Incidental Mutation 'R0491:Kbtbd2'
ID42461
Institutional Source Beutler Lab
Gene Symbol Kbtbd2
Ensembl Gene ENSMUSG00000059486
Gene Namekelch repeat and BTB (POZ) domain containing 2
SynonymsBklhd1
MMRRC Submission 038689-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0491 (G1)
Quality Score120
Status Validated
Chromosome6
Chromosomal Location56777524-56797813 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 56780389 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 121 (R121*)
Ref Sequence ENSEMBL: ENSMUSP00000109962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]
Predicted Effect probably null
Transcript: ENSMUST00000114321
AA Change: R121*
SMART Domains Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: R121*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000114323
AA Change: R121*
SMART Domains Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: R121*

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,182,243 S356T probably damaging Het
Abca13 T C 11: 9,298,235 F2661L probably benign Het
Acadsb A G 7: 131,430,107 D224G probably benign Het
Acsm1 A G 7: 119,640,697 H288R probably damaging Het
Adamts2 A G 11: 50,776,630 D465G probably damaging Het
Akap9 A T 5: 3,972,851 probably benign Het
Alms1 A G 6: 85,702,600 T3240A probably damaging Het
Ap3d1 A G 10: 80,719,241 W417R probably damaging Het
Arfgef1 C A 1: 10,179,987 probably benign Het
Atf6 A G 1: 170,787,344 probably null Het
Cacna1s T A 1: 136,089,008 probably benign Het
Clcn1 T C 6: 42,310,581 F740L probably benign Het
Clec12a T A 6: 129,364,053 D265E probably benign Het
Clic3 T A 2: 25,457,785 probably benign Het
Cntnap3 T G 13: 64,762,045 T749P probably benign Het
Col11a2 T A 17: 34,042,212 D45E probably null Het
Crxos T A 7: 15,898,535 S89T probably benign Het
Cxcr1 G T 1: 74,192,309 P185T possibly damaging Het
Cyp20a1 T A 1: 60,371,327 N262K possibly damaging Het
Dpy19l2 T C 9: 24,696,028 R46G probably benign Het
Dpysl2 A T 14: 66,807,962 L454Q probably damaging Het
Dvl3 C T 16: 20,527,423 probably benign Het
Eppin T A 2: 164,589,412 E98V possibly damaging Het
Fancm A T 12: 65,106,061 H1097L probably benign Het
Fkbp4 A G 6: 128,435,742 I75T probably damaging Het
Fmn2 A G 1: 174,581,959 H586R unknown Het
Gm973 C T 1: 59,558,234 probably benign Het
Haus6 A C 4: 86,602,846 V185G possibly damaging Het
Herc2 T A 7: 56,122,366 C1098S possibly damaging Het
Hic1 C A 11: 75,166,310 L584F possibly damaging Het
Itgb1bp1 C A 12: 21,276,895 probably benign Het
Lgr4 C T 2: 110,007,281 probably benign Het
Lrrc55 T C 2: 85,191,920 E309G probably damaging Het
Mertk T C 2: 128,793,107 probably null Het
Micu3 A G 8: 40,366,253 probably benign Het
Mmp11 G A 10: 75,926,758 A287V probably benign Het
Mpzl2 A G 9: 45,042,741 Y47C probably damaging Het
Muc5b A C 7: 141,862,015 R2899S probably benign Het
Myo1b A G 1: 51,755,698 Y1078H probably benign Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Ncapd3 T G 9: 27,057,883 V611G probably damaging Het
Ntpcr C T 8: 125,737,354 R73* probably null Het
Olfr1225 A T 2: 89,170,360 V284E probably benign Het
Olfr1475 G A 19: 13,479,493 A235V probably damaging Het
Osbp2 A G 11: 3,714,709 F88S probably damaging Het
Pkn3 A T 2: 30,089,877 T711S probably damaging Het
Plekhm1 T C 11: 103,394,776 K278E probably benign Het
Ppp1r36 A G 12: 76,439,291 T408A probably benign Het
Prss41 T C 17: 23,842,503 T105A possibly damaging Het
Psme1 G T 14: 55,579,921 probably benign Het
Ptprq A T 10: 107,608,175 Y1523N probably damaging Het
Ric8b A G 10: 84,992,222 D470G probably damaging Het
Scarb1 A G 5: 125,298,731 probably benign Het
Slc25a54 G A 3: 109,102,796 A204T probably damaging Het
Spink10 T C 18: 62,659,965 C67R probably damaging Het
St5 T A 7: 109,557,204 Q113L probably benign Het
Tmtc1 A T 6: 148,412,640 probably null Het
Tprkb A G 6: 85,924,464 D28G probably benign Het
Ttll13 A G 7: 80,260,350 H747R probably benign Het
Usp24 A G 4: 106,402,105 S1608G probably benign Het
Utp20 A T 10: 88,760,912 F2115L probably damaging Het
Vmn1r200 A T 13: 22,395,191 I46L probably benign Het
Zdhhc8 A T 16: 18,228,390 M103K probably damaging Het
Zfp595 C T 13: 67,317,305 G298E probably damaging Het
Zfp738 T G 13: 67,670,021 H617P possibly damaging Het
Zfp9 A T 6: 118,465,202 H166Q probably damaging Het
Zp3r C A 1: 130,618,334 D80Y probably damaging Het
Other mutations in Kbtbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Kbtbd2 APN 6 56779048 missense possibly damaging 0.94
infinitesimal UTSW 6 56779090 missense probably damaging 1.00
teeny UTSW 6 56780389 nonsense probably null
tiny UTSW 6 56779206 missense probably damaging 0.99
R1452:Kbtbd2 UTSW 6 56781924 missense probably damaging 0.98
R1696:Kbtbd2 UTSW 6 56779341 missense probably benign 0.00
R2146:Kbtbd2 UTSW 6 56779090 missense probably damaging 1.00
R4563:Kbtbd2 UTSW 6 56789279 missense probably benign
R4579:Kbtbd2 UTSW 6 56778908 missense probably damaging 0.99
R4702:Kbtbd2 UTSW 6 56779303 missense probably benign 0.00
R4855:Kbtbd2 UTSW 6 56779702 missense probably benign 0.01
R4959:Kbtbd2 UTSW 6 56781958 missense probably benign 0.11
R4973:Kbtbd2 UTSW 6 56781958 missense probably benign 0.11
R5096:Kbtbd2 UTSW 6 56779275 missense probably benign 0.06
R6360:Kbtbd2 UTSW 6 56779206 missense probably damaging 0.99
R6754:Kbtbd2 UTSW 6 56779254 missense probably damaging 0.99
R6864:Kbtbd2 UTSW 6 56780026 nonsense probably null
R6900:Kbtbd2 UTSW 6 56780023 missense probably damaging 1.00
R7738:Kbtbd2 UTSW 6 56779737 missense possibly damaging 0.92
Z1176:Kbtbd2 UTSW 6 56780309 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTACTCTAGCCAGAGCATGGCAG -3'
(R):5'- GATTACCAGTGTGTGCCACTCATCC -3'

Sequencing Primer
(F):5'- CTACATTTAAGTTGTCGCTGCTGAG -3'
(R):5'- TAAAACTTGACAGTACAGGAGCATC -3'
Posted On2013-05-23