Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Bmal2'

21639

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

038416-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R0131 (G1)

Quality Score

116

Status

Validated (trace)

Chromosome

Chromosomal Location

146697553-146735027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146729601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 471 (H471N)

Ref Sequence

ENSEMBL: ENSMUSP00000107266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080530] [ENSMUST00000111636] [ENSMUST00000111638] [ENSMUST00000111639] [ENSMUST00000129788]

AlphaFold

Q2VPD4

Predicted Effect

probably benign
Transcript: ENSMUST00000080530
AA Change: H471N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079373
Gene: ENSMUSG00000040187
AA Change: H471N

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 benign
Transcript: ENSMUST00000111636
AA Change: H471N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107263
Gene: ENSMUSG00000040187
AA Change: H471N

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 benign
Transcript: ENSMUST00000111638
AA Change: H461N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107265
Gene: ENSMUSG00000040187
AA Change: H461N

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 benign
Transcript: ENSMUST00000111639
AA Change: H471N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107266
Gene: ENSMUSG00000040187
AA Change: H471N

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 benign
Transcript: ENSMUST00000129788

SMART Domains

Protein: ENSMUSP00000121170
Gene: ENSMUSG00000040187

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204578

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gbe1	T	C	16: 70,157,740 (GRCm39)		probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Wrnip1	G	A	13: 32,990,847 (GRCm39)	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
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
R6722:Bmal2	UTSW	6	146,720,398 (GRCm39)	missense	probably damaging	0.99
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'- GTGTCAATGCATCCACAGCTTGC -3'
(R):5'- ACCATGTCTCCTGTAACCACTGACC -3'

Sequencing Primer
(F):5'- gtgtgtgtcagtgcatgaac -3'
(R):5'- GACCTATACCTCCCCTTAAGATG -3'

Posted On

2013-04-11