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
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'- GGCCTGGCCTGAATTCAAATC -3'
(R):5'- GCGTTCAGTGAAGACTTTTCATAC -3'

Sequencing Primer
(F):5'- GCCTGGCCTGAATTCAAATCCTAAAG -3'
(R):5'- TGTTTGATCTCCAAAGTTATTGAAGG -3'

Posted On

2015-09-25