Mutagenetix > Incidental Mutation

Incidental Mutation 'R9069:Ahr'

731364

Institutional Source

Beutler Lab

Gene Symbol

Ahr

Ensembl Gene

ENSMUSG00000019256

Gene Name

aryl-hydrocarbon receptor

Synonyms

In, bHLHe76, dioxin receptor, Ah, Ahh, Ahre

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R9069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35547978-35584988 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 35562771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110811] [ENSMUST00000116436]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110811

SMART Domains

Protein: ENSMUSP00000106434
Gene: ENSMUSG00000019256

Domain	Start	End	E-Value	Type
HLH	33	87	3.31e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116436

SMART Domains

Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256

Domain	Start	End	E-Value	Type
HLH	33	87	5.09e-7	SMART
PAS	111	177	2.72e-12	SMART
low complexity region	212	222	N/A	INTRINSIC
PAS	266	336	1.77e-2	SMART
PAC	342	383	2.39e-8	SMART
low complexity region	606	640	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, knock-out(2) Targeted, other(6) Other(4)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,818,523 (GRCm39)	C103S	probably damaging	Het
Adamts20	T	C	15: 94,236,349 (GRCm39)	S841G	probably benign	Het
Add3	T	A	19: 53,222,332 (GRCm39)	V313E	possibly damaging	Het
Ankrd12	T	A	17: 66,356,874 (GRCm39)	M48L	probably benign	Het
Apaf1	A	C	10: 90,859,580 (GRCm39)		probably null	Het
Bank1	T	C	3: 135,989,772 (GRCm39)	H106R	probably benign	Het
Birc6	A	G	17: 74,868,260 (GRCm39)		probably benign	Het
Castor1	A	G	11: 4,170,141 (GRCm39)	E73G	probably benign	Het
Ccdc170	C	T	10: 4,511,016 (GRCm39)	H692Y	possibly damaging	Het
Cd93	A	G	2: 148,284,071 (GRCm39)	I425T	probably benign	Het
Celsr1	A	C	15: 85,914,772 (GRCm39)	L1067R	possibly damaging	Het
Clca3a2	A	T	3: 144,519,447 (GRCm39)		probably benign	Het
Col14a1	T	C	15: 55,251,990 (GRCm39)	S549P	unknown	Het
Col6a4	A	G	9: 105,952,138 (GRCm39)	S587P	possibly damaging	Het
Crebbp	C	A	16: 3,903,187 (GRCm39)	M2017I	probably benign	Het
Crybg1	A	C	10: 43,874,103 (GRCm39)	F1002V	probably benign	Het
Ctif	T	C	18: 75,654,458 (GRCm39)	E356G	probably damaging	Het
Dbx2	T	C	15: 95,530,239 (GRCm39)	K243E	probably damaging	Het
Dgkh	C	T	14: 78,853,957 (GRCm39)	V394I	probably damaging	Het
Dnaja4	T	A	9: 54,621,638 (GRCm39)	M321K	probably benign	Het
Dock9	T	C	14: 121,866,324 (GRCm39)	N593S	probably damaging	Het
Dot1l	T	A	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Eea1	A	T	10: 95,831,510 (GRCm39)	L200F	probably damaging	Het
Elp2	T	G	18: 24,765,833 (GRCm39)	F658V	probably benign	Het
Fbxw15	G	A	9: 109,394,468 (GRCm39)	Q116*	probably null	Het
Fstl5	A	T	3: 76,615,416 (GRCm39)	N826Y	probably damaging	Het
Galp	T	C	7: 6,214,347 (GRCm39)	S60P	possibly damaging	Het
Gm7298	G	T	6: 121,761,393 (GRCm39)	M1316I	probably benign	Het
Gsdmc	T	C	15: 63,649,902 (GRCm39)	M330V	probably benign	Het
Hectd2	T	C	19: 36,562,862 (GRCm39)	F175L	probably benign	Het
Hmbs	A	G	9: 44,248,102 (GRCm39)	I318T	possibly damaging	Het
Ifi205	T	C	1: 173,855,841 (GRCm39)	D63G	probably benign	Het
Il10ra	T	A	9: 45,167,396 (GRCm39)	Q387L	probably damaging	Het
Kcnj14	C	A	7: 45,469,388 (GRCm39)	G39V	probably benign	Het
Kpna1	T	C	16: 35,836,381 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,331,996 (GRCm39)	D1586E	probably damaging	Het
Lrrc45	A	G	11: 120,607,947 (GRCm39)	I243V	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mamdc4	G	T	2: 25,453,371 (GRCm39)	T1216N	probably damaging	Het
Map1a	A	C	2: 121,134,145 (GRCm39)	K1654Q	probably benign	Het
Mta2	G	A	19: 8,924,104 (GRCm39)	V195M	probably damaging	Het
Nav2	G	T	7: 49,208,561 (GRCm39)	R1583L	probably damaging	Het
Or2y1g	A	T	11: 49,171,247 (GRCm39)	T91S	probably benign	Het
Or4c112	A	T	2: 88,854,308 (GRCm39)	L13Q	probably damaging	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
Osbpl1a	T	A	18: 13,002,074 (GRCm39)		probably benign	Het
Pcdh17	T	C	14: 84,685,084 (GRCm39)	V517A	possibly damaging	Het
Pcdhb14	T	A	18: 37,583,157 (GRCm39)	C754*	probably null	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhm3	T	C	1: 64,960,802 (GRCm39)	N485D	probably benign	Het
Plekho1	A	C	3: 95,902,995 (GRCm39)	S14A	unknown	Het
Ppp2r3d	A	T	9: 101,090,006 (GRCm39)	C106S	probably benign	Het
Ppp6c	A	C	2: 39,094,928 (GRCm39)	L99R	probably damaging	Het
Pramel27	A	G	4: 143,578,345 (GRCm39)	S202G	probably benign	Het
Prkdc	T	A	16: 15,653,091 (GRCm39)	Y3855*	probably null	Het
Ptpru	A	T	4: 131,503,565 (GRCm39)	I1155N	possibly damaging	Het
Reln	C	T	5: 22,216,059 (GRCm39)	G1042D	probably damaging	Het
Sall4	A	G	2: 168,596,773 (GRCm39)	V689A	probably benign	Het
Sec31b	C	T	19: 44,507,741 (GRCm39)	G768S	probably damaging	Het
Serpinb10	T	A	1: 107,474,549 (GRCm39)	V237D	probably benign	Het
Serpinb9	T	G	13: 33,199,579 (GRCm39)	D291E	probably benign	Het
Slc12a7	T	G	13: 73,954,089 (GRCm39)		probably benign	Het
Slfn8	A	T	11: 82,907,902 (GRCm39)	F214I	probably damaging	Het
Slu7	A	T	11: 43,328,952 (GRCm39)	D58V	probably damaging	Het
Smu1	T	C	4: 40,745,558 (GRCm39)	Y254C	probably damaging	Het
Snapc4	A	T	2: 26,260,805 (GRCm39)	Y479*	probably null	Het
Specc1l	A	G	10: 75,066,640 (GRCm39)	N30D	probably benign	Het
Spopfm1	A	C	3: 94,173,153 (GRCm39)	S50R	possibly damaging	Het
Tbck	T	C	3: 132,428,130 (GRCm39)		probably null	Het
Tcf7l1	T	C	6: 72,610,259 (GRCm39)	Y246C	probably damaging	Het
Tmem43	C	T	6: 91,463,897 (GRCm39)	R391W	possibly damaging	Het
Trav7-1	T	G	14: 52,892,566 (GRCm39)	S40A	possibly damaging	Het
Trim45	T	A	3: 100,832,440 (GRCm39)	Y224*	probably null	Het
Trio	A	T	15: 27,852,097 (GRCm39)	I798N	possibly damaging	Het
Trnau1ap	A	T	4: 132,056,662 (GRCm39)		probably null	Het
Vmn1r213	T	C	13: 23,196,043 (GRCm39)	S209P	probably damaging	Het
Ythdf1	G	T	2: 180,552,857 (GRCm39)	R453S	probably damaging	Het

Other mutations in Ahr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Ahr	APN	12	35,554,096 (GRCm39)	nonsense	probably null
IGL01336:Ahr	APN	12	35,553,839 (GRCm39)	missense	probably benign	0.19
IGL01972:Ahr	APN	12	35,554,448 (GRCm39)	missense	possibly damaging	0.89
IGL02117:Ahr	APN	12	35,562,922 (GRCm39)	nonsense	probably null
IGL03028:Ahr	APN	12	35,554,709 (GRCm39)	missense	probably benign
IGL03110:Ahr	APN	12	35,554,970 (GRCm39)	missense	probably damaging	0.98
IGL03394:Ahr	APN	12	35,553,751 (GRCm39)	nonsense	probably null
IGL03403:Ahr	APN	12	35,554,325 (GRCm39)	missense	possibly damaging	0.63
BB002:Ahr	UTSW	12	35,565,067 (GRCm39)	nonsense	probably null
BB012:Ahr	UTSW	12	35,565,067 (GRCm39)	nonsense	probably null
R0620:Ahr	UTSW	12	35,558,193 (GRCm39)	missense	probably benign	0.26
R0784:Ahr	UTSW	12	35,558,141 (GRCm39)	missense	possibly damaging	0.79
R1133:Ahr	UTSW	12	35,576,805 (GRCm39)	missense	probably damaging	1.00
R1168:Ahr	UTSW	12	35,554,531 (GRCm39)	missense	possibly damaging	0.49
R4678:Ahr	UTSW	12	35,557,463 (GRCm39)	missense	probably damaging	1.00
R5615:Ahr	UTSW	12	35,553,884 (GRCm39)	missense	probably benign	0.01
R6066:Ahr	UTSW	12	35,554,920 (GRCm39)	missense	probably damaging	0.99
R6466:Ahr	UTSW	12	35,554,031 (GRCm39)	missense	probably benign	0.29
R7369:Ahr	UTSW	12	35,554,659 (GRCm39)	missense	possibly damaging	0.94
R7382:Ahr	UTSW	12	35,554,514 (GRCm39)	missense	probably damaging	1.00
R7685:Ahr	UTSW	12	35,554,016 (GRCm39)	missense	probably damaging	0.96
R7819:Ahr	UTSW	12	35,559,999 (GRCm39)	missense	probably damaging	1.00
R7897:Ahr	UTSW	12	35,554,169 (GRCm39)	missense	possibly damaging	0.47
R7925:Ahr	UTSW	12	35,565,067 (GRCm39)	nonsense	probably null
R8179:Ahr	UTSW	12	35,560,050 (GRCm39)	missense	probably benign	0.01
R8274:Ahr	UTSW	12	35,560,068 (GRCm39)	missense	probably benign
R8342:Ahr	UTSW	12	35,558,271 (GRCm39)	missense	probably damaging	1.00
R8985:Ahr	UTSW	12	35,576,736 (GRCm39)	missense	possibly damaging	0.91
R9114:Ahr	UTSW	12	35,561,164 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTTAACCCAGCATAGCAG -3'
(R):5'- ACAGTTTCCACCTCTAACGC -3'

Sequencing Primer
(F):5'- GCATAGCAGATACTATAGATAGCGC -3'
(R):5'- TCTGCAGGCGCTGAATG -3'

Posted On

2022-11-09