Mutagenetix > Incidental Mutation

Incidental Mutation 'R8696:Btbd2'

668715

Institutional Source

Beutler Lab

Gene Symbol

Btbd2

Ensembl Gene

ENSMUSG00000003344

Gene Name

BTB domain containing 2

Synonyms

4930512K17Rik, 2610037C03Rik

MMRRC Submission

068550-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80478457-80492328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80480515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 366 (R366Q)

Ref Sequence

ENSEMBL: ENSMUSP00000003434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003434] [ENSMUST00000079773] [ENSMUST00000085435] [ENSMUST00000126980]

AlphaFold

E9PUS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003434
AA Change: R366Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: R366Q

Domain	Start	End	E-Value	Type
low complexity region	27	68	N/A	INTRINSIC
BTB	115	215	9.96e-25	SMART
BACK	220	328	6.36e-13	SMART
Pfam:PHR	373	522	7.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079773

SMART Domains

Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Pkinase	126	329	2e-19	PFAM
Pfam:Pkinase_Tyr	128	329	6.2e-10	PFAM
Pfam:CK1gamma_C	382	412	4e-11	PFAM
low complexity region	425	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085435

SMART Domains

Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Pkinase_Tyr	46	308	1.3e-14	PFAM
Pfam:Pkinase	46	313	7.6e-35	PFAM
Pfam:CK1gamma_C	354	385	1.2e-11	PFAM
low complexity region	398	409	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126980
AA Change: R351Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: R351Q

Domain	Start	End	E-Value	Type
low complexity region	12	53	N/A	INTRINSIC
BTB	100	200	9.96e-25	SMART
BACK	205	313	6.36e-13	SMART
Pfam:PHR	358	508	4.3e-54	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: R241Q

Domain	Start	End	E-Value	Type
BTB	2	85	4.38e-12	SMART
BACK	90	199	1.21e-13	SMART
PDB:3NO8\|B	234	256	1e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000220163

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,687,235 (GRCm39)	N423S	probably benign	Het
Adgrl4	T	C	3: 151,248,344 (GRCm39)	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,369,067 (GRCm39)	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,014,864 (GRCm39)	I84V	probably benign	Het
Arhgap32	A	G	9: 32,159,799 (GRCm39)	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,110,090 (GRCm39)	S144P	probably damaging	Het
Bicd1	A	G	6: 149,415,285 (GRCm39)	D666G	probably damaging	Het
Blk	A	T	14: 63,618,149 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,266,175 (GRCm39)	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,653,614 (GRCm39)	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,234,505 (GRCm39)	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,732,779 (GRCm39)	V539A	unknown	Het
Ceacam3	A	T	7: 16,893,937 (GRCm39)	N483Y		Het
Cenpf	C	T	1: 189,390,194 (GRCm39)	A1213T	probably benign	Het
Chrna6	G	T	8: 27,897,195 (GRCm39)	Y227*	probably null	Het
Cntnap5c	A	T	17: 58,601,294 (GRCm39)	D814V	probably damaging	Het
Csl	A	T	10: 99,594,826 (GRCm39)	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,685,521 (GRCm39)	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dhx8	T	C	11: 101,623,958 (GRCm39)	V31A	unknown	Het
Dis3l2	G	T	1: 86,719,162 (GRCm39)	G131*	probably null	Het
Dkk1	G	A	19: 30,526,688 (GRCm39)	A31V	probably damaging	Het
Dlx3	C	T	11: 95,012,596 (GRCm39)	R130*	probably null	Het
Dnajc24	T	C	2: 105,832,315 (GRCm39)	M23V	probably benign	Het
Dnmbp	T	A	19: 43,862,662 (GRCm39)	N76I	probably damaging	Het
Ezh1	T	C	11: 101,100,305 (GRCm39)	N226S	probably benign	Het
Fabp9	C	T	3: 10,259,047 (GRCm39)	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,739,648 (GRCm39)	C85R	probably damaging	Het
Gnai2	A	C	9: 107,496,968 (GRCm39)	L131R		Het
Gprin1	A	G	13: 54,885,764 (GRCm39)	W837R	probably damaging	Het
Grm3	C	T	5: 9,562,311 (GRCm39)	C513Y	probably damaging	Het
H60c	T	A	10: 3,210,265 (GRCm39)	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,531,743 (GRCm39)	V177A	possibly damaging	Het
Herc6	T	A	6: 57,624,134 (GRCm39)	C635S	probably benign	Het
Itga4	A	T	2: 79,112,125 (GRCm39)	M347L	probably benign	Het
Kif20b	A	G	19: 34,914,752 (GRCm39)	H436R	probably benign	Het
Klrg2	G	T	6: 38,613,430 (GRCm39)	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,618,742 (GRCm39)	Y340H	probably damaging	Het
Map9	T	A	3: 82,270,668 (GRCm39)	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,356,557 (GRCm39)	T221A	probably benign	Het
Myo10	C	G	15: 25,799,572 (GRCm39)	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,807,513 (GRCm39)	T290A	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Notch1	T	A	2: 26,368,004 (GRCm39)		probably benign	Het
Nr1d2	A	T	14: 18,216,661 (GRCm38)	M169K	probably damaging	Het
Or10ak8	C	T	4: 118,774,635 (GRCm39)	V10I	probably benign	Het
Or11g1	A	G	14: 50,651,420 (GRCm39)	M140V	possibly damaging	Het
Or13c7c	A	G	4: 43,836,193 (GRCm39)	V99A	probably benign	Het
Or6c69b	A	T	10: 129,626,562 (GRCm39)	F299I	possibly damaging	Het
Or8b41	A	G	9: 38,054,433 (GRCm39)	M1V	probably null	Het
Pdia6	T	A	12: 17,329,662 (GRCm39)	I266K	probably damaging	Het
Phactr4	T	C	4: 132,091,105 (GRCm39)		probably null	Het
Polr1b	T	A	2: 128,967,571 (GRCm39)	L988Q	probably damaging	Het
Por	A	T	5: 135,763,112 (GRCm39)	M541L	probably benign	Het
Ppid	T	C	3: 79,498,689 (GRCm39)		probably benign	Het
Prp2	A	T	6: 132,577,322 (GRCm39)	Q203L	unknown	Het
Psme4	T	G	11: 30,759,896 (GRCm39)	F340V	probably damaging	Het
Ptges2	T	C	2: 32,290,077 (GRCm39)	S164P	probably damaging	Het
Rab18	G	A	18: 6,788,635 (GRCm39)	G201S	probably damaging	Het
Rbm19	A	G	5: 120,265,132 (GRCm39)	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,404,305 (GRCm39)	V259G	probably damaging	Het
Rpn1	C	A	6: 88,080,359 (GRCm39)	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,609,459 (GRCm39)	S697P	probably damaging	Het
Sdad1	T	G	5: 92,437,645 (GRCm39)	H603P	probably damaging	Het
Serpini1	T	C	3: 75,520,544 (GRCm39)	L47P	probably damaging	Het
Sorbs2	T	A	8: 46,248,686 (GRCm39)	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,210,754 (GRCm39)	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181 (GRCm39)	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,531,595 (GRCm39)	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,344 (GRCm39)	T239K	probably damaging	Het
Tlr1	A	G	5: 65,084,094 (GRCm39)	L161P	probably benign	Het
Ttc21a	T	G	9: 119,772,977 (GRCm39)	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,784,492 (GRCm39)	S1854P	probably benign	Het
Unc93a	A	G	17: 13,341,852 (GRCm39)	L93P	probably damaging	Het
Vcan	A	T	13: 89,839,217 (GRCm39)	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,723,419 (GRCm39)	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,847,321 (GRCm39)	F55S	probably damaging	Het
Zfp772	T	C	7: 7,208,518 (GRCm39)	T109A	possibly damaging	Het
Zfp87	A	G	13: 74,520,599 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Btbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
brachio	UTSW	10	80,481,365 (GRCm39)	missense	probably damaging	1.00
R0245:Btbd2	UTSW	10	80,483,640 (GRCm39)	missense	probably damaging	1.00
R1794:Btbd2	UTSW	10	80,479,747 (GRCm39)	missense	probably damaging	1.00
R1960:Btbd2	UTSW	10	80,480,539 (GRCm39)	missense	probably benign	0.06
R4827:Btbd2	UTSW	10	80,482,223 (GRCm39)	missense	probably damaging	1.00
R5197:Btbd2	UTSW	10	80,482,253 (GRCm39)	missense	probably damaging	0.98
R5372:Btbd2	UTSW	10	80,484,475 (GRCm39)	missense	probably damaging	0.99
R6108:Btbd2	UTSW	10	80,481,365 (GRCm39)	missense	probably damaging	1.00
R6316:Btbd2	UTSW	10	80,480,612 (GRCm39)	missense	probably damaging	0.98
R6355:Btbd2	UTSW	10	80,481,183 (GRCm39)	missense	possibly damaging	0.81
R6872:Btbd2	UTSW	10	80,480,166 (GRCm39)	missense	probably damaging	0.99
R7016:Btbd2	UTSW	10	80,484,449 (GRCm39)	missense	probably damaging	1.00
R7300:Btbd2	UTSW	10	80,480,100 (GRCm39)	missense	probably damaging	1.00
R7524:Btbd2	UTSW	10	80,482,278 (GRCm39)	missense	probably damaging	0.97
R7617:Btbd2	UTSW	10	80,482,226 (GRCm39)	missense	probably damaging	1.00
R7756:Btbd2	UTSW	10	80,484,440 (GRCm39)	missense	probably benign	0.05
R7762:Btbd2	UTSW	10	80,479,390 (GRCm39)	missense	probably damaging	1.00
R9321:Btbd2	UTSW	10	80,483,675 (GRCm39)	missense	probably damaging	0.99
R9484:Btbd2	UTSW	10	80,480,103 (GRCm39)	missense	probably benign	0.01
R9655:Btbd2	UTSW	10	80,492,045 (GRCm39)	missense	probably benign	0.40
R9784:Btbd2	UTSW	10	80,484,481 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTAACGCATGCGCAGTTC -3'
(R):5'- ATGAGATACCCCACCCTGAG -3'

Sequencing Primer
(F):5'- CAGTTCCTGCTGCCCAC -3'
(R):5'- TGAGGCCAGGTCCTGAGTC -3'

Posted On

2021-04-30