Incidental Mutation 'R6122:Arnt2'
ID |
485767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arnt2
|
Ensembl Gene |
ENSMUSG00000015709 |
Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
Synonyms |
bHLHe1 |
MMRRC Submission |
044269-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84010773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 34
(K34N)
|
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 damaging
Transcript: ENSMUST00000085077
AA Change: K45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082154 Gene: ENSMUSG00000015709 AA Change: K45N
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: ENSMUST00000207769
AA Change: K45N
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208204
AA Change: A45S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208232
AA Change: K34N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208392
AA Change: K34N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208863
AA Change: K34N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208995
AA Change: K34N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209133
AA Change: K34N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1850 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (57/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
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 |
R0201:Arnt2
|
UTSW |
7 |
84,010,867 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- GAGCACTTAGAAGCAAATCATGTGC -3'
(R):5'- AAGCGAAGTGTCAACCCCTC -3'
Sequencing Primer
(F):5'- TCATGTGCATATTTAGGAATCTTGC -3'
(R):5'- GAAGTGTCAACCCCTCCAGGTC -3'
|
Posted On |
2017-08-16 |