Incidental Mutation 'R9142:Kdm2b'
ID 723607
Institutional Source Beutler Lab
Gene Symbol Kdm2b
Ensembl Gene ENSMUSG00000029475
Gene Name lysine (K)-specific demethylase 2B
Synonyms Cxxc2, Fbxl10, Jhdm1b
MMRRC Submission 068934-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9142 (G1)
Quality Score 75.0075
Status Validated
Chromosome 5
Chromosomal Location 123008727-123127333 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 123127112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046073] [ENSMUST00000086200] [ENSMUST00000118027] [ENSMUST00000121739] [ENSMUST00000127403] [ENSMUST00000156474]
AlphaFold Q6P1G2
Predicted Effect probably benign
Transcript: ENSMUST00000046073
SMART Domains Protein: ENSMUSP00000038229
Gene: ENSMUSG00000029475

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 benign
Transcript: ENSMUST00000086200
SMART Domains Protein: ENSMUSP00000083376
Gene: ENSMUSG00000029475

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 benign
Transcript: ENSMUST00000118027
SMART Domains Protein: ENSMUSP00000114052
Gene: ENSMUSG00000029475

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 benign
Transcript: ENSMUST00000121739
SMART Domains Protein: ENSMUSP00000114049
Gene: ENSMUSG00000029475

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 probably benign
Transcript: ENSMUST00000127403
Predicted Effect probably benign
Transcript: ENSMUST00000156474
SMART Domains Protein: ENSMUSP00000118488
Gene: ENSMUSG00000029475

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs C A 4: 126,215,360 (GRCm39) G35V probably damaging Het
Apob A C 12: 8,062,705 (GRCm39) D3729A possibly damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Arap3 G A 18: 38,112,934 (GRCm39) A1092V possibly damaging Het
Arid3a T C 10: 79,787,612 (GRCm39) S550P unknown Het
Armc2 T G 10: 41,851,404 (GRCm39) E259D probably benign Het
Atp13a2 A G 4: 140,729,364 (GRCm39) D566G probably damaging Het
Bnc2 A G 4: 84,474,111 (GRCm39) C12R probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cc2d2b C T 19: 40,753,845 (GRCm39) R123* probably null Het
Cdc37l1 T A 19: 28,989,402 (GRCm39) H286Q possibly damaging Het
Cfap54 A T 10: 92,820,097 (GRCm39) L1239Q possibly damaging Het
Cfap58 T C 19: 47,974,993 (GRCm39) probably null Het
Col6a3 A T 1: 90,706,566 (GRCm39) D2789E unknown Het
Ctnna2 G T 6: 76,879,423 (GRCm39) probably benign Het
Dazl A G 17: 50,590,178 (GRCm39) V271A probably benign Het
Dennd4c A T 4: 86,755,637 (GRCm39) N1610Y probably benign Het
Dusp13b T A 14: 21,792,756 (GRCm39) K56N probably benign Het
Erbb2 T A 11: 98,312,884 (GRCm39) I149N probably damaging Het
Erbb4 A T 1: 68,388,552 (GRCm39) C217S probably damaging Het
Fbxw21 A G 9: 108,985,413 (GRCm39) C122R probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Foxm1 T A 6: 128,344,298 (GRCm39) I182N probably damaging Het
Ggnbp2 T C 11: 84,730,886 (GRCm39) N381S possibly damaging Het
Gja3 T C 14: 57,274,048 (GRCm39) E108G probably benign Het
Gm40460 C A 7: 141,794,499 (GRCm39) G106V unknown Het
Gm9736 A G 10: 77,586,849 (GRCm39) C114R unknown Het
Gpbp1 A T 13: 111,563,033 (GRCm39) D492E unknown Het
Gper1 T C 5: 139,412,312 (GRCm39) V219A possibly damaging Het
Gtf2e1 C T 16: 37,356,364 (GRCm39) R56Q probably benign Het
H2ac10 T C 13: 23,718,151 (GRCm39) L24P probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Kat6a T A 8: 23,430,072 (GRCm39) M1809K unknown Het
Kif7 A T 7: 79,356,585 (GRCm39) M702K probably benign Het
Lrrtm4 T A 6: 79,999,426 (GRCm39) N279K probably damaging Het
Mcrip1 G A 11: 120,435,542 (GRCm39) P31L probably damaging Het
Mettl25b A G 3: 87,831,195 (GRCm39) I444T probably benign Het
Nf1 T A 11: 79,362,315 (GRCm39) S1497R probably damaging Het
Nf1 T A 11: 79,366,688 (GRCm39) I1607N probably damaging Het
Nrde2 G T 12: 100,117,518 (GRCm39) T47K probably benign Het
Or5w12 C T 2: 87,502,313 (GRCm39) V133I probably benign Het
Or6b2b T G 1: 92,419,411 (GRCm39) E22A probably benign Het
Or6c1 T C 10: 129,518,285 (GRCm39) T108A probably benign Het
Ppargc1a G A 5: 51,652,146 (GRCm39) T184I possibly damaging Het
Ppp1r15a T C 7: 45,173,920 (GRCm39) D296G probably damaging Het
Prl7c1 C T 13: 27,964,751 (GRCm39) probably benign Het
Prss42 G T 9: 110,628,228 (GRCm39) R124L possibly damaging Het
Psmd1 T G 1: 86,064,817 (GRCm39) Y950D probably damaging Het
Ptprr A T 10: 116,024,119 (GRCm39) L250F possibly damaging Het
Rabgef1 T A 5: 130,237,554 (GRCm39) M208K possibly damaging Het
Rps6ka2 A G 17: 7,437,793 (GRCm39) Y17C probably damaging Het
Scart2 T A 7: 139,877,806 (GRCm39) D929E probably damaging Het
Sec23ip T A 7: 128,363,226 (GRCm39) C463S probably damaging Het
Serpina3n A G 12: 104,379,710 (GRCm39) T368A probably damaging Het
Sez6l C T 5: 112,609,083 (GRCm39) A589T probably benign Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Spag5 T A 11: 78,192,823 (GRCm39) Y52N possibly damaging Het
Tenm3 G A 8: 48,788,548 (GRCm39) S494L unknown Het
Top3b T C 16: 16,701,299 (GRCm39) Y204H probably damaging Het
Trim43b C T 9: 88,973,452 (GRCm39) V94M possibly damaging Het
Trps1 T G 15: 50,524,658 (GRCm39) I1091L probably damaging Het
Ttk G A 9: 83,725,741 (GRCm39) R221Q probably damaging Het
Ttn A C 2: 76,549,466 (GRCm39) M31737R probably damaging Het
Uso1 T A 5: 92,335,125 (GRCm39) L495* probably null Het
Usp19 A G 9: 108,372,284 (GRCm39) D447G possibly damaging Het
Zdhhc2 A G 8: 40,920,563 (GRCm39) E274G probably damaging Het
Zfp106 T A 2: 120,350,935 (GRCm39) Y1595F probably damaging Het
Zfp932 A T 5: 110,157,520 (GRCm39) H406L probably damaging 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
R6526:Kdm2b UTSW 5 123,099,532 (GRCm39) missense probably damaging 1.00
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
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'- ACACCAATCTTCTTCCAGAGTC -3'
(R):5'- ATGCCAAGGCGCTAACAGC -3'

Sequencing Primer
(F):5'- ACCAATCTTCTTCCAGAGTCTTTCTC -3'
(R):5'- ACACCTCCTACGGCTGC -3'
Posted On 2022-09-08