Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Btbd2'

716460

Institutional Source

Beutler Lab

Gene Symbol

Btbd2

Ensembl Gene

ENSMUSG00000003344

Gene Name

BTB (POZ) domain containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80642617-80657071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80644269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 419 (N419S)

Ref Sequence

ENSEMBL: ENSMUSP00000003434 (fasta)

Gene Model

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

AlphaFold

E9PUS2

Predicted Effect

probably benign
Transcript: ENSMUST00000003434
AA Change: N419S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: N419S

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 benign
Transcript: ENSMUST00000126980
AA Change: N404S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: N404S

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786 (GRCm38)	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344 (GRCm38)	I193T	probably benign	Het
Cacna2d1	T	A	5: 16,356,833 (GRCm38)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647 (GRCm38)	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163 (GRCm38)	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937 (GRCm38)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917 (GRCm38)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712 (GRCm38)	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296 (GRCm38)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111 (GRCm38)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444 (GRCm38)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208 (GRCm38)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746 (GRCm38)	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432 (GRCm38)	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568 (GRCm38)	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825 (GRCm38)	E1262G	unknown	Het
Evl	T	A	12: 108,686,457 (GRCm38)	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926 (GRCm38)	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797 (GRCm38)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134 (GRCm38)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026 (GRCm38)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039 (GRCm38)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215 (GRCm38)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm38)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003 (GRCm38)	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479 (GRCm38)	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015 (GRCm38)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032 (GRCm38)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678 (GRCm38)	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782 (GRCm38)	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334 (GRCm38)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694 (GRCm38)		probably null	Het
Krtap5-3	T	A	7: 142,202,331 (GRCm38)	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309 (GRCm38)	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594 (GRCm38)	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468 (GRCm38)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336 (GRCm38)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm38)	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488 (GRCm38)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240 (GRCm38)	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638 (GRCm38)	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348 (GRCm38)	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417 (GRCm38)	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371 (GRCm38)	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991 (GRCm38)	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033 (GRCm38)		probably null	Het
Otogl	C	T	10: 107,901,295 (GRCm38)	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844 (GRCm38)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894 (GRCm38)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426 (GRCm38)	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524 (GRCm38)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809 (GRCm38)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617 (GRCm38)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407 (GRCm38)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549 (GRCm38)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947 (GRCm38)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786 (GRCm38)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234 (GRCm38)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946 (GRCm38)	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466 (GRCm38)	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973 (GRCm38)	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973 (GRCm38)		probably benign	Het
Stra8	T	A	6: 34,934,186 (GRCm38)	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359 (GRCm38)	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250 (GRCm38)	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883 (GRCm38)	E27*	probably null	Het
Thada	C	A	17: 84,429,191 (GRCm38)	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629 (GRCm38)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356 (GRCm38)	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944 (GRCm38)	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838 (GRCm38)	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267 (GRCm38)	S233P	unknown	Het
Urm1	T	A	2: 29,842,748 (GRCm38)	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765 (GRCm38)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922 (GRCm38)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088 (GRCm38)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433 (GRCm38)	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843 (GRCm38)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010 (GRCm38)	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979 (GRCm38)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281 (GRCm38)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157 (GRCm38)	I390V	possibly damaging	Het

Other mutations in Btbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
brachio	UTSW	10	80,645,531 (GRCm38)	missense	probably damaging	1.00
R0245:Btbd2	UTSW	10	80,647,806 (GRCm38)	missense	probably damaging	1.00
R1794:Btbd2	UTSW	10	80,643,913 (GRCm38)	missense	probably damaging	1.00
R1960:Btbd2	UTSW	10	80,644,705 (GRCm38)	missense	probably benign	0.06
R4827:Btbd2	UTSW	10	80,646,389 (GRCm38)	missense	probably damaging	1.00
R5197:Btbd2	UTSW	10	80,646,419 (GRCm38)	missense	probably damaging	0.98
R5372:Btbd2	UTSW	10	80,648,641 (GRCm38)	missense	probably damaging	0.99
R6108:Btbd2	UTSW	10	80,645,531 (GRCm38)	missense	probably damaging	1.00
R6316:Btbd2	UTSW	10	80,644,778 (GRCm38)	missense	probably damaging	0.98
R6355:Btbd2	UTSW	10	80,645,349 (GRCm38)	missense	possibly damaging	0.81
R6872:Btbd2	UTSW	10	80,644,332 (GRCm38)	missense	probably damaging	0.99
R7016:Btbd2	UTSW	10	80,648,615 (GRCm38)	missense	probably damaging	1.00
R7300:Btbd2	UTSW	10	80,644,266 (GRCm38)	missense	probably damaging	1.00
R7524:Btbd2	UTSW	10	80,646,444 (GRCm38)	missense	probably damaging	0.97
R7617:Btbd2	UTSW	10	80,646,392 (GRCm38)	missense	probably damaging	1.00
R7756:Btbd2	UTSW	10	80,648,606 (GRCm38)	missense	probably benign	0.05
R7762:Btbd2	UTSW	10	80,643,556 (GRCm38)	missense	probably damaging	1.00
R8696:Btbd2	UTSW	10	80,644,681 (GRCm38)	missense	possibly damaging	0.83
R9321:Btbd2	UTSW	10	80,647,841 (GRCm38)	missense	probably damaging	0.99
R9655:Btbd2	UTSW	10	80,656,211 (GRCm38)	missense	probably benign	0.40
R9784:Btbd2	UTSW	10	80,648,647 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACTTGGGCATGCTCTCAAG -3'
(R):5'- AATGGGCAATGTGACGTCCC -3'

Sequencing Primer
(F):5'- CATGCTCTCAAGATGGGTATGGC -3'
(R):5'- GCAATGTGACGTCCCCACAG -3'

Posted On

2022-07-18