Incidental Mutation 'R6384:Hmga2'
ID 515511
Institutional Source Beutler Lab
Gene Symbol Hmga2
Ensembl Gene ENSMUSG00000056758
Gene Name high mobility group AT-hook 2
Synonyms 9430083A20Rik, HMGI-C, Hmgic
MMRRC Submission 044533-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R6384 (G1)
Quality Score 208.009
Status Not validated
Chromosome 10
Chromosomal Location 120197180-120312374 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 120206612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072777] [ENSMUST00000159699]
AlphaFold P52927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000041178
Predicted Effect probably benign
Transcript: ENSMUST00000072777
SMART Domains Protein: ENSMUSP00000072556
Gene: ENSMUSG00000056758

DomainStartEndE-ValueType
AT_hook 26 38 1.26e-1 SMART
AT_hook 46 58 1.86e0 SMART
AT_hook 74 86 1.61e-1 SMART
low complexity region 93 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159621
Predicted Effect unknown
Transcript: ENSMUST00000159699
AA Change: R101C
SMART Domains Protein: ENSMUSP00000123998
Gene: ENSMUSG00000056758
AA Change: R101C

DomainStartEndE-ValueType
AT_hook 26 38 1.26e-1 SMART
AT_hook 46 58 1.86e0 SMART
AT_hook 74 86 1.61e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161511
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for null mutations exhibit proportionate dwarfing with a significant reduction in body weight, reduced amounts of fat tissue, and infertility in both sexes. Mutants have normal growth hormone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,790,066 (GRCm39) T97S probably benign Het
Adam34 T A 8: 44,103,836 (GRCm39) D603V probably benign Het
Adamts5 C T 16: 85,659,716 (GRCm39) V859I probably benign Het
Alb T A 5: 90,620,499 (GRCm39) D536E possibly damaging Het
Amz2 A G 11: 109,319,860 (GRCm39) Y82C probably damaging Het
Asxl1 T C 2: 153,233,744 (GRCm39) probably null Het
Bach1 C T 16: 87,516,745 (GRCm39) Q429* probably null Het
Bcl6 A G 16: 23,793,615 (GRCm39) Y111H probably damaging Het
Ccnj T C 19: 40,834,451 (GRCm39) V338A probably benign Het
Cdca3 C T 6: 124,809,382 (GRCm39) P174L probably damaging Het
Cdk17 T C 10: 93,047,827 (GRCm39) L25P probably damaging Het
Cdr2 G A 7: 120,581,351 (GRCm39) probably null Het
Cyp2c38 A T 19: 39,380,737 (GRCm39) probably null Het
Ednra T C 8: 78,415,723 (GRCm39) N175D probably damaging Het
Elp3 T C 14: 65,797,660 (GRCm39) Y337C probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eps15l1 A T 8: 73,122,554 (GRCm39) probably null Het
F11r A G 1: 171,288,508 (GRCm39) N117S probably benign Het
Foxp2 C T 6: 15,437,947 (GRCm39) T716I probably damaging Het
Gnaq A G 19: 16,293,377 (GRCm39) probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr158 T C 2: 21,831,099 (GRCm39) M733T probably damaging Het
Hdac7 G A 15: 97,709,387 (GRCm39) Q48* probably null Het
Itgb7 A G 15: 102,132,886 (GRCm39) V142A probably benign Het
Kif5a T C 10: 127,078,644 (GRCm39) N334D probably damaging Het
Lrrc47 T C 4: 154,100,317 (GRCm39) S298P probably benign Het
Map3k1 A T 13: 111,887,064 (GRCm39) S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 (GRCm39) L424Q probably damaging Het
Numb A C 12: 83,850,748 (GRCm39) L154R probably damaging Het
Or8g27 T C 9: 39,129,274 (GRCm39) V207A probably benign Het
Or8k30 A G 2: 86,339,381 (GRCm39) K193E probably benign Het
Pdcd5 G T 7: 35,346,334 (GRCm39) A92E possibly damaging Het
Pdcl2 C T 5: 76,478,855 (GRCm39) probably null Het
Rbfa T C 18: 80,235,996 (GRCm39) Y251C probably damaging Het
Rgsl1 G A 1: 153,703,291 (GRCm39) T120I possibly damaging Het
Serpina3g A G 12: 104,206,655 (GRCm39) Q152R probably null Het
Setx T C 2: 29,063,570 (GRCm39) S2289P probably damaging Het
Slc6a16 A G 7: 44,907,017 (GRCm39) probably null Het
Slco1a6 C T 6: 142,055,105 (GRCm39) D280N probably benign Het
Syde2 T A 3: 145,704,568 (GRCm39) Y240N probably damaging Het
Synpo2 G A 3: 122,906,698 (GRCm39) Q873* probably null Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Ttc16 C T 2: 32,657,561 (GRCm39) A512T probably damaging Het
Tubb5 T C 17: 36,148,938 (GRCm39) E3G probably damaging Het
Vmn2r112 T C 17: 22,824,136 (GRCm39) Y464H probably damaging Het
Xcr1 T A 9: 123,684,847 (GRCm39) H305L probably damaging Het
Yars1 T G 4: 129,090,771 (GRCm39) probably null Het
Other mutations in Hmga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4332:Hmga2 UTSW 10 120,200,117 (GRCm39) utr 3 prime probably benign
R4395:Hmga2 UTSW 10 120,311,956 (GRCm39) missense probably damaging 1.00
R5780:Hmga2 UTSW 10 120,298,583 (GRCm39) nonsense probably null
R6823:Hmga2 UTSW 10 120,311,929 (GRCm39) missense possibly damaging 0.88
R8944:Hmga2 UTSW 10 120,309,159 (GRCm39) missense probably damaging 0.99
Z1176:Hmga2 UTSW 10 120,206,576 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GACTTTGCCGATTTGTAATCAGC -3'
(R):5'- CTGGTAAAGAGTGCTTGCAGTC -3'

Sequencing Primer
(F):5'- GCCGATTTGTAATCAGCTAGTTTC -3'
(R):5'- TAAAGAGTGCTTGCAGTCCCCTG -3'
Posted On 2018-05-04