Incidental Mutation 'R7031:Ing2'
ID 546326
Institutional Source Beutler Lab
Gene Symbol Ing2
Ensembl Gene ENSMUSG00000063049
Gene Name inhibitor of growth family, member 2
Synonyms 2810011M06Rik, Ing1l, ING2, P33ING2
MMRRC Submission 045132-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 48120213-48128591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48121858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 230 (D230G)
Ref Sequence ENSEMBL: ENSMUSP00000079226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080353]
AlphaFold Q9ESK4
PDB Structure Solution structure of PHD domain in inhibitor of growth family, member 1-like [SOLUTION NMR]
Crystal structure of ING2 PHD finger in complex with H3K4Me3 peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000080353
AA Change: D230G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: D230G

DomainStartEndE-ValueType
Pfam:ING 28 126 2e-26 PFAM
low complexity region 143 162 N/A INTRINSIC
low complexity region 180 201 N/A INTRINSIC
PHD 215 260 5.1e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes impaired spermatogenesis and male infertility associated with teratozoospermia, seminiferous tubule degeneration, germ cell depletion, arrest of male meiosis and enhanced testicular apoptosis, and leads to an increased incidence of soft tissue sarcomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Cuzd1 A T 7: 130,910,580 (GRCm39) F572I probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dhx15 T C 5: 52,341,931 (GRCm39) D129G probably benign Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epha5 T C 5: 84,290,159 (GRCm39) I428V probably benign Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Ly96 A T 1: 16,758,787 (GRCm39) E19V possibly damaging Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign Het
Other mutations in Ing2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Ing2 APN 8 48,122,296 (GRCm39) missense possibly damaging 0.92
IGL01791:Ing2 APN 8 48,122,070 (GRCm39) missense probably benign 0.02
IGL02477:Ing2 APN 8 48,122,303 (GRCm39) missense possibly damaging 0.95
PIT4418001:Ing2 UTSW 8 48,122,125 (GRCm39) missense probably benign 0.03
R0315:Ing2 UTSW 8 48,122,125 (GRCm39) missense probably benign 0.06
R1793:Ing2 UTSW 8 48,122,364 (GRCm39) missense probably damaging 1.00
R5521:Ing2 UTSW 8 48,122,248 (GRCm39) missense probably damaging 1.00
R5759:Ing2 UTSW 8 48,122,040 (GRCm39) missense possibly damaging 0.71
R5821:Ing2 UTSW 8 48,121,861 (GRCm39) missense probably benign 0.32
R6222:Ing2 UTSW 8 48,121,966 (GRCm39) missense possibly damaging 0.95
R6378:Ing2 UTSW 8 48,122,293 (GRCm39) missense probably benign 0.32
R7243:Ing2 UTSW 8 48,127,574 (GRCm39) missense probably damaging 0.98
R7819:Ing2 UTSW 8 48,122,063 (GRCm39) missense probably damaging 1.00
R9080:Ing2 UTSW 8 48,121,808 (GRCm39) missense possibly damaging 0.82
R9386:Ing2 UTSW 8 48,127,561 (GRCm39) missense probably benign 0.03
R9757:Ing2 UTSW 8 48,128,075 (GRCm39) start gained probably benign
X0036:Ing2 UTSW 8 48,127,542 (GRCm39) missense probably null 0.94
Predicted Primers PCR Primer
(F):5'- AAACCGATGGCCTTCACTAC -3'
(R):5'- TCCAGTCAACCGGAAAGATC -3'

Sequencing Primer
(F):5'- GATGGCCTTCACTACCTCGC -3'
(R):5'- CCAGTGAGAGCCGTGACTTATGTC -3'
Posted On 2019-05-13