Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Arnt2'

23638

Institutional Source

Beutler Lab

Gene Symbol

Arnt2

Ensembl Gene

ENSMUSG00000015709

Gene Name

aryl hydrocarbon receptor nuclear translocator 2

Synonyms

bHLHe1

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83895486-84059201 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 84010867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 3 (S3*)

Ref Sequence

ENSEMBL: ENSMUSP00000147129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000207769] [ENSMUST00000208204] [ENSMUST00000208232] [ENSMUST00000208392] [ENSMUST00000208863] [ENSMUST00000208995] [ENSMUST00000209133]

AlphaFold

Q61324

Predicted Effect

probably null
Transcript: ENSMUST00000085077
AA Change: S14*

SMART Domains

Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: S14*

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 null
Transcript: ENSMUST00000207769
AA Change: S14*

Predicted Effect

silent
Transcript: ENSMUST00000208204

Predicted Effect

probably null
Transcript: ENSMUST00000208232
AA Change: S3*

Predicted Effect

probably null
Transcript: ENSMUST00000208392
AA Change: S3*

Predicted Effect

probably null
Transcript: ENSMUST00000208863
AA Change: S3*

Predicted Effect

probably null
Transcript: ENSMUST00000208995
AA Change: S3*

Predicted Effect

probably null
Transcript: ENSMUST00000209133
AA Change: S3*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 88,198,741 (GRCm39)	T43K	probably benign	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mcu	A	G	10: 59,292,499 (GRCm39)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Papln	A	G	12: 83,829,801 (GRCm39)		probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,647,649 (GRCm39)	R427*	probably null	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,060,977 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het

Other mutations in Arnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Arnt2	APN	7	83,935,037 (GRCm39)	missense	probably benign	0.01
IGL01525:Arnt2	APN	7	83,924,616 (GRCm39)	missense	possibly damaging	0.70
IGL02331:Arnt2	APN	7	83,914,832 (GRCm39)	missense	probably damaging	1.00
IGL02483:Arnt2	APN	7	83,900,605 (GRCm39)	missense	probably damaging	1.00
IGL02863:Arnt2	APN	7	83,917,145 (GRCm39)	missense	probably damaging	1.00
IGL03207:Arnt2	APN	7	83,993,042 (GRCm39)	missense	possibly damaging	0.93
Arnold2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
porker	UTSW	7	83,993,150 (GRCm39)	missense	probably damaging	1.00
R0024:Arnt2	UTSW	7	83,933,334 (GRCm39)	missense	probably benign	0.03
R0058:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0058:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0060:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0113:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0114:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0514:Arnt2	UTSW	7	83,954,067 (GRCm39)	missense	probably benign	0.00
R0863:Arnt2	UTSW	7	83,914,792 (GRCm39)	missense	probably damaging	1.00
R1800:Arnt2	UTSW	7	83,924,583 (GRCm39)	missense	probably damaging	1.00
R1944:Arnt2	UTSW	7	83,992,959 (GRCm39)	missense	probably benign	0.01
R1964:Arnt2	UTSW	7	83,992,997 (GRCm39)	missense	possibly damaging	0.55
R2061:Arnt2	UTSW	7	83,993,078 (GRCm39)	missense	probably damaging	1.00
R2216:Arnt2	UTSW	7	83,924,559 (GRCm39)	missense	probably damaging	0.99
R3107:Arnt2	UTSW	7	83,911,652 (GRCm39)	missense	possibly damaging	0.95
R3410:Arnt2	UTSW	7	83,924,655 (GRCm39)	missense	probably damaging	1.00
R3739:Arnt2	UTSW	7	83,993,009 (GRCm39)	missense	probably null	1.00
R4258:Arnt2	UTSW	7	83,960,163 (GRCm39)	missense	probably damaging	0.98
R4486:Arnt2	UTSW	7	83,924,553 (GRCm39)	missense	probably benign	0.03
R4489:Arnt2	UTSW	7	83,924,553 (GRCm39)	missense	probably benign	0.03
R4668:Arnt2	UTSW	7	83,924,594 (GRCm39)	missense	probably damaging	1.00
R5685:Arnt2	UTSW	7	83,912,473 (GRCm39)	missense	probably benign	0.00
R5876:Arnt2	UTSW	7	83,996,720 (GRCm39)	missense	probably damaging	1.00
R5923:Arnt2	UTSW	7	83,911,741 (GRCm39)	missense	probably benign	0.32
R5926:Arnt2	UTSW	7	83,993,154 (GRCm39)	missense	probably damaging	0.99
R6122:Arnt2	UTSW	7	84,010,773 (GRCm39)	missense	probably damaging	1.00
R7021:Arnt2	UTSW	7	83,993,150 (GRCm39)	missense	probably damaging	1.00
R7895:Arnt2	UTSW	7	83,954,406 (GRCm39)	missense	probably benign
R7898:Arnt2	UTSW	7	83,918,155 (GRCm39)	splice site	probably null
R8386:Arnt2	UTSW	7	83,996,747 (GRCm39)	missense	probably damaging	1.00
R9038:Arnt2	UTSW	7	83,954,059 (GRCm39)	missense	probably benign
R9258:Arnt2	UTSW	7	84,010,798 (GRCm39)	missense	probably damaging	1.00
R9346:Arnt2	UTSW	7	83,931,321 (GRCm39)	missense	probably benign	0.04
R9452:Arnt2	UTSW	7	83,933,334 (GRCm39)	missense	probably benign	0.03
R9636:Arnt2	UTSW	7	83,993,042 (GRCm39)	missense	probably benign	0.44
R9780:Arnt2	UTSW	7	83,954,426 (GRCm39)	missense	probably benign	0.02
X0066:Arnt2	UTSW	7	83,934,992 (GRCm39)	missense	possibly damaging	0.93
Z1176:Arnt2	UTSW	7	83,912,404 (GRCm39)	missense	probably benign	0.41
Z1177:Arnt2	UTSW	7	83,912,415 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGGCAGTTTTAGAGTGGACTCCTCC -3'
(R):5'- TAAGCGAAGTGTCAACCCCTCCAG -3'

Sequencing Primer
(F):5'- AGAGTGGACTCCTCCCTTCAG -3'
(R):5'- CAGGTCCTTGGGTTGCCTC -3'

Posted On

2013-04-16