Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Kbtbd2'

703425

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd2

Ensembl Gene

ENSMUSG00000059486

Gene Name

kelch repeat and BTB (POZ) domain containing 2

Synonyms

Bklhd1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56754510-56774798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56757331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 135 (R135L)

Ref Sequence

ENSEMBL: ENSMUSP00000109960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]

AlphaFold

G3X9X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000114321
AA Change: R135L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: R135L

Domain	Start	End	E-Value	Type
BTB	31	128	1.5e-28	SMART
BACK	133	235	7.34e-27	SMART
Kelch	317	380	7.31e0	SMART
Kelch	381	429	4.33e-4	SMART
Kelch	430	469	2.7e0	SMART
Kelch	470	532	7.7e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114323
AA Change: R135L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: R135L

Domain	Start	End	E-Value	Type
BTB	31	128	1.5e-28	SMART
BACK	133	235	7.34e-27	SMART
Kelch	317	380	7.31e0	SMART
Kelch	381	429	4.33e-4	SMART
Kelch	430	469	2.7e0	SMART
Kelch	470	532	7.7e0	SMART

Coding Region Coverage

1x: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Aicda	C	T	6: 122,538,854 (GRCm39)	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Aspa	T	C	11: 73,215,280 (GRCm39)	K12E	possibly damaging	Het
Chd8	G	A	14: 52,472,627 (GRCm39)	P392L	probably benign	Het
Cldn10	C	T	14: 119,111,647 (GRCm39)	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,181,224 (GRCm39)	M203K	probably damaging	Het
Clec4d	G	T	6: 123,251,651 (GRCm39)	E178*	probably null	Het
Clec4d	T	C	6: 123,251,649 (GRCm39)	M177T	probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Col1a1	T	A	11: 94,838,103 (GRCm39)	V845D	unknown	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dda1	A	T	8: 71,927,130 (GRCm39)		probably null	Het
Ddx60	A	T	8: 62,431,012 (GRCm39)	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,006,728 (GRCm39)	T250I	probably damaging	Het
Efcab6	A	G	15: 83,777,094 (GRCm39)	V1114A	probably damaging	Het
Fat4	A	G	3: 38,945,171 (GRCm39)	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,789,940 (GRCm39)	D390A	possibly damaging	Het
Gnaz	T	A	10: 74,827,437 (GRCm39)	L63Q	probably benign	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,965,786 (GRCm39)		probably benign	Het
Hps5	A	G	7: 46,440,397 (GRCm39)	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,694 (GRCm39)	E189G	probably benign	Het
Ifnar1	T	A	16: 91,302,013 (GRCm39)	I496N	probably damaging	Het
Ift70a2	T	C	2: 75,807,375 (GRCm39)	D379G	probably damaging	Het
Igf2r	C	A	17: 12,914,240 (GRCm39)	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Itch	A	G	2: 155,045,217 (GRCm39)	Q507R	probably benign	Het
Kcnn2	T	C	18: 45,725,446 (GRCm39)	I314T	probably damaging	Het
Lix1	A	G	17: 17,623,211 (GRCm39)	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcam	G	T	9: 44,046,473 (GRCm39)		probably benign	Het
Med19	G	T	2: 84,508,975 (GRCm39)	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 39,883,330 (GRCm39)	R40H	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Nlrc5	A	G	8: 95,237,908 (GRCm39)	D1434G	probably benign	Het
Nlrp14	A	T	7: 106,797,049 (GRCm39)	N972I	probably damaging	Het
Or13a18	T	C	7: 140,190,936 (GRCm39)	Y278H	probably damaging	Het
Or14j7	A	T	17: 38,235,275 (GRCm39)	M273L	probably benign	Het
Or2h15	A	T	17: 38,441,693 (GRCm39)	L130Q	probably damaging	Het
Or4a74	A	C	2: 89,439,948 (GRCm39)	F166C	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,781 (GRCm39)	V135A	probably benign	Het
Otop1	T	C	5: 38,460,158 (GRCm39)	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,441,925 (GRCm39)	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,161,224 (GRCm39)	D230G	probably damaging	Het
Phldb2	C	A	16: 45,646,308 (GRCm39)	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,508,587 (GRCm39)	N785I	probably damaging	Het
Polr2b	A	G	5: 77,471,485 (GRCm39)	R274G	probably damaging	Het
Prkdc	G	A	16: 15,634,523 (GRCm39)		probably null	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Slc25a48	A	G	13: 56,611,552 (GRCm39)	I220V	probably benign	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Slc45a4	A	G	15: 73,458,206 (GRCm39)	Y448H	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Spef2	A	G	15: 9,727,495 (GRCm39)		probably null	Het
Spon1	T	C	7: 113,628,188 (GRCm39)	S315P	probably damaging	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Sv2c	A	G	13: 96,112,589 (GRCm39)	M636T	probably damaging	Het
Syt17	T	A	7: 118,033,480 (GRCm39)	D172V	probably damaging	Het
Tcf4	A	G	18: 69,766,652 (GRCm39)	Y206C	probably damaging	Het
Tead2	G	T	7: 44,880,776 (GRCm39)	S318I	probably benign	Het
Tom1	A	T	8: 75,783,883 (GRCm39)	D289V	probably damaging	Het
Tonsl	A	G	15: 76,520,971 (GRCm39)		probably benign	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Usp15	A	G	10: 123,007,112 (GRCm39)	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,368,258 (GRCm39)	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,692,561 (GRCm39)	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,269,788 (GRCm39)	M433K	probably benign	Het
Vmn2r97	A	T	17: 19,134,762 (GRCm39)	H60L	probably benign	Het
Wbp4	A	G	14: 79,699,486 (GRCm39)	V336A	probably benign	Het
Zfp663	T	C	2: 165,202,010 (GRCm39)		probably null	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably damaging	Het

Other mutations in Kbtbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Kbtbd2	APN	6	56,756,033 (GRCm39)	missense	possibly damaging	0.94
infinitesimal	UTSW	6	56,756,075 (GRCm39)	missense	probably damaging	1.00
teeny	UTSW	6	56,757,374 (GRCm39)	nonsense	probably null
tiny	UTSW	6	56,756,191 (GRCm39)	missense	probably damaging	0.99
R0491:Kbtbd2	UTSW	6	56,757,374 (GRCm39)	nonsense	probably null
R1452:Kbtbd2	UTSW	6	56,758,909 (GRCm39)	missense	probably damaging	0.98
R1696:Kbtbd2	UTSW	6	56,756,326 (GRCm39)	missense	probably benign	0.00
R2146:Kbtbd2	UTSW	6	56,756,075 (GRCm39)	missense	probably damaging	1.00
R4563:Kbtbd2	UTSW	6	56,766,264 (GRCm39)	missense	probably benign
R4579:Kbtbd2	UTSW	6	56,755,893 (GRCm39)	missense	probably damaging	0.99
R4702:Kbtbd2	UTSW	6	56,756,288 (GRCm39)	missense	probably benign	0.00
R4855:Kbtbd2	UTSW	6	56,756,687 (GRCm39)	missense	probably benign	0.01
R4959:Kbtbd2	UTSW	6	56,758,943 (GRCm39)	missense	probably benign	0.11
R4973:Kbtbd2	UTSW	6	56,758,943 (GRCm39)	missense	probably benign	0.11
R5096:Kbtbd2	UTSW	6	56,756,260 (GRCm39)	missense	probably benign	0.06
R6360:Kbtbd2	UTSW	6	56,756,191 (GRCm39)	missense	probably damaging	0.99
R6754:Kbtbd2	UTSW	6	56,756,239 (GRCm39)	missense	probably damaging	0.99
R6864:Kbtbd2	UTSW	6	56,757,011 (GRCm39)	nonsense	probably null
R6900:Kbtbd2	UTSW	6	56,757,008 (GRCm39)	missense	probably damaging	1.00
R7738:Kbtbd2	UTSW	6	56,756,722 (GRCm39)	missense	possibly damaging	0.92
R8409:Kbtbd2	UTSW	6	56,757,341 (GRCm39)	missense	probably damaging	0.97
R9203:Kbtbd2	UTSW	6	56,755,987 (GRCm39)	missense	probably damaging	0.98
R9213:Kbtbd2	UTSW	6	56,756,917 (GRCm39)	missense	probably damaging	1.00
R9280:Kbtbd2	UTSW	6	56,755,997 (GRCm39)	missense	probably damaging	1.00
R9427:Kbtbd2	UTSW	6	56,756,132 (GRCm39)	missense	probably damaging	0.99
R9715:Kbtbd2	UTSW	6	56,756,566 (GRCm39)	missense	probably benign	0.00
Z1176:Kbtbd2	UTSW	6	56,757,294 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCTGTGTTGTACTCTAGCCAG -3'
(R):5'- GCATCTGCTATGGGAAACCTG -3'

Sequencing Primer
(F):5'- AGAGCATGGCAGCCTCTC -3'
(R):5'- CAGGGTCCTGAGTTCAAA -3'

Posted On

2022-03-25