Mutagenetix > Incidental Mutations

Incidental Mutation 'R1964:Arnt2'

217098

Institutional Source

Beutler Lab

Gene Symbol

Arnt2

Ensembl Gene

ENSMUSG00000015709

Gene Name

aryl hydrocarbon receptor nuclear translocator 2

Synonyms

bHLHe1

MMRRC Submission

039977-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1964 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84246278-84410176 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84343789 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 181 (V181E)

Ref Sequence

ENSEMBL: ENSMUSP00000147129 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085077
AA Change: V192E

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: V192E

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

noncoding transcript
Transcript: ENSMUST00000207512

Predicted Effect

probably benign
Transcript: ENSMUST00000207769

Predicted Effect

probably benign
Transcript: ENSMUST00000208204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208232
AA Change: V181E

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000208392

Predicted Effect

probably benign
Transcript: ENSMUST00000208863

Predicted Effect

probably benign
Transcript: ENSMUST00000208995
AA Change: V181E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209133
AA Change: V181E

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 8,992,492	H158Y	probably damaging	Het
1810009J06Rik	T	A	6: 40,968,207	C207S	probably damaging	Het
Aadac	T	A	3: 60,037,338		probably null	Het
Abca6	T	A	11: 110,184,676	I1330F	probably damaging	Het
Adar	A	T	3: 89,745,895	S263C	probably benign	Het
Adra2b	T	C	2: 127,363,814	Y84H	probably damaging	Het
Atg7	T	C	6: 114,706,230	L418P	probably damaging	Het
Atp2c1	A	G	9: 105,446,123	L181P	probably damaging	Het
Awat2	G	A	X: 100,404,559	P148S	probably damaging	Het
Birc6	A	G	17: 74,634,885	M2737V	possibly damaging	Het
Ccdc81	A	G	7: 89,886,153	C292R	probably benign	Het
Cd14	T	A	18: 36,726,339	E21V	probably damaging	Het
Cdc14b	A	C	13: 64,215,537	C303W	probably damaging	Het
Cdh23	T	C	10: 60,385,222	I1248V	probably benign	Het
Ceacam1	T	C	7: 25,474,708	D174G	probably benign	Het
Chd7	A	G	4: 8,865,978	M717V	probably damaging	Het
Cib1	T	C	7: 80,232,372	T20A	possibly damaging	Het
Clec4d	A	G	6: 123,262,360	K9R	probably benign	Het
Cntnap1	C	A	11: 101,178,024	S131*	probably null	Het
Crybg1	T	C	10: 43,958,330	K1581R	probably damaging	Het
Csf2	T	G	11: 54,248,458	T100P	probably benign	Het
Csrp2	T	A	10: 110,932,033	D26E	probably benign	Het
Cul1	T	C	6: 47,502,571	V257A	probably damaging	Het
Cul4a	G	A	8: 13,136,406	M505I	possibly damaging	Het
Cul4a	T	C	8: 13,136,854	M530T	probably benign	Het
Dcp2	T	C	18: 44,395,971	M51T	possibly damaging	Het
Ddx60	T	A	8: 61,948,869	C260S	probably benign	Het
Dennd2c	G	A	3: 103,166,491	R851H	probably damaging	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Edem1	T	C	6: 108,844,947	W322R	probably benign	Het
Egflam	T	C	15: 7,247,105	T527A	probably damaging	Het
Ephb1	T	A	9: 101,971,123	M659L	possibly damaging	Het
Fbxl2	A	G	9: 113,989,169	I203T	probably benign	Het
Gabbr1	G	A	17: 37,048,459	G109R	probably damaging	Het
Gabra2	T	C	5: 71,014,450	I148V	possibly damaging	Het
Golga1	A	G	2: 39,047,087	V161A	probably benign	Het
Gps2	T	G	11: 69,916,420	S301A	probably benign	Het
H2-D1	T	C	17: 35,263,619	L105P	probably benign	Het
Igdcc4	T	C	9: 65,122,769	V367A	probably benign	Het
Igkv4-69	T	G	6: 69,283,798	Y115S	probably benign	Het
Itga5	A	G	15: 103,354,314	L309P	probably damaging	Het
Itih1	A	G	14: 30,929,623	Y871H	probably damaging	Het
Itpr2	T	A	6: 146,111,693	N2662I	probably damaging	Het
Kctd19	T	A	8: 105,388,470	E486D	probably damaging	Het
Kif5b	C	T	18: 6,209,059	R901Q	possibly damaging	Het
Kmt2a	G	A	9: 44,820,644	S2792F	probably benign	Het
Magi3	A	G	3: 104,020,402	V1023A	probably damaging	Het
Mapk9	C	A	11: 49,854,333	R25S	probably null	Het
Mb21d1	T	G	9: 78,437,455	Y228S	probably damaging	Het
Memo1	T	C	17: 74,245,008	T98A	possibly damaging	Het
Mill2	A	G	7: 18,856,604	K203R	probably damaging	Het
Mios	T	A	6: 8,215,798	H331Q	probably damaging	Het
Muc6	G	T	7: 141,640,062	S1566*	probably null	Het
Muc6	A	G	7: 141,640,063		probably benign	Het
Napsa	T	C	7: 44,581,685	F113L	probably benign	Het
Olfr1154	A	G	2: 87,903,667	V3A	probably benign	Het
Olfr198	T	A	16: 59,201,908	I173F	possibly damaging	Het
Oscp1	T	G	4: 126,083,622	V226G	possibly damaging	Het
Osgin2	G	T	4: 15,998,358	S421R	probably damaging	Het
Pclaf	A	G	9: 65,893,395	N50D	probably damaging	Het
Pdgfc	A	T	3: 81,174,985	I162F	probably benign	Het
Plag1	T	C	4: 3,903,956	T412A	probably benign	Het
Pogz	A	T	3: 94,878,193	T820S	probably benign	Het
Ptpn9	T	A	9: 57,059,912	V473D	probably damaging	Het
Qdpr	A	T	5: 45,439,318	M66K	possibly damaging	Het
Qrich1	A	G	9: 108,534,422	N382S	possibly damaging	Het
Rbbp8	T	C	18: 11,742,679	V883A	possibly damaging	Het
Rgl1	T	A	1: 152,549,104	I375F	probably damaging	Het
Rif1	C	T	2: 52,098,409	T720I	probably benign	Het
Rilp	A	T	11: 75,510,502	Q95L	probably benign	Het
Rnf169	T	A	7: 99,925,525	N621I	probably damaging	Het
Rps27a	T	C	11: 29,547,229	K27R	probably null	Het
Sar1a	T	C	10: 61,685,168	V54A	probably benign	Het
Sash1	T	A	10: 8,729,713	H971L	probably benign	Het
Sdk2	G	A	11: 113,781,017	Q2102*	probably null	Het
Serpina1e	T	A	12: 103,951,207	I68F	probably damaging	Het
Serpinb9e	A	C	13: 33,253,491	Q119P	probably benign	Het
Sh3tc2	A	T	18: 61,991,155	K965*	probably null	Het
Slc16a1	A	T	3: 104,649,466	S56C	probably damaging	Het
Slc26a11	T	A	11: 119,380,194	L563Q	possibly damaging	Het
Smarca2	G	T	19: 26,672,724	E24*	probably null	Het
Smgc	G	A	15: 91,860,270	G239D	probably damaging	Het
Sos2	A	T	12: 69,616,862	M616K	possibly damaging	Het
Tet1	T	A	10: 62,812,947	D1902V	possibly damaging	Het
Thap2	C	T	10: 115,384,247	C10Y	probably damaging	Het
Tln2	T	C	9: 67,342,135	D890G	probably benign	Het
Tor2a	G	A	2: 32,758,704	G62D	probably damaging	Het
Ubqln5	A	T	7: 104,128,888	V243E	possibly damaging	Het
Utrn	A	T	10: 12,684,437	D1369E	probably damaging	Het
Vcan	A	G	13: 89,692,742	V1561A	probably benign	Het
Vmn1r70	T	C	7: 10,633,810	F56S	possibly damaging	Het
Vmn2r25	A	G	6: 123,823,295	L696S	possibly damaging	Het
Washc2	A	G	6: 116,208,987	T53A	probably damaging	Het
Wnk1	T	A	6: 119,934,382	T2417S	possibly damaging	Het
Zbtb49	A	T	5: 38,203,761	C12*	probably null	Het
Zfp472	C	A	17: 32,977,874	P308T	possibly damaging	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
R0024:Arnt2	UTSW	7	84284126	missense	probably benign	0.03
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGCTTCCAAATGTGTTTACTGG -3'
(R):5'- GTCTGTTAGGACCCTTGCTG -3'

Sequencing Primer
(F):5'- GAAATCACTCTGTTGACCAGGCTG -3'
(R):5'- GTTAGGACCCTTGCTGACCAC -3'

Posted On

2014-08-01