Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Edar'

428741

Institutional Source

Beutler Lab

Gene Symbol

Edar

Ensembl Gene

ENSMUSG00000003227

Gene Name

ectodysplasin-A receptor

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58436611-58511476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58443274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 284 (V284G)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

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

AlphaFold

Q9R187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003312
AA Change: V284G

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: V284G

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

0.0753

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	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
R0113:Edar	UTSW	10	58,465,271 (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
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'- TTGTCTGATGGCTGTAAGTCAC -3'
(R):5'- TGCTTGTTTGTCAGGAAACAGG -3'

Sequencing Primer
(F):5'- CTGCACCAGTGTACCACAGG -3'
(R):5'- TTTGTCAGGAAACAGGATGTGCC -3'

Posted On

2016-09-06