Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03012:Rarres2'

407799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rarres2

Ensembl Gene

ENSMUSG00000009281

Gene Name

retinoic acid receptor responder (tazarotene induced) 2

Synonyms

chemerin, 0610007L05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

48546630-48549723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48547239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 107 (D107G)

Ref Sequence

ENSEMBL: ENSMUSP00000144799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009425] [ENSMUST00000101436] [ENSMUST00000114545] [ENSMUST00000153222] [ENSMUST00000203627] [ENSMUST00000204930] [ENSMUST00000204267] [ENSMUST00000204182] [ENSMUST00000204071]

AlphaFold

Q9DD06

Predicted Effect

probably benign
Transcript: ENSMUST00000009425
AA Change: D107G

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

SMART Domains

Protein: ENSMUSP00000009425
Gene: ENSMUSG00000009281
AA Change: D107G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101436

SMART Domains

Protein: ENSMUSP00000098979
Gene: ENSMUSG00000073096

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:LRR_1	54	75	1.5e-3	PFAM
Pfam:LRR_8	54	109	8.5e-9	PFAM
low complexity region	113	124	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114545

SMART Domains

Protein: ENSMUSP00000110192
Gene: ENSMUSG00000073096

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:LRR_8	32	87	3.1e-9	PFAM
Pfam:LRR_6	52	76	1.8e-4	PFAM
Pfam:LRR_4	53	95	1.7e-12	PFAM
Pfam:LRR_1	54	74	8.6e-5	PFAM
Pfam:LRR_8	75	131	7.8e-9	PFAM
low complexity region	177	191	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146245

Predicted Effect

probably benign
Transcript: ENSMUST00000153222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203541

Predicted Effect

probably benign
Transcript: ENSMUST00000203627

SMART Domains

Protein: ENSMUSP00000145141
Gene: ENSMUSG00000073096

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:LRR_8	30	87	1.2e-6	PFAM
Pfam:LRR_4	53	95	1.1e-6	PFAM
Pfam:LRR_1	54	75	2.1e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204930
AA Change: D107G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144799
Gene: ENSMUSG00000009281
AA Change: D107G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204267
AA Change: D107G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144793
Gene: ENSMUSG00000009281
AA Change: D107G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204182
AA Change: D107G

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

SMART Domains

Protein: ENSMUSP00000145257
Gene: ENSMUSG00000009281
AA Change: D107G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204071

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 encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, impaired glucose-stimulated insulin secretion and increased clamp hepatic glucose production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 118,986,014 (GRCm39)	S17A	probably benign	Het
Acp1	T	G	12: 30,945,948 (GRCm39)	N135T	probably benign	Het
Adamts2	A	G	11: 50,667,096 (GRCm39)		probably benign	Het
Arfgef2	C	T	2: 166,710,808 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,085,482 (GRCm39)	I287N	probably damaging	Het
Camta1	T	A	4: 151,537,756 (GRCm39)	K141N	probably damaging	Het
Carmil1	T	C	13: 24,220,355 (GRCm39)	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,666,229 (GRCm39)	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,670,300 (GRCm39)		probably null	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
G6pd2	A	G	5: 61,966,816 (GRCm39)	Y197C	probably damaging	Het
Il13ra1	G	T	X: 35,394,247 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,733 (GRCm39)	P111S	probably benign	Het
Kmt2a	T	C	9: 44,722,263 (GRCm39)		probably benign	Het
Lztr1	T	C	16: 17,339,348 (GRCm39)	S57P	possibly damaging	Het
Mtss1	T	G	15: 58,930,249 (GRCm39)	D32A	probably damaging	Het
Mylk	G	A	16: 34,773,151 (GRCm39)	D1250N	probably benign	Het
Ncln	A	G	10: 81,325,799 (GRCm39)	F349L	probably benign	Het
Pgap1	A	G	1: 54,572,572 (GRCm39)		probably benign	Het
Ric3	T	C	7: 108,637,925 (GRCm39)	D276G	probably benign	Het
Trim54	A	G	5: 31,294,489 (GRCm39)	D339G	probably benign	Het
Trip11	G	A	12: 101,850,195 (GRCm39)	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,263,654 (GRCm39)		probably benign	Het
Unc93a	C	T	17: 13,328,495 (GRCm39)	E453K	probably benign	Het
Vmn1r181	A	T	7: 23,684,027 (GRCm39)	D164V	probably damaging	Het
Vmn1r78	T	A	7: 11,887,291 (GRCm39)	S301T	probably benign	Het
Vmn1r85	T	C	7: 12,818,692 (GRCm39)	N151D	probably benign	Het
Wnk2	T	C	13: 49,197,865 (GRCm39)	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,229,691 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,478,153 (GRCm39)	A41V	probably benign	Het
Zfp472	A	G	17: 33,196,545 (GRCm39)	S207G	probably benign	Het

Other mutations in Rarres2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5629:Rarres2	UTSW	6	48,547,194 (GRCm39)	missense	probably benign	0.02
R7874:Rarres2	UTSW	6	48,549,079 (GRCm39)	missense	probably benign	0.08
R9026:Rarres2	UTSW	6	48,549,020 (GRCm39)	critical splice donor site	probably null
R9564:Rarres2	UTSW	6	48,549,164 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02