Incidental Mutation 'R4630:Alkbh2'
ID 349106
Institutional Source Beutler Lab
Gene Symbol Alkbh2
Ensembl Gene ENSMUSG00000044339
Gene Name alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase
Synonyms Abh2, mABH2
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114261987-114266279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114262287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 148 (E148K)
Ref Sequence ENSEMBL: ENSMUSP00000107898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000053657] [ENSMUST00000112279] [ENSMUST00000149418] [ENSMUST00000200119]
AlphaFold Q6P6J4
Predicted Effect probably benign
Transcript: ENSMUST00000031588
SMART Domains Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
Pfam:UCH 67 499 2.6e-44 PFAM
Pfam:UCH_1 68 481 8.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053657
AA Change: E148K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339
AA Change: E148K

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 47 232 1.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112279
AA Change: E148K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339
AA Change: E148K

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 47 232 5.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149418
Predicted Effect probably benign
Transcript: ENSMUST00000200119
SMART Domains Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
Pfam:UCH 67 368 2.9e-31 PFAM
Pfam:UCH_1 68 376 1e-14 PFAM
Meta Mutation Damage Score 0.2232 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable and overtly normal but show progressive accumulation of 1-methyladenine (1meA) in their genomic DNA due to impaired DNA repair. Mutant MEFs fail to remove methyl methane sulfate (MMS)-induced 1meA from genomic DNA and showincreased cytotoxicity after MMS exposure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null Het
Other mutations in Alkbh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02298:Alkbh2 APN 5 114,263,633 (GRCm39) missense probably benign
R0326:Alkbh2 UTSW 5 114,262,011 (GRCm39) makesense probably null
R0480:Alkbh2 UTSW 5 114,263,596 (GRCm39) missense probably damaging 1.00
R0962:Alkbh2 UTSW 5 114,262,014 (GRCm39) missense possibly damaging 0.94
R1214:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1215:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1280:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1282:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1309:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1340:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1371:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1443:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1445:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1545:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1546:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1629:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1631:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1632:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1707:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1769:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1920:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1921:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1922:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R1984:Alkbh2 UTSW 5 114,262,115 (GRCm39) missense probably benign 0.12
R2140:Alkbh2 UTSW 5 114,263,777 (GRCm39) missense probably benign 0.03
R2142:Alkbh2 UTSW 5 114,263,777 (GRCm39) missense probably benign 0.03
R3800:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R3981:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4032:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4062:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4064:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4163:Alkbh2 UTSW 5 114,265,613 (GRCm39) missense probably damaging 1.00
R4569:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4570:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4624:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4625:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4626:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4627:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4628:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4632:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4633:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4801:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4802:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R4803:Alkbh2 UTSW 5 114,262,287 (GRCm39) missense probably damaging 0.98
R9519:Alkbh2 UTSW 5 114,265,794 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCATCATCAGCAGGCTTCC -3'
(R):5'- GCCTGCAGGTATTGTAAGAAGC -3'

Sequencing Primer
(F):5'- TCATCAGCAGGCTTCCGTGTG -3'
(R):5'- CCCAAATAGTTCTACTAGCTGGGG -3'
Posted On 2015-10-08