Incidental Mutation 'R6526:Kdm2b'
ID 521831
Institutional Source Beutler Lab
Gene Symbol Kdm2b
Ensembl Gene ENSMUSG00000029475
Gene Name lysine (K)-specific demethylase 2B
Synonyms Cxxc2, Fbxl10, Jhdm1b
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 123008727-123127333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123099532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 136 (V136F)
Ref Sequence ENSEMBL: ENSMUSP00000118488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046073] [ENSMUST00000086200] [ENSMUST00000118027] [ENSMUST00000121739] [ENSMUST00000127403] [ENSMUST00000156474]
AlphaFold Q6P1G2
Predicted Effect probably damaging
Transcript: ENSMUST00000046073
AA Change: V142F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038229
Gene: ENSMUSG00000029475
AA Change: V142F

DomainStartEndE-ValueType
Blast:JmjC 23 101 4e-41 BLAST
JmjC 147 315 3.61e-41 SMART
low complexity region 380 401 N/A INTRINSIC
low complexity region 406 424 N/A INTRINSIC
PDB:2YU2|A 472 546 1e-17 PDB
Pfam:zf-CXXC 578 624 3e-17 PFAM
PHD 634 696 8.58e-4 SMART
low complexity region 792 823 N/A INTRINSIC
low complexity region 903 913 N/A INTRINSIC
low complexity region 990 1006 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
FBOX 1038 1078 1.69e-2 SMART
LRR 1121 1143 1.31e2 SMART
LRR 1145 1170 2.9e2 SMART
LRR 1185 1209 2.04e2 SMART
LRR 1210 1235 1.1e1 SMART
LRR 1265 1290 3.91e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086200
AA Change: V136F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083376
Gene: ENSMUSG00000029475
AA Change: V136F

DomainStartEndE-ValueType
Blast:JmjC 17 95 4e-41 BLAST
JmjC 141 309 3.61e-41 SMART
low complexity region 374 395 N/A INTRINSIC
low complexity region 400 418 N/A INTRINSIC
PDB:2YU2|A 466 540 1e-17 PDB
Pfam:zf-CXXC 572 618 2.1e-17 PFAM
PHD 628 690 8.58e-4 SMART
low complexity region 786 817 N/A INTRINSIC
low complexity region 897 907 N/A INTRINSIC
low complexity region 984 1000 N/A INTRINSIC
low complexity region 1012 1026 N/A INTRINSIC
FBOX 1032 1072 1.69e-2 SMART
LRR 1115 1137 1.31e2 SMART
LRR 1139 1164 2.9e2 SMART
LRR 1179 1203 2.04e2 SMART
LRR 1204 1229 1.1e1 SMART
LRR 1259 1284 3.91e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118027
AA Change: V142F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114052
Gene: ENSMUSG00000029475
AA Change: V142F

DomainStartEndE-ValueType
Blast:JmjC 23 101 4e-41 BLAST
JmjC 147 315 3.61e-41 SMART
low complexity region 380 401 N/A INTRINSIC
low complexity region 406 424 N/A INTRINSIC
PDB:2YU2|A 472 546 9e-18 PDB
Pfam:zf-CXXC 578 624 2.1e-17 PFAM
PHD 634 696 8.58e-4 SMART
low complexity region 865 875 N/A INTRINSIC
low complexity region 952 968 N/A INTRINSIC
low complexity region 980 994 N/A INTRINSIC
FBOX 1000 1040 1.69e-2 SMART
LRR 1083 1105 1.31e2 SMART
LRR 1107 1132 2.9e2 SMART
LRR 1147 1171 2.04e2 SMART
LRR 1172 1197 1.1e1 SMART
LRR 1227 1252 3.91e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121739
AA Change: V87F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114049
Gene: ENSMUSG00000029475
AA Change: V87F

DomainStartEndE-ValueType
Blast:JmjC 1 46 2e-19 BLAST
JmjC 92 260 3.61e-41 SMART
low complexity region 325 346 N/A INTRINSIC
low complexity region 351 369 N/A INTRINSIC
PDB:2YU2|A 417 491 1e-17 PDB
Pfam:zf-CXXC 523 569 5.4e-17 PFAM
PHD 579 641 8.58e-4 SMART
low complexity region 737 768 N/A INTRINSIC
low complexity region 848 858 N/A INTRINSIC
low complexity region 935 951 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
FBOX 983 1023 1.69e-2 SMART
LRR 1066 1088 1.31e2 SMART
LRR 1090 1115 2.9e2 SMART
LRR 1130 1154 2.04e2 SMART
LRR 1155 1180 1.1e1 SMART
LRR 1210 1235 3.91e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123479
Predicted Effect probably benign
Transcript: ENSMUST00000127403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134501
Predicted Effect probably damaging
Transcript: ENSMUST00000156474
AA Change: V136F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118488
Gene: ENSMUSG00000029475
AA Change: V136F

DomainStartEndE-ValueType
Blast:JmjC 17 95 3e-42 BLAST
JmjC 141 309 3.61e-41 SMART
low complexity region 374 395 N/A INTRINSIC
low complexity region 400 418 N/A INTRINSIC
PDB:2YU2|A 466 512 1e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150543
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: The protein encoded by this gene is a H3K36-specific histone demethylase, which contains an N-terminal jumonji C domain, a CxxC zinc finger domain, a plant homeodomain finger, an F-box, and eight leucine-rich repeats. Amongst its demonstrated functions, this protein plays roles in the suppression of premature cellular senescence, leukemia maintenance and development, maintenance of mouse embryonic stem cell pluripotency, and induced pluripotent stem cell generation. Mice homozygous for a targeted deletion of the zinc finger domain display embryonic lethality with development ceasing at approximately 7 to 8 days post coitum, demonstrating an essential role in early development. A pseudogene of this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a targeted allele that does not express the long form protein exhibit exencephaly, fetal and postnatal lethality, coloboma, curly tail, oligozoospermia, increased apoptosis, and increased neuronal precursor proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Kdm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Kdm2b APN 5 123,099,630 (GRCm39) missense probably damaging 1.00
IGL02061:Kdm2b APN 5 123,021,404 (GRCm39) missense probably damaging 1.00
IGL02142:Kdm2b APN 5 123,085,898 (GRCm39) missense probably damaging 0.99
IGL02143:Kdm2b APN 5 123,085,898 (GRCm39) missense probably damaging 0.99
IGL02147:Kdm2b APN 5 123,085,898 (GRCm39) missense probably damaging 0.99
IGL02294:Kdm2b APN 5 123,099,537 (GRCm39) missense probably damaging 1.00
IGL02309:Kdm2b APN 5 123,085,883 (GRCm39) missense probably damaging 0.99
IGL03039:Kdm2b APN 5 123,019,734 (GRCm39) missense probably benign 0.06
IGL03134:Kdm2b UTSW 5 123,070,737 (GRCm39) missense probably damaging 1.00
PIT4520001:Kdm2b UTSW 5 123,079,110 (GRCm39) missense probably damaging 1.00
R0008:Kdm2b UTSW 5 123,019,806 (GRCm39) missense probably benign 0.08
R0592:Kdm2b UTSW 5 123,099,197 (GRCm39) splice site probably benign
R0894:Kdm2b UTSW 5 123,122,523 (GRCm39) critical splice donor site probably null
R1078:Kdm2b UTSW 5 123,099,604 (GRCm39) missense possibly damaging 0.83
R1387:Kdm2b UTSW 5 123,018,331 (GRCm39) missense probably damaging 1.00
R1441:Kdm2b UTSW 5 123,070,943 (GRCm39) missense probably benign 0.25
R1550:Kdm2b UTSW 5 123,019,120 (GRCm39) missense probably damaging 1.00
R1795:Kdm2b UTSW 5 123,122,523 (GRCm39) critical splice donor site probably null
R2060:Kdm2b UTSW 5 123,021,428 (GRCm39) missense probably damaging 1.00
R2161:Kdm2b UTSW 5 123,018,762 (GRCm39) missense probably damaging 1.00
R2259:Kdm2b UTSW 5 123,020,479 (GRCm39) missense probably damaging 1.00
R3843:Kdm2b UTSW 5 123,072,856 (GRCm39) missense probably damaging 0.98
R3844:Kdm2b UTSW 5 123,072,856 (GRCm39) missense probably damaging 0.98
R3859:Kdm2b UTSW 5 123,018,290 (GRCm39) missense probably damaging 1.00
R4506:Kdm2b UTSW 5 123,026,688 (GRCm39) missense possibly damaging 0.58
R4680:Kdm2b UTSW 5 123,072,849 (GRCm39) missense probably damaging 0.99
R4786:Kdm2b UTSW 5 123,018,917 (GRCm39) critical splice acceptor site probably null
R4894:Kdm2b UTSW 5 123,079,030 (GRCm39) nonsense probably null
R5265:Kdm2b UTSW 5 123,016,651 (GRCm39) missense probably damaging 1.00
R5522:Kdm2b UTSW 5 123,087,225 (GRCm39) missense probably damaging 1.00
R5746:Kdm2b UTSW 5 123,017,427 (GRCm39) missense probably damaging 1.00
R5813:Kdm2b UTSW 5 123,009,931 (GRCm39) missense probably benign 0.37
R5920:Kdm2b UTSW 5 123,018,359 (GRCm39) missense probably damaging 1.00
R5961:Kdm2b UTSW 5 123,070,724 (GRCm39) missense probably benign 0.37
R6029:Kdm2b UTSW 5 123,017,650 (GRCm39) missense probably damaging 1.00
R6280:Kdm2b UTSW 5 123,016,687 (GRCm39) missense probably damaging 1.00
R6303:Kdm2b UTSW 5 123,019,807 (GRCm39) missense probably benign 0.34
R6304:Kdm2b UTSW 5 123,019,807 (GRCm39) missense probably benign 0.34
R6383:Kdm2b UTSW 5 123,072,841 (GRCm39) missense probably damaging 1.00
R6432:Kdm2b UTSW 5 123,018,254 (GRCm39) missense probably damaging 1.00
R6513:Kdm2b UTSW 5 123,018,302 (GRCm39) missense probably damaging 0.99
R7213:Kdm2b UTSW 5 123,059,532 (GRCm39) missense probably damaging 0.99
R7226:Kdm2b UTSW 5 123,059,512 (GRCm39) missense possibly damaging 0.60
R7292:Kdm2b UTSW 5 123,018,854 (GRCm39) missense probably damaging 0.98
R7893:Kdm2b UTSW 5 123,085,802 (GRCm39) missense probably benign 0.12
R8021:Kdm2b UTSW 5 123,070,982 (GRCm39) missense probably damaging 0.99
R8038:Kdm2b UTSW 5 123,098,958 (GRCm39) intron probably benign
R8162:Kdm2b UTSW 5 123,072,856 (GRCm39) missense probably damaging 0.98
R8397:Kdm2b UTSW 5 123,018,579 (GRCm39) missense probably benign 0.03
R8411:Kdm2b UTSW 5 123,018,239 (GRCm39) missense probably damaging 1.00
R8899:Kdm2b UTSW 5 123,125,851 (GRCm39) nonsense probably null
R8997:Kdm2b UTSW 5 123,018,236 (GRCm39) missense probably null 0.99
R9142:Kdm2b UTSW 5 123,127,112 (GRCm39) unclassified probably benign
R9192:Kdm2b UTSW 5 123,070,679 (GRCm39) missense probably benign 0.05
R9238:Kdm2b UTSW 5 123,009,889 (GRCm39) missense probably damaging 0.98
R9455:Kdm2b UTSW 5 123,099,537 (GRCm39) missense probably damaging 1.00
R9644:Kdm2b UTSW 5 123,120,842 (GRCm39) missense probably damaging 0.98
R9731:Kdm2b UTSW 5 123,125,823 (GRCm39) missense probably benign 0.03
Z1177:Kdm2b UTSW 5 123,018,860 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCATCAGATCCAACTCTGCC -3'
(R):5'- AGCTCTGTAGGAGAAGCAGTTG -3'

Sequencing Primer
(F):5'- TAAGGGATCAGTCTCGGCCAC -3'
(R):5'- CTCCCTCGTGGCGTCTG -3'
Posted On 2018-06-06