Mutagenetix > Incidental Mutations

Ensembl: ENSMUST00000019400

Incidental Mutation 'R8985:Ahr'

683985

Institutional Source

Beutler Lab

Gene Symbol

Ahr

Ensembl Gene

ENSMUSG00000019256

Gene Name

aryl-hydrocarbon receptor

Synonyms

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

Accession Numbers

Genbank: NM_013464; MGI: 105043;

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35497974-35535038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35526737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 65 (K65R)

Ref Sequence

ENSEMBL: ENSMUSP00000112137 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110811
AA Change: K65R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106434
Gene: ENSMUSG00000019256
AA Change: K65R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116436
AA Change: K65R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: K65R

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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	A	7: 76,320,156	S53R		Het
AI429214	A	T	8: 36,993,666		probably benign	Het
Ankrd52	T	C	10: 128,387,109	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,337	T448A	probably benign	Het
Atp10a	A	G	7: 58,788,344	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399	Y397*	probably null	Het
Ccdc162	A	G	10: 41,556,106	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,059,796	R152*	probably null	Het
Cdc25b	T	C	2: 131,193,260	C313R	probably damaging	Het
Cfap73	T	A	5: 120,630,058	T212S	probably benign	Het
Chd9	G	T	8: 90,994,473	R963L	unknown	Het
Clip4	G	T	17: 71,806,532	V226F	probably damaging	Het
Cmya5	A	G	13: 93,097,156	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,955	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,402,442	H176P	probably damaging	Het
Cspg5	T	C	9: 110,256,434	W558R	unknown	Het
Cyp2c39	A	G	19: 39,563,975	T371A	probably benign	Het
Dcaf8	G	A	1: 172,172,632	R119H	probably benign	Het
Drosha	G	T	15: 12,924,101	A1190S	possibly damaging	Het
Dst	T	C	1: 34,249,805	V5655A	probably benign	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Flnc	T	A	6: 29,440,500	V269D	probably benign	Het
Foxs1	T	A	2: 152,933,138		probably benign	Het
Ftsj3	T	C	11: 106,250,769	Y551C	possibly damaging	Het
Fzd6	A	T	15: 39,031,624	H395L	probably damaging	Het
Grm6	C	T	11: 50,855,710	A289V	possibly damaging	Het
Hook1	A	G	4: 96,022,231	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igha	T	C	12: 113,258,991	E270G		Het
Jade1	A	C	3: 41,613,713	S739R	probably benign	Het
Lpin3	T	C	2: 160,896,754	S209P	probably benign	Het
Ly6i	A	C	15: 74,979,957	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,254,691	V107I	probably benign	Het
Mycbpap	T	A	11: 94,513,896	T74S	probably benign	Het
Nlrp14	A	G	7: 107,197,229	N921D	probably benign	Het
Nmur1	C	T	1: 86,386,381	E388K	probably benign	Het
Nol4	T	C	18: 22,952,237	Y40C	probably damaging	Het
Olfr376	T	C	11: 73,375,426	S229P	possibly damaging	Het
Olfr639	A	T	7: 104,012,160	C181S	probably damaging	Het
Olfr916	A	T	9: 38,658,325	Y22*	probably null	Het
Pawr	G	A	10: 108,412,000	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,430,637	Y814H	probably benign	Het
Pds5b	T	A	5: 150,800,774	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,038,110	T1350A	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Plcz1	T	A	6: 140,016,177	Q216L	possibly damaging	Het
Prodh	A	T	16: 18,072,498	C522S	probably null	Het
Rasef	G	T	4: 73,790,723	P91Q	possibly damaging	Het
Rnase6	A	T	14: 51,130,175	Y8F	unknown	Het
Rnf216	T	A	5: 143,090,425	T235S	probably benign	Het
Slco2a1	G	A	9: 103,072,635		probably null	Het
Smoc1	A	G	12: 81,179,487	E362G	probably damaging	Het
Sncaip	T	C	18: 52,869,097	L230P	probably benign	Het
Tdrd3	A	G	14: 87,506,161	E515G	possibly damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Tmem9	T	A	1: 136,027,407	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,315,324	I217L	probably benign	Het
Ttc41	A	T	10: 86,731,092	I541F	possibly damaging	Het
Uck2	T	C	1: 167,243,112	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,108,035	D254G	probably benign	Het
Vmn2r50	A	C	7: 10,046,047	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,399,835	V830A	probably benign	Het
Wwc2	T	A	8: 47,878,884	R299S	probably benign	Het
Xdh	C	T	17: 73,921,351	G352R	probably damaging	Het
Xkr9	A	T	1: 13,700,766	M169L	probably benign	Het
Zbtb10	A	G	3: 9,280,747	D767G	probably damaging	Het
Zfp106	T	C	2: 120,535,596	Y65C		Het
Zfp536	A	G	7: 37,568,803	L396P	probably damaging	Het
Znhit1	C	A	5: 136,982,554	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,238,835	E351G	probably damaging	Het

Other mutations in Ahr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Ahr	APN	12	35504097	nonsense	probably null
IGL01336:Ahr	APN	12	35503840	missense	probably benign	0.19
IGL01972:Ahr	APN	12	35504449	missense	possibly damaging	0.89
IGL02117:Ahr	APN	12	35512923	nonsense	probably null
IGL03028:Ahr	APN	12	35504710	missense	probably benign
IGL03110:Ahr	APN	12	35504971	missense	probably damaging	0.98
IGL03394:Ahr	APN	12	35503752	nonsense	probably null
IGL03403:Ahr	APN	12	35504326	missense	possibly damaging	0.63
BB002:Ahr	UTSW	12	35515068	nonsense	probably null
BB012:Ahr	UTSW	12	35515068	nonsense	probably null
R0620:Ahr	UTSW	12	35508194	missense	probably benign	0.26
R0784:Ahr	UTSW	12	35508142	missense	possibly damaging	0.79
R1133:Ahr	UTSW	12	35526806	missense	probably damaging	1.00
R1168:Ahr	UTSW	12	35504532	missense	possibly damaging	0.49
R4678:Ahr	UTSW	12	35507464	missense	probably damaging	1.00
R5615:Ahr	UTSW	12	35503885	missense	probably benign	0.01
R6066:Ahr	UTSW	12	35504921	missense	probably damaging	0.99
R6466:Ahr	UTSW	12	35504032	missense	probably benign	0.29
R7369:Ahr	UTSW	12	35504660	missense	possibly damaging	0.94
R7382:Ahr	UTSW	12	35504515	missense	probably damaging	1.00
R7685:Ahr	UTSW	12	35504017	missense	probably damaging	0.96
R7819:Ahr	UTSW	12	35510000	missense	probably damaging	1.00
R7897:Ahr	UTSW	12	35504170	missense	possibly damaging	0.47
R7925:Ahr	UTSW	12	35515068	nonsense	probably null
R8179:Ahr	UTSW	12	35510051	missense	probably benign	0.01
R8274:Ahr	UTSW	12	35510069	missense	probably benign
R8342:Ahr	UTSW	12	35508272	missense	probably damaging	1.00
R9114:Ahr	UTSW	12	35511165	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAACAGCTCCATTGTCC -3'
(R):5'- AGGGGACGTTTTAATGTTAGACAC -3'

Sequencing Primer
(F):5'- TTGTCCATCAATGAAACAGGAAAG -3'
(R):5'- GACACTTTTGCTCTGTTTTCTAAAGG -3'

Posted On

2021-10-11