Mutagenetix > Incidental Mutation

Incidental Mutation 'R1532:Ahrr'

166686

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

039571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74359237-74440450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74361826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 558 (S558P)

Ref Sequence

ENSEMBL: ENSMUSP00000105268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022059] [ENSMUST00000035934] [ENSMUST00000109640]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022059
AA Change: S686P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: S686P

Domain	Start	End	E-Value	Type
HLH	32	86	1.1e-11	SMART
PAS	108	174	6.6e-14	SMART
low complexity region	236	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035934

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

Domain	Start	End	E-Value	Type
Pfam:Sec6	187	743	1.7e-162	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109640
AA Change: S558P

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

SMART Domains

Protein: ENSMUSP00000105268
Gene: ENSMUSG00000021575
AA Change: S558P

Domain	Start	End	E-Value	Type
Blast:PAS	1	46	1e-27	BLAST
PDB:4M4X\|B	1	142	2e-30	PDB
SCOP:d1jnua_	2	63	7e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220548

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that represses aryl hydrocarbon receptor-dependent signaling. The encoded protein competes with the aryl hydrocarbon receptor transcription factor for heterodimerization with the aryl hydrocarbon receptor nuclear translocator protein and binding to xenobiotic response element (XRE) sequence in many genes. This protein is implicated in the regulation of cell growth and differentiation as well as mediating dioxin toxicity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,166,302 (GRCm39)	H394N	probably benign	Het
Ankrd26	T	C	6: 118,499,919 (GRCm39)	N1184S	probably damaging	Het
Anpep	A	T	7: 79,476,696 (GRCm39)	C14*	probably null	Het
Arhgap18	A	G	10: 26,736,718 (GRCm39)	D187G	possibly damaging	Het
Arhgef5	A	G	6: 43,250,337 (GRCm39)	T363A	probably benign	Het
Atxn1	A	T	13: 45,720,386 (GRCm39)	L503Q	possibly damaging	Het
Babam1	A	G	8: 71,852,277 (GRCm39)	D155G	possibly damaging	Het
Bbs9	A	G	9: 22,798,945 (GRCm39)	T858A	probably benign	Het
Cacna1g	C	A	11: 94,334,157 (GRCm39)	G828V	probably damaging	Het
Ccar2	T	C	14: 70,380,405 (GRCm39)	T392A	probably benign	Het
Cd163	T	C	6: 124,289,689 (GRCm39)	V469A	possibly damaging	Het
Cdh23	G	T	10: 60,150,110 (GRCm39)	N2576K	probably damaging	Het
Coro2b	A	G	9: 62,396,705 (GRCm39)	Y18H	probably damaging	Het
Crispld2	G	T	8: 120,750,311 (GRCm39)	K238N	probably benign	Het
Ctnnd2	T	C	15: 30,922,014 (GRCm39)	I880T	probably damaging	Het
Cubn	C	A	2: 13,292,472 (GRCm39)	C3237F	probably damaging	Het
Ddx31	A	G	2: 28,771,171 (GRCm39)	M519V	probably benign	Het
Dhx32	A	T	7: 133,350,753 (GRCm39)	C106S	possibly damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnaaf1	T	C	8: 120,304,162 (GRCm39)	F67L	probably benign	Het
Duox1	T	G	2: 122,175,204 (GRCm39)	L1334R	probably damaging	Het
Dync1li2	A	T	8: 105,152,667 (GRCm39)	I322N	probably damaging	Het
Eml6	T	C	11: 29,742,256 (GRCm39)		probably null	Het
Entpd6	A	G	2: 150,600,670 (GRCm39)	Q126R	probably benign	Het
Entpd7	C	G	19: 43,679,516 (GRCm39)	P23R	possibly damaging	Het
Epha3	T	C	16: 63,366,541 (GRCm39)	I970V	probably benign	Het
Fras1	A	T	5: 96,861,855 (GRCm39)	H2163L	probably damaging	Het
Gse1	C	G	8: 121,294,949 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,999,301 (GRCm39)	V300A	probably damaging	Het
Hsd3b1	T	A	3: 98,760,214 (GRCm39)	D259V	probably damaging	Het
Hspbap1	T	C	16: 35,645,673 (GRCm39)	S453P	probably damaging	Het
Ifnl3	A	G	7: 28,223,652 (GRCm39)	T163A	probably benign	Het
Igbp1b	T	A	6: 138,635,442 (GRCm39)	M1L	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lpxn	T	C	19: 12,781,456 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,655,238 (GRCm39)	Q249*	probably null	Het
Mink1	A	G	11: 70,492,833 (GRCm39)	D153G	probably null	Het
Mllt10	G	A	2: 18,097,646 (GRCm39)		probably null	Het
Mpl	C	T	4: 118,305,765 (GRCm39)	G420E	possibly damaging	Het
Ms4a1	T	A	19: 11,230,557 (GRCm39)	T215S	probably benign	Het
Ncapd3	C	T	9: 26,994,656 (GRCm39)	Q1179*	probably null	Het
Nr3c2	A	G	8: 77,635,733 (GRCm39)	H278R	probably damaging	Het
Or10v5	T	C	19: 11,805,983 (GRCm39)	I136V	probably benign	Het
Or52e18	T	C	7: 104,609,472 (GRCm39)	I156V	probably benign	Het
Or5b102	A	G	19: 13,041,639 (GRCm39)	Y288C	probably damaging	Het
Os9	C	T	10: 126,934,771 (GRCm39)	V353M	probably damaging	Het
Osbpl5	A	T	7: 143,248,817 (GRCm39)	M589K	probably benign	Het
Phf20	G	T	2: 156,144,969 (GRCm39)	G859V	possibly damaging	Het
Pkhd1	G	A	1: 20,187,625 (GRCm39)	T3561I	probably benign	Het
Prss46	G	A	9: 110,679,236 (GRCm39)	V146I	probably benign	Het
Ptprk	G	A	10: 28,461,626 (GRCm39)	V1139M	probably damaging	Het
Ranbp10	A	G	8: 106,500,963 (GRCm39)	L396P	probably benign	Het
Rb1cc1	A	G	1: 6,319,958 (GRCm39)	T1126A	probably benign	Het
Rbl2	G	A	8: 91,833,045 (GRCm39)	A659T	probably benign	Het
Rdm1	T	C	11: 101,524,643 (GRCm39)	L192P	probably damaging	Het
Reln	A	C	5: 22,239,742 (GRCm39)	W842G	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sele	A	G	1: 163,881,420 (GRCm39)	K509R	probably benign	Het
Slc15a1	A	T	14: 121,713,396 (GRCm39)	I377N	possibly damaging	Het
Slc17a3	G	A	13: 24,040,483 (GRCm39)	G269D	probably damaging	Het
Slc35a5	T	C	16: 44,971,920 (GRCm39)	T115A	probably benign	Het
Slc5a12	T	G	2: 110,440,483 (GRCm39)	N157K	possibly damaging	Het
Sphkap	A	G	1: 83,234,924 (GRCm39)	V1634A	probably damaging	Het
Spta1	T	C	1: 174,074,919 (GRCm39)	S2382P	probably damaging	Het
Synj2	C	A	17: 6,084,194 (GRCm39)	S1100R	probably benign	Het
Tcf23	A	G	5: 31,130,901 (GRCm39)	T180A	probably benign	Het
Tnxb	T	C	17: 34,929,804 (GRCm39)	V2846A	probably damaging	Het
Tpr	T	A	1: 150,293,751 (GRCm39)	I915K	probably damaging	Het
Uba1y	C	T	Y: 828,862 (GRCm39)	H557Y	probably benign	Het
Unc45b	T	A	11: 82,827,700 (GRCm39)	D730E	probably benign	Het
Unc5b	A	T	10: 60,605,011 (GRCm39)	L734Q	probably damaging	Het
Vmn1r167	G	T	7: 23,204,204 (GRCm39)	H271N	probably benign	Het
Vmn2r76	A	G	7: 85,879,454 (GRCm39)	V282A	probably benign	Het
Xirp2	A	G	2: 67,344,283 (GRCm39)	K2175E	probably benign	Het

Other mutations in Ahrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Ahrr	APN	13	74,368,692 (GRCm39)	missense	possibly damaging	0.52
IGL03143:Ahrr	APN	13	74,405,614 (GRCm39)	nonsense	probably null
calico_jack	UTSW	13	74,371,031 (GRCm39)	missense	possibly damaging	0.51
piracy	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0009:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0010:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0010:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0040:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0079:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0082:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0164:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0165:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0167:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0310:Ahrr	UTSW	13	74,431,143 (GRCm39)	splice site	probably benign
R0344:Ahrr	UTSW	13	74,362,705 (GRCm39)	missense	probably damaging	1.00
R0948:Ahrr	UTSW	13	74,361,888 (GRCm39)	missense	probably damaging	1.00
R1192:Ahrr	UTSW	13	74,362,522 (GRCm39)	missense	probably benign	0.00
R1438:Ahrr	UTSW	13	74,372,987 (GRCm39)	nonsense	probably null
R1600:Ahrr	UTSW	13	74,362,497 (GRCm39)	missense	probably benign	0.00
R2302:Ahrr	UTSW	13	74,425,780 (GRCm39)	missense	probably damaging	1.00
R3055:Ahrr	UTSW	13	74,373,006 (GRCm39)	missense	probably damaging	1.00
R4683:Ahrr	UTSW	13	74,372,885 (GRCm39)	splice site	silent
R4717:Ahrr	UTSW	13	74,363,885 (GRCm39)	missense	probably benign	0.03
R4769:Ahrr	UTSW	13	74,362,331 (GRCm39)	missense	probably damaging	1.00
R5998:Ahrr	UTSW	13	74,361,955 (GRCm39)	missense	probably damaging	0.99
R6225:Ahrr	UTSW	13	74,371,031 (GRCm39)	missense	possibly damaging	0.51
R7156:Ahrr	UTSW	13	74,378,035 (GRCm39)	missense	probably damaging	1.00
R7424:Ahrr	UTSW	13	74,405,664 (GRCm39)	nonsense	probably null
R8441:Ahrr	UTSW	13	74,362,182 (GRCm39)	missense	probably benign	0.03
R8502:Ahrr	UTSW	13	74,431,193 (GRCm39)	missense	probably damaging	1.00
R8534:Ahrr	UTSW	13	74,368,799 (GRCm39)	missense	probably damaging	1.00
Z1177:Ahrr	UTSW	13	74,372,895 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGCTAGGCTACACACAGGGAATC -3'
(R):5'- TGCCAGGATGCACCTGAAAACAG -3'

Sequencing Primer
(F):5'- CAGGGAATCTCAGCCTCAC -3'
(R):5'- GGTATGCTGGGAACTAATCCCTAC -3'

Posted On

2014-04-13