Mutagenetix > Incidental Mutation

Incidental Mutation 'R0113:Edar'

20592

Institutional Source

Beutler Lab

Gene Symbol

Edar

Ensembl Gene

ENSMUSG00000003227

Gene Name

ectodysplasin-A receptor

Synonyms

MMRRC Submission

038399-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0113 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58436611-58511476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58465271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 31 (C31G)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

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

AlphaFold

Q9R187

Predicted Effect

probably damaging
Transcript: ENSMUST00000003312
AA Change: C31G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: C31G

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

Meta Mutation Damage Score

0.9426

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 95.2%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	A	G	8: 10,976,126 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,242,114 (GRCm39)	I1326F	possibly damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Aspscr1	C	G	11: 120,579,751 (GRCm39)	Q97E	probably damaging	Het
Atad2	A	G	15: 57,984,330 (GRCm39)		probably benign	Het
Atcay	A	T	10: 81,050,554 (GRCm39)		probably null	Het
Brme1	C	T	8: 84,893,871 (GRCm39)	T311I	probably damaging	Het
C4b	T	A	17: 34,960,214 (GRCm39)	Y279F	probably damaging	Het
Cav1	A	T	6: 17,308,048 (GRCm39)	S67C	possibly damaging	Het
Ceacam23	G	A	7: 17,642,873 (GRCm39)		noncoding transcript	Het
Celf2	A	C	2: 6,629,525 (GRCm39)	H113Q	probably damaging	Het
Cep170	A	C	1: 176,586,021 (GRCm39)	N590K	probably damaging	Het
Ces1f	A	T	8: 94,006,327 (GRCm39)	M1K	probably null	Het
Chrna1	C	A	2: 73,397,180 (GRCm39)	D370Y	possibly damaging	Het
Csmd1	C	A	8: 16,034,849 (GRCm39)	G2441C	probably damaging	Het
D630003M21Rik	C	T	2: 158,038,495 (GRCm39)	D984N	possibly damaging	Het
Dhrs1	T	C	14: 55,977,396 (GRCm39)	T241A	probably benign	Het
Eps8	A	G	6: 137,514,682 (GRCm39)	S24P	possibly damaging	Het
Fam149a	T	C	8: 45,794,061 (GRCm39)	E669G	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
G3bp1	T	A	11: 55,386,252 (GRCm39)	V237E	probably benign	Het
Galnt5	A	G	2: 57,888,889 (GRCm39)	E163G	probably benign	Het
Gpr87	T	C	3: 59,086,932 (GRCm39)	D192G	possibly damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Kalrn	A	G	16: 33,870,306 (GRCm39)		probably benign	Het
Kcnk6	T	C	7: 28,931,634 (GRCm39)	D92G	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd6	A	T	1: 52,748,348 (GRCm39)	N172K	probably damaging	Het
Mtcl1	G	T	17: 66,661,237 (GRCm39)	Q1225K	possibly damaging	Het
Nav2	C	T	7: 49,185,701 (GRCm39)	T948M	probably damaging	Het
Nfic	T	C	10: 81,256,419 (GRCm39)	K104E	probably damaging	Het
Nup58	G	A	14: 60,488,740 (GRCm39)		probably benign	Het
Nwd2	A	T	5: 63,965,241 (GRCm39)	K1608N	probably damaging	Het
Or10n1	T	A	9: 39,525,298 (GRCm39)	I145K	probably benign	Het
Or1j21	G	A	2: 36,684,006 (GRCm39)	G253R	probably damaging	Het
Or1j21	G	T	2: 36,684,007 (GRCm39)	G253V	probably damaging	Het
Phf21b	T	C	15: 84,688,968 (GRCm39)	D186G	probably damaging	Het
Poli	C	T	18: 70,661,829 (GRCm39)	C57Y	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,345,927 (GRCm39)	Y256C	probably benign	Het
Satb1	C	A	17: 52,089,726 (GRCm39)	E374*	probably null	Het
Scn4a	C	T	11: 106,236,262 (GRCm39)	E333K	probably benign	Het
Sec14l2	C	T	11: 4,053,661 (GRCm39)		probably benign	Het
Slain1	T	C	14: 103,923,261 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syne2	T	C	12: 75,977,352 (GRCm39)	S1266P	probably damaging	Het
Syne2	A	G	12: 76,080,496 (GRCm39)	E4810G	probably damaging	Het
Tbck	T	C	3: 132,448,841 (GRCm39)	I618T	probably damaging	Het
Tmem132d	A	T	5: 127,861,657 (GRCm39)	N821K	probably benign	Het
Trim28	T	A	7: 12,762,628 (GRCm39)	V381E	probably damaging	Het
Ttc1	T	C	11: 43,636,115 (GRCm39)	S43G	probably benign	Het
Ube2u	A	G	4: 100,338,852 (GRCm39)	E39G	possibly damaging	Het
Urb2	T	C	8: 124,757,665 (GRCm39)	V1124A	probably benign	Het
Usp13	A	G	3: 32,872,025 (GRCm39)		probably benign	Het
Vmn1r216	A	T	13: 23,283,631 (GRCm39)	S105C	probably damaging	Het
Yipf2	T	C	9: 21,501,412 (GRCm39)	T23A	probably damaging	Het
Zfp521	G	A	18: 13,978,148 (GRCm39)	T755M	probably damaging	Het
Zfp619	T	A	7: 39,187,183 (GRCm39)	M1071K	probably benign	Het
Zfp942	A	T	17: 22,148,066 (GRCm39)	C188S	probably benign	Het

Other mutations in Edar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Edar	APN	10	58,464,460 (GRCm39)	missense	probably damaging	1.00
IGL01551:Edar	APN	10	58,441,860 (GRCm39)	splice site	probably benign
IGL02207:Edar	APN	10	58,446,343 (GRCm39)	missense	probably damaging	0.99
IGL02391:Edar	APN	10	58,464,403 (GRCm39)	missense	probably damaging	0.96
IGL03152:Edar	APN	10	58,445,817 (GRCm39)	missense	possibly damaging	0.88
achtung2	UTSW	10	58,438,985 (GRCm39)	missense	probably damaging	1.00
two-tone	UTSW	10	58,439,001 (GRCm39)	missense	probably damaging	1.00
ANU23:Edar	UTSW	10	58,464,460 (GRCm39)	missense	probably damaging	1.00
R0413:Edar	UTSW	10	58,465,262 (GRCm39)	missense	probably benign	0.00
R0927:Edar	UTSW	10	58,465,313 (GRCm39)	splice site	probably null
R1217:Edar	UTSW	10	58,464,453 (GRCm39)	missense	probably damaging	1.00
R1458:Edar	UTSW	10	58,443,188 (GRCm39)	missense	probably benign	0.27
R1651:Edar	UTSW	10	58,441,875 (GRCm39)	missense	possibly damaging	0.49
R3820:Edar	UTSW	10	58,457,185 (GRCm39)	missense	probably damaging	1.00
R3932:Edar	UTSW	10	58,446,164 (GRCm39)	missense	probably damaging	1.00
R4050:Edar	UTSW	10	58,445,769 (GRCm39)	missense	possibly damaging	0.74
R4911:Edar	UTSW	10	58,457,146 (GRCm39)	missense	probably benign	0.03
R4924:Edar	UTSW	10	58,465,197 (GRCm39)	missense	probably damaging	1.00
R4998:Edar	UTSW	10	58,441,915 (GRCm39)	missense	probably damaging	1.00
R5311:Edar	UTSW	10	58,443,257 (GRCm39)	missense	possibly damaging	0.68
R5314:Edar	UTSW	10	58,443,182 (GRCm39)	missense	probably benign	0.00
R5371:Edar	UTSW	10	58,443,274 (GRCm39)	missense	possibly damaging	0.64
R5566:Edar	UTSW	10	58,464,463 (GRCm39)	missense	possibly damaging	0.50
R5847:Edar	UTSW	10	58,439,001 (GRCm39)	missense	probably damaging	1.00
R7330:Edar	UTSW	10	58,446,376 (GRCm39)	missense	probably damaging	0.98
R7529:Edar	UTSW	10	58,447,830 (GRCm39)	missense	probably benign
R7812:Edar	UTSW	10	58,465,926 (GRCm39)	missense	probably benign
R7872:Edar	UTSW	10	58,446,348 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTTAATGTGCTGTGAGTCCACACCC -3'
(R):5'- AATGCCTGTCAGTGAAGAGTTAGCC -3'

Sequencing Primer
(F):5'- AGTCCACACCCCTGTGC -3'
(R):5'- ATAGGTTCAGACAGCCTGCTC -3'

Posted On

2013-04-11