Incidental Mutation 'IGL01679:Abl2'
ID 103743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abl2
Ensembl Gene ENSMUSG00000026596
Gene Name ABL proto-oncogene 2, non-receptor tyrosine kinase
Synonyms Abll, Arg
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # IGL01679
Quality Score
Status
Chromosome 1
Chromosomal Location 156386356-156477138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156470035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1100 (I1100V)
Ref Sequence ENSEMBL: ENSMUSP00000027888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027888
AA Change: I1100V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: I1100V

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
SH3 110 166 9.83e-16 SMART
SH2 171 254 1.34e-33 SMART
TyrKc 288 539 2.53e-148 SMART
low complexity region 561 577 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 734 752 N/A INTRINSIC
low complexity region 877 891 N/A INTRINSIC
low complexity region 974 991 N/A INTRINSIC
low complexity region 1036 1049 N/A INTRINSIC
FABD 1061 1182 5.24e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166172
AA Change: I996V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: I996V

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
SH3 110 166 9.83e-16 SMART
SH2 171 254 1.34e-33 SMART
TyrKc 288 539 2.53e-148 SMART
low complexity region 561 577 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 773 787 N/A INTRINSIC
low complexity region 870 887 N/A INTRINSIC
low complexity region 932 945 N/A INTRINSIC
FABD 957 1078 5.24e-65 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display multiple behavioral abnormalities indicating neuronal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,248,071 (GRCm39) M2606K probably benign Het
Atp2a1 T C 7: 126,055,981 (GRCm39) N280S probably benign Het
Car8 G A 4: 8,169,674 (GRCm39) T278I possibly damaging Het
Catsperb G A 12: 101,557,841 (GRCm39) probably null Het
Cfap47 A G X: 78,376,439 (GRCm39) Y266H probably damaging Het
Cilk1 T C 9: 78,047,307 (GRCm39) I69T possibly damaging Het
Cmya5 T C 13: 93,201,828 (GRCm39) E3378G probably damaging Het
Ctsq C T 13: 61,186,722 (GRCm39) G94D probably benign Het
Entpd8 A G 2: 24,974,378 (GRCm39) K388E probably benign Het
Gab1 C T 8: 81,518,178 (GRCm39) A145T probably benign Het
Gbp9 T C 5: 105,233,038 (GRCm39) probably null Het
Gm6685 T C 11: 28,289,586 (GRCm39) T77A possibly damaging Het
Miga2 A G 2: 30,268,262 (GRCm39) K387R probably benign Het
Myo1g A G 11: 6,468,006 (GRCm39) V143A possibly damaging Het
Pi4ka A G 16: 17,114,752 (GRCm39) probably benign Het
Plekhg6 T C 6: 125,351,942 (GRCm39) T201A probably benign Het
Pxdn T C 12: 30,049,901 (GRCm39) S650P probably damaging Het
Rplp2 T G 7: 141,028,679 (GRCm39) I55S probably damaging Het
Sdk1 A G 5: 142,031,919 (GRCm39) D998G probably benign Het
Slc13a2 C A 11: 78,295,537 (GRCm39) A110S probably damaging Het
Slc38a2 A T 15: 96,595,835 (GRCm39) Y94* probably null Het
Smarcc1 A G 9: 110,042,598 (GRCm39) R889G probably damaging Het
Tie1 T C 4: 118,339,936 (GRCm39) T364A probably benign Het
Zfp655 A G 5: 145,180,637 (GRCm39) E165G probably damaging Het
Other mutations in Abl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Abl2 APN 1 156,462,754 (GRCm39) missense probably damaging 1.00
IGL02289:Abl2 APN 1 156,457,424 (GRCm39) missense probably damaging 1.00
PIT4495001:Abl2 UTSW 1 156,460,755 (GRCm39) missense probably damaging 1.00
R0907:Abl2 UTSW 1 156,457,429 (GRCm39) missense probably damaging 1.00
R1232:Abl2 UTSW 1 156,469,300 (GRCm39) missense probably damaging 1.00
R2069:Abl2 UTSW 1 156,448,397 (GRCm39) splice site probably null
R4224:Abl2 UTSW 1 156,461,417 (GRCm39) missense probably damaging 0.98
R4305:Abl2 UTSW 1 156,469,133 (GRCm39) missense probably damaging 0.99
R4411:Abl2 UTSW 1 156,457,652 (GRCm39) missense possibly damaging 0.86
R4490:Abl2 UTSW 1 156,461,349 (GRCm39) missense probably damaging 1.00
R5132:Abl2 UTSW 1 156,469,402 (GRCm39) nonsense probably null
R5383:Abl2 UTSW 1 156,469,802 (GRCm39) missense possibly damaging 0.89
R5428:Abl2 UTSW 1 156,469,681 (GRCm39) missense probably damaging 1.00
R5436:Abl2 UTSW 1 156,457,450 (GRCm39) missense probably damaging 1.00
R5760:Abl2 UTSW 1 156,469,427 (GRCm39) missense probably benign 0.06
R6051:Abl2 UTSW 1 156,469,655 (GRCm39) missense probably damaging 1.00
R6955:Abl2 UTSW 1 156,450,219 (GRCm39) missense probably damaging 1.00
R7002:Abl2 UTSW 1 156,386,703 (GRCm39) missense probably damaging 1.00
R7038:Abl2 UTSW 1 156,468,979 (GRCm39) missense possibly damaging 0.95
R7172:Abl2 UTSW 1 156,450,157 (GRCm39) missense probably damaging 1.00
R7268:Abl2 UTSW 1 156,461,509 (GRCm39) critical splice donor site probably null
R7282:Abl2 UTSW 1 156,457,630 (GRCm39) missense probably damaging 1.00
R7303:Abl2 UTSW 1 156,468,820 (GRCm39) missense probably benign 0.00
R7372:Abl2 UTSW 1 156,450,189 (GRCm39) missense probably damaging 1.00
R7375:Abl2 UTSW 1 156,450,184 (GRCm39) missense probably damaging 1.00
R7443:Abl2 UTSW 1 156,452,951 (GRCm39) missense probably damaging 1.00
R7468:Abl2 UTSW 1 156,450,104 (GRCm39) missense possibly damaging 0.68
R7614:Abl2 UTSW 1 156,464,429 (GRCm39) missense possibly damaging 0.71
R7644:Abl2 UTSW 1 156,443,563 (GRCm39) missense probably benign 0.08
R7783:Abl2 UTSW 1 156,386,641 (GRCm39) missense probably benign
R8158:Abl2 UTSW 1 156,469,639 (GRCm39) missense probably benign 0.00
R8675:Abl2 UTSW 1 156,452,909 (GRCm39) missense probably damaging 1.00
R8930:Abl2 UTSW 1 156,461,402 (GRCm39) missense probably damaging 0.98
R8932:Abl2 UTSW 1 156,461,402 (GRCm39) missense probably damaging 0.98
R9217:Abl2 UTSW 1 156,452,902 (GRCm39) missense probably damaging 1.00
R9262:Abl2 UTSW 1 156,469,820 (GRCm39) missense possibly damaging 0.93
R9290:Abl2 UTSW 1 156,457,538 (GRCm39) missense probably damaging 1.00
R9571:Abl2 UTSW 1 156,469,084 (GRCm39) missense probably damaging 0.99
X0067:Abl2 UTSW 1 156,459,003 (GRCm39) splice site probably null
Z1177:Abl2 UTSW 1 156,469,123 (GRCm39) frame shift probably null
Z1177:Abl2 UTSW 1 156,468,676 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21