Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Rarres1'

List |< first << previous [record 26 of 36] next >> last >|

283059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rarres1

Ensembl Gene

ENSMUSG00000049404

Gene Name

retinoic acid receptor responder (tazarotene induced) 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

67478972-67515523 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67495756 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 104 (N104S)

Ref Sequence

ENSEMBL: ENSMUSP00000056728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054825]

Predicted Effect

probably benign
Transcript: ENSMUST00000054825
AA Change: N104S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404
AA Change: N104S

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
Pfam:Latexin	81	299	8e-103	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Rarres1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03115:Rarres1	APN	3	67495812	critical splice acceptor site	probably null
R3815:Rarres1	UTSW	3	67515321	missense	probably benign	0.00
R3979:Rarres1	UTSW	3	67495810	missense	probably benign	0.13
R6586:Rarres1	UTSW	3	67491033	missense	probably damaging	1.00
R7286:Rarres1	UTSW	3	67515184	missense	probably benign
R7696:Rarres1	UTSW	3	67491012	missense	probably benign
R7816:Rarres1	UTSW	3	67479344	missense	probably damaging	0.99

Posted On

2015-04-16