Incidental Mutation 'R6722:Bmal2'
| ID |
529632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmal2
|
| Ensembl Gene |
ENSMUSG00000040187 |
| Gene Name |
basic helix-loop-helix ARNT like 2 |
| Synonyms |
bHLHe6, MOP9, 4632430A05Rik, Arntl2 |
| MMRRC Submission |
044840-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R6722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
146697553-146735027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146720398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 187
(D187E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080530]
[ENSMUST00000111636]
[ENSMUST00000111638]
[ENSMUST00000111639]
[ENSMUST00000129788]
|
| AlphaFold |
Q2VPD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080530
AA Change: D187E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079373
Gene: ENSMUSG00000040187
AA Change: D187E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
54 |
107 |
6.51e-14 |
SMART |
|
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
PAS
|
298 |
364 |
2.7e-7 |
SMART |
|
PAC
|
371 |
414 |
1.72e0 |
SMART |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111636
AA Change: D187E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107263
Gene: ENSMUSG00000040187
AA Change: D187E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
54 |
107 |
6.51e-14 |
SMART |
|
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
PAS
|
298 |
364 |
2.7e-7 |
SMART |
|
PAC
|
371 |
414 |
1.72e0 |
SMART |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111638
AA Change: D187E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107265
Gene: ENSMUSG00000040187
AA Change: D187E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
54 |
107 |
6.51e-14 |
SMART |
|
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
PAS
|
298 |
364 |
1.29e-4 |
SMART |
|
PAC
|
361 |
404 |
3.66e0 |
SMART |
|
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111639
AA Change: D187E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107266
Gene: ENSMUSG00000040187
AA Change: D187E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
54 |
107 |
6.51e-14 |
SMART |
|
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
PAS
|
298 |
364 |
2.7e-7 |
SMART |
|
PAC
|
371 |
414 |
1.72e0 |
SMART |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129788
AA Change: D187E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121170
Gene: ENSMUSG00000040187
AA Change: D187E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
54 |
107 |
6.51e-14 |
SMART |
|
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203818
|
| Meta Mutation Damage Score |
0.1973 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (Per, Arnt, Sim) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian Clock protein, the structurally related Mop4, and hypoxia-inducible factors, such as Hif1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
| Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
| Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
| Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
| Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
| Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
| Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
| Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
| Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
| Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
| Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
| Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
| Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
| Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
| Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
| Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bmal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Bmal2
|
APN |
6 |
146,728,827 (GRCm39) |
splice site |
probably benign |
|
|
IGL00481:Bmal2
|
APN |
6 |
146,711,164 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02141:Bmal2
|
APN |
6 |
146,729,593 (GRCm39) |
splice site |
probably benign |
|
|
IGL02402:Bmal2
|
APN |
6 |
146,711,266 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0054:Bmal2
|
UTSW |
6 |
146,731,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Bmal2
|
UTSW |
6 |
146,731,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0131:Bmal2
|
UTSW |
6 |
146,729,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0403:Bmal2
|
UTSW |
6 |
146,724,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0716:Bmal2
|
UTSW |
6 |
146,731,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0799:Bmal2
|
UTSW |
6 |
146,724,751 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Bmal2
|
UTSW |
6 |
146,724,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Bmal2
|
UTSW |
6 |
146,712,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2270:Bmal2
|
UTSW |
6 |
146,723,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Bmal2
|
UTSW |
6 |
146,723,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Bmal2
|
UTSW |
6 |
146,724,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4370:Bmal2
|
UTSW |
6 |
146,711,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Bmal2
|
UTSW |
6 |
146,724,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5894:Bmal2
|
UTSW |
6 |
146,724,732 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5972:Bmal2
|
UTSW |
6 |
146,711,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6090:Bmal2
|
UTSW |
6 |
146,731,194 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6111:Bmal2
|
UTSW |
6 |
146,722,097 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6279:Bmal2
|
UTSW |
6 |
146,723,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Bmal2
|
UTSW |
6 |
146,723,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Bmal2
|
UTSW |
6 |
146,724,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7296:Bmal2
|
UTSW |
6 |
146,723,632 (GRCm39) |
missense |
not run |
|
|
R7335:Bmal2
|
UTSW |
6 |
146,711,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7481:Bmal2
|
UTSW |
6 |
146,720,369 (GRCm39) |
missense |
not run |
|
|
R7655:Bmal2
|
UTSW |
6 |
146,707,940 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7656:Bmal2
|
UTSW |
6 |
146,707,940 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7951:Bmal2
|
UTSW |
6 |
146,714,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Bmal2
|
UTSW |
6 |
146,722,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Bmal2
|
UTSW |
6 |
146,723,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8959:Bmal2
|
UTSW |
6 |
146,722,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Bmal2
|
UTSW |
6 |
146,734,033 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGGGAGAATCAATCTTTAACAAGG -3'
(R):5'- ATGTCTGTAGGGTAAAGGAATTTTC -3'
Sequencing Primer
(F):5'- GGCTAGCTTGATAGGACA -3'
(R):5'- AAACTTGTAATCAGCCAGTTCCCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation