Mutagenetix > Incidental Mutations

Incidental Mutation 'R7529:Edar'

583205

Institutional Source

Beutler Lab

Gene Symbol

Edar

Ensembl Gene

ENSMUSG00000003227

Gene Name

ectodysplasin-A receptor

Synonyms

anhidrotic ectodysplasin receptor 1, ectodermal dysplasia receptor, ectodysplasin A1 isoform receptor (EDA-A1R), downless (dl), ED1R, ED3, ED5, EDA3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58600789-58675654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58612008 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 160 (S160T)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003312]

Predicted Effect

probably benign
Transcript: ENSMUST00000003312
AA Change: S160T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: S160T

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:TNFR	31	71	2e-16	BLAST
SCOP:d1jmab1	31	91	2e-3	SMART
Blast:TNFR	74	113	5e-20	BLAST
low complexity region	149	169	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
low complexity region	214	229	N/A	INTRINSIC
SCOP:d1ngr__	348	430	2e-4	SMART
low complexity region	439	448	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 128,237,164	K86*	probably null	Het
Ablim3	A	C	18: 61,821,968	S317A	probably benign	Het
Adcy1	T	C	11: 7,139,157	S524P	probably damaging	Het
Agps	C	A	2: 75,832,352	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,954,022	R250S	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atoh8	G	T	6: 72,223,841	D288E	probably benign	Het
B3galt2	A	C	1: 143,646,536	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,270,766	V343I	probably benign	Het
Cage1	T	C	13: 38,025,755	N82S	possibly damaging	Het
Cep350	A	G	1: 155,861,923	S2725P	probably benign	Het
Cfap65	T	C	1: 74,926,610	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,631,758	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,097,434	M382K	probably benign	Het
Dchs2	G	A	3: 83,354,398	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,416,419	N51S	probably damaging	Het
Dnah17	A	G	11: 118,049,866		probably null	Het
Dnal1	A	G	12: 84,131,343	I35V	probably benign	Het
Dtnbp1	A	G	13: 44,931,070	F198S	probably damaging	Het
Enpp3	A	T	10: 24,798,174	N409K	probably damaging	Het
Ercc6	T	A	14: 32,560,729	C726*	probably null	Het
Extl2	G	A	3: 116,027,406	V301I	possibly damaging	Het
G2e3	A	G	12: 51,371,604	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Galnt17	A	G	5: 131,306,380	V74A	probably damaging	Het
Ggta1	A	G	2: 35,414,244	W76R	probably damaging	Het
Gm13089	T	C	4: 143,702,674			Het
Gm9573	A	T	17: 35,619,231	S1354R	unknown	Het
Gm9772	T	A	17: 22,007,159	D48V	probably benign	Het
Herpud2	T	C	9: 25,108,897	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,736,334	S53P	possibly damaging	Het
Il23r	T	A	6: 67,490,736	M16L	possibly damaging	Het
Ints1	G	A	5: 139,767,726	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,194,598	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,630,331	V248E	probably damaging	Het
Krtap5-5	A	G	7: 142,229,692	C74R	unknown	Het
Luzp1	G	T	4: 136,540,932	L155F	probably damaging	Het
Mcam	T	C	9: 44,138,895	V209A	probably benign	Het
Med1	G	C	11: 98,155,965	T1335R	unknown	Het
Mroh2b	A	G	15: 4,949,009	I1346V	probably damaging	Het
Mrpl4	C	G	9: 21,007,679	Q201E	probably benign	Het
Mylk2	T	C	2: 152,915,704	L326P	probably damaging	Het
Myot	A	T	18: 44,346,173	R326*	probably null	Het
Nox3	T	A	17: 3,671,775	R288S	probably damaging	Het
Nox4	A	T	7: 87,395,768	Y572F	unknown	Het
Olfr1396	A	G	11: 49,112,859	L289P	probably damaging	Het
Olfr1436	A	G	19: 12,298,722	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,474,473	E253*	probably null	Het
Plcb2	T	C	2: 118,710,234	H1052R	probably damaging	Het
Plpp5	A	T	8: 25,724,206	Q250L	probably benign	Het
Plxna2	T	C	1: 194,643,871	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,283,180	K172E	probably benign	Het
Prl8a9	T	A	13: 27,560,528	D110V	probably benign	Het
Prss52	T	A	14: 64,109,588	H70Q	probably benign	Het
Rcc1	T	C	4: 132,334,563	T300A	probably benign	Het
Rnf114	T	C	2: 167,507,094	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,298,914	I431T	probably damaging	Het
Rnmt	A	G	18: 68,311,655	M232V	probably benign	Het
Rrs1	A	C	1: 9,546,192	Q223H	probably benign	Het
Scyl3	A	T	1: 163,943,869	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,264,448	T533S	probably benign	Het
Slc26a2	A	G	18: 61,198,358	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,384,482	V260D	possibly damaging	Het
Snrpa	A	C	7: 27,189,453	M174R	probably benign	Het
Ss18l1	C	T	2: 180,058,157	A270V	possibly damaging	Het
Stk19	G	T	17: 34,824,656	Q193K	probably benign	Het
Syne1	T	A	10: 5,424,382	I142L	probably damaging	Het
Tbx2	T	C	11: 85,840,901	S675P	probably benign	Het
Tcaf1	A	G	6: 42,675,355	I731T	probably damaging	Het
Tg	G	T	15: 66,694,768	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,597,948	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Wls	A	T	3: 159,873,007	N69Y	probably benign	Het
Wnk2	A	G	13: 49,100,981	F353L	possibly damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp64	C	T	2: 168,894,072	G562R	probably benign	Het
Zfp663	T	G	2: 165,352,808	E497A	probably damaging	Het
Zfp995	A	T	17: 21,880,352	C300*	probably null	Het

Other mutations in Edar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Edar	APN	10	58628638	missense	probably damaging	1.00
IGL01551:Edar	APN	10	58606038	splice site	probably benign
IGL02207:Edar	APN	10	58610521	missense	probably damaging	0.99
IGL02391:Edar	APN	10	58628581	missense	probably damaging	0.96
IGL03152:Edar	APN	10	58609995	missense	possibly damaging	0.88
achtung2	UTSW	10	58603163	missense	probably damaging	1.00
two-tone	UTSW	10	58603179	missense	probably damaging	1.00
ANU23:Edar	UTSW	10	58628638	missense	probably damaging	1.00
R0113:Edar	UTSW	10	58629449	missense	probably damaging	1.00
R0413:Edar	UTSW	10	58629440	missense	probably benign	0.00
R0927:Edar	UTSW	10	58629491	splice site	probably null
R1217:Edar	UTSW	10	58628631	missense	probably damaging	1.00
R1458:Edar	UTSW	10	58607366	missense	probably benign	0.27
R1651:Edar	UTSW	10	58606053	missense	possibly damaging	0.49
R3820:Edar	UTSW	10	58621363	missense	probably damaging	1.00
R3932:Edar	UTSW	10	58610342	missense	probably damaging	1.00
R4050:Edar	UTSW	10	58609947	missense	possibly damaging	0.74
R4911:Edar	UTSW	10	58621324	missense	probably benign	0.03
R4924:Edar	UTSW	10	58629375	missense	probably damaging	1.00
R4998:Edar	UTSW	10	58606093	missense	probably damaging	1.00
R5311:Edar	UTSW	10	58607435	missense	possibly damaging	0.68
R5314:Edar	UTSW	10	58607360	missense	probably benign	0.00
R5371:Edar	UTSW	10	58607452	missense	possibly damaging	0.64
R5566:Edar	UTSW	10	58628641	missense	possibly damaging	0.50
R5847:Edar	UTSW	10	58603179	missense	probably damaging	1.00
R7330:Edar	UTSW	10	58610554	missense	probably damaging	0.98
R7812:Edar	UTSW	10	58630104	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATACTGCAGCTGATCATGCAG -3'
(R):5'- GTGTCAGAGTACTCTTTAGGGAAC -3'

Sequencing Primer
(F):5'- GCAGCAATCATGTGACTCTG -3'
(R):5'- GGGAACTTTAAACATTTCCTCTCTG -3'

Posted On

2019-10-17