Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Arnt2'

15164

Institutional Source

Beutler Lab

Gene Symbol

Arnt2

Ensembl Gene

ENSMUSG00000015709

Gene Name

aryl hydrocarbon receptor nuclear translocator 2

Synonyms

bHLHe1

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

84246278-84410176 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84284126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 308 (V308A)

Ref Sequence

ENSEMBL: ENSMUSP00000147129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208232] [ENSMUST00000209133]

AlphaFold

Q61324

Predicted Effect

probably benign
Transcript: ENSMUST00000085077
AA Change: V319A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: V319A

Domain	Start	End	E-Value	Type
HLH	69	122	1.42e-14	SMART
PAS	137	204	1.28e-8	SMART
low complexity region	225	236	N/A	INTRINSIC
PAS	325	391	4.15e-8	SMART
PAC	398	441	7.93e-5	SMART
low complexity region	502	526	N/A	INTRINSIC
low complexity region	597	626	N/A	INTRINSIC
low complexity region	653	675	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208232
AA Change: V308A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208936

Predicted Effect

probably benign
Transcript: ENSMUST00000209133
AA Change: V308A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.5851

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,752,436	T2067M	probably damaging	Het
Akip1	T	C	7: 109,704,138	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440	I256T	probably benign	Het
Astn1	G	A	1: 158,684,215	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,599,820		probably benign	Het
Bbx	T	A	16: 50,224,918	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744	L336P	probably benign	Het
Camk2d	A	G	3: 126,797,723	M281V	probably benign	Het
Dll3	A	G	7: 28,300,161		probably benign	Het
Dscam	G	A	16: 96,593,385	R1906*	probably null	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733	M428T	probably benign	Het
Fry	T	G	5: 150,380,803	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939	T473A	probably benign	Het
Krt34	A	T	11: 100,041,037	C119S	probably benign	Het
Krt6a	A	G	15: 101,690,715		probably benign	Het
Lysmd4	A	G	7: 67,226,080	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535		probably benign	Het
Plcb1	A	G	2: 135,362,425	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659		probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253		probably benign	Het
Slc24a2	T	C	4: 87,028,240		probably benign	Het
Slc6a3	A	T	13: 73,540,837		probably benign	Het
St5	T	C	7: 109,524,659	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449		probably null	Het
Ttc27	T	C	17: 74,770,264	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011	V3301A	probably benign	Het

Other mutations in Arnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Arnt2	APN	7	84285829	missense	probably benign	0.01
IGL01525:Arnt2	APN	7	84275408	missense	possibly damaging	0.70
IGL02331:Arnt2	APN	7	84265624	missense	probably damaging	1.00
IGL02483:Arnt2	APN	7	84251397	missense	probably damaging	1.00
IGL02863:Arnt2	APN	7	84267937	missense	probably damaging	1.00
IGL03207:Arnt2	APN	7	84343834	missense	possibly damaging	0.93
Arnold2	UTSW	7	84347530	missense	probably damaging	1.00
porker	UTSW	7	84343942	missense	probably damaging	1.00
R0058:Arnt2	UTSW	7	84347530	missense	probably damaging	1.00
R0058:Arnt2	UTSW	7	84347530	missense	probably damaging	1.00
R0060:Arnt2	UTSW	7	84347530	missense	probably damaging	1.00
R0113:Arnt2	UTSW	7	84347530	missense	probably damaging	1.00
R0114:Arnt2	UTSW	7	84347530	missense	probably damaging	1.00
R0201:Arnt2	UTSW	7	84361659	nonsense	probably null
R0514:Arnt2	UTSW	7	84304859	missense	probably benign	0.00
R0863:Arnt2	UTSW	7	84265584	missense	probably damaging	1.00
R1800:Arnt2	UTSW	7	84275375	missense	probably damaging	1.00
R1944:Arnt2	UTSW	7	84343751	missense	probably benign	0.01
R1964:Arnt2	UTSW	7	84343789	missense	possibly damaging	0.55
R2061:Arnt2	UTSW	7	84343870	missense	probably damaging	1.00
R2216:Arnt2	UTSW	7	84275351	missense	probably damaging	0.99
R3107:Arnt2	UTSW	7	84262444	missense	possibly damaging	0.95
R3410:Arnt2	UTSW	7	84275447	missense	probably damaging	1.00
R3739:Arnt2	UTSW	7	84343801	missense	probably null	1.00
R4258:Arnt2	UTSW	7	84310955	missense	probably damaging	0.98
R4486:Arnt2	UTSW	7	84275345	missense	probably benign	0.03
R4489:Arnt2	UTSW	7	84275345	missense	probably benign	0.03
R4668:Arnt2	UTSW	7	84275386	missense	probably damaging	1.00
R5685:Arnt2	UTSW	7	84263265	missense	probably benign	0.00
R5876:Arnt2	UTSW	7	84347512	missense	probably damaging	1.00
R5923:Arnt2	UTSW	7	84262533	missense	probably benign	0.32
R5926:Arnt2	UTSW	7	84343946	missense	probably damaging	0.99
R6122:Arnt2	UTSW	7	84361565	missense	probably damaging	1.00
R7021:Arnt2	UTSW	7	84343942	missense	probably damaging	1.00
R7895:Arnt2	UTSW	7	84305198	missense	probably benign
R7898:Arnt2	UTSW	7	84268947	splice site	probably null
R8386:Arnt2	UTSW	7	84347539	missense	probably damaging	1.00
R9038:Arnt2	UTSW	7	84304851	missense	probably benign
R9258:Arnt2	UTSW	7	84361590	missense	probably damaging	1.00
R9346:Arnt2	UTSW	7	84282113	missense	probably benign	0.04
R9452:Arnt2	UTSW	7	84284126	missense	probably benign	0.03
R9636:Arnt2	UTSW	7	84343834	missense	probably benign	0.44
R9780:Arnt2	UTSW	7	84305218	missense	probably benign	0.02
X0066:Arnt2	UTSW	7	84285784	missense	possibly damaging	0.93
Z1176:Arnt2	UTSW	7	84263196	missense	probably benign	0.41
Z1177:Arnt2	UTSW	7	84263207	missense	possibly damaging	0.81

Posted On

2012-12-12