Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Btbd2'

597950

Institutional Source

Beutler Lab

Gene Symbol

Btbd2

Ensembl Gene

ENSMUSG00000003344

Gene Name

BTB domain containing 2

Synonyms

4930512K17Rik, 2610037C03Rik

MMRRC Submission

045818-MU

Accession Numbers

Essential gene?

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

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80478457-80492328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80479390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 516 (I516F)

Ref Sequence

ENSEMBL: ENSMUSP00000003434 (fasta)

Gene Model

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

AlphaFold

E9PUS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000003434
AA Change: I516F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: I516F

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

probably damaging
Transcript: ENSMUST00000126980
AA Change: I501F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: I501F

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

probably benign
Transcript: ENSMUST00000131876

SMART Domains

Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344

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: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	G	14: 103,288,776 (GRCm39)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,429,209 (GRCm39)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,742,114 (GRCm39)	S653T	probably benign	Het
Aoc1l2	G	A	6: 48,909,620 (GRCm39)	V622I	probably benign	Het
Aox1	C	T	1: 58,388,263 (GRCm39)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,928,882 (GRCm39)		probably null	Het
Atp4a	T	C	7: 30,419,461 (GRCm39)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Card6	A	G	15: 5,134,820 (GRCm39)	S128P	probably benign	Het
Cat	T	C	2: 103,287,203 (GRCm39)	K476E	probably benign	Het
Ccr9	A	T	9: 123,609,022 (GRCm39)	T235S	probably benign	Het
Cep55	T	G	19: 38,057,517 (GRCm39)		probably null	Het
Clec2e	A	G	6: 129,072,091 (GRCm39)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,074,498 (GRCm39)	V53I	probably benign	Het
Clnk	T	C	5: 38,925,484 (GRCm39)	M106V	probably benign	Het
Col6a5	T	C	9: 105,808,523 (GRCm39)	I842V	unknown	Het
Csf1r	A	T	18: 61,243,572 (GRCm39)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,770,725 (GRCm39)	N116K		Het
Dnaja4	A	G	9: 54,616,494 (GRCm39)	I166V	probably benign	Het
Dqx1	A	G	6: 83,038,013 (GRCm39)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm39)	T1760A	probably benign	Het
Eea1	T	C	10: 95,864,301 (GRCm39)	V940A	probably benign	Het
Egr1	T	A	18: 34,996,598 (GRCm39)	V460E	probably damaging	Het
Eral1	A	G	11: 77,965,359 (GRCm39)	I352T	possibly damaging	Het
F2	T	C	2: 91,459,041 (GRCm39)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,399,714 (GRCm39)	V463A	possibly damaging	Het
Fat1	T	A	8: 45,490,374 (GRCm39)	L3762H	probably damaging	Het
Fat1	T	C	8: 45,476,359 (GRCm39)	S1802P	probably damaging	Het
Fibp	A	T	19: 5,514,202 (GRCm39)	N296Y	probably benign	Het
Figla	A	G	6: 85,994,308 (GRCm39)	M28V	probably benign	Het
Foxd3	C	A	4: 99,545,362 (GRCm39)	Y167*	probably null	Het
Gm17019	T	A	5: 15,081,006 (GRCm39)	H145L	probably benign	Het
Gm48552	C	T	10: 81,226,269 (GRCm39)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,647,077 (GRCm39)	N283S	probably benign	Het
Hrh2	T	A	13: 54,368,058 (GRCm39)	C11*	probably null	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Iapp	C	A	6: 142,249,122 (GRCm39)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,258,184 (GRCm39)	N837S	probably benign	Het
Klhl35	C	A	7: 99,117,647 (GRCm39)	H64N	probably benign	Het
Lcor	T	C	19: 41,572,106 (GRCm39)	L287S	probably benign	Het
Lrba	T	A	3: 86,439,508 (GRCm39)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm39)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,315,058 (GRCm39)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,932,977 (GRCm39)	T403I	unknown	Het
Nbea	A	T	3: 55,557,126 (GRCm39)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,663,630 (GRCm39)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,065,243 (GRCm39)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,480,167 (GRCm39)	C460S	probably benign	Het
Or1j19	A	T	2: 36,677,022 (GRCm39)	I162F	probably benign	Het
Or1s2	A	T	19: 13,758,650 (GRCm39)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,378,566 (GRCm39)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,455,588 (GRCm39)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,126,975 (GRCm39)	K77*	probably null	Het
Or6c33	A	G	10: 129,853,050 (GRCm39)		probably benign	Het
Or8d1b	G	A	9: 38,887,490 (GRCm39)	V173I	probably benign	Het
Orai3	G	A	7: 127,372,743 (GRCm39)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,568,977 (GRCm39)	V41G	probably damaging	Het
Plec	A	T	15: 76,067,823 (GRCm39)	L1194Q	unknown	Het
Pml	C	A	9: 58,127,456 (GRCm39)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,619,473 (GRCm39)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,415,906 (GRCm39)	T473N	probably benign	Het
Sbno1	T	A	5: 124,512,729 (GRCm39)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,610,113 (GRCm39)	D269N	probably damaging	Het
Serpina9	A	T	12: 103,967,575 (GRCm39)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,116,898 (GRCm39)	Y319F	probably benign	Het
Sgo2b	A	T	8: 64,379,531 (GRCm39)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,236,754 (GRCm39)		probably null	Het
Shh	T	G	5: 28,671,664 (GRCm39)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,747,371 (GRCm39)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,190,864 (GRCm39)		probably null	Het
Tbx2	A	G	11: 85,726,727 (GRCm39)	E257G	probably damaging	Het
Tenm2	G	A	11: 35,914,133 (GRCm39)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 51,018,575 (GRCm39)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,631,760 (GRCm39)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,975,411 (GRCm39)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,145,048 (GRCm39)	K711N	probably benign	Het
Vcan	G	T	13: 89,841,056 (GRCm39)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,371,845 (GRCm39)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,211,720 (GRCm39)		probably null	Het
Vwa3b	A	C	1: 37,163,126 (GRCm39)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,953,254 (GRCm39)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,315,409 (GRCm39)	F1356I	probably benign	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
R8696:Btbd2	UTSW	10	80,480,515 (GRCm39)	missense	possibly damaging	0.83
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'- CCCAAGACTGAAGGATTGTCTC -3'
(R):5'- TGTTAGTAGTAACAGTCCTGGGC -3'

Sequencing Primer
(F):5'- CTGAAGGATTGTCTCAACGGG -3'
(R):5'- TAGTAACAGTCCTGGGCATCCTG -3'

Posted On

2019-11-26