Incidental Mutation 'IGL02289:Abl2'
ID290030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abl2
Ensembl Gene ENSMUSG00000026596
Gene Namev-abl Abelson murine leukemia viral oncogene 2 (arg, Abelson-related gene)
SynonymsAbll, Arg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.392) question?
Stock #IGL02289
Quality Score
Status
Chromosome1
Chromosomal Location156558786-156649568 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 156629854 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 230 (V230E)
Ref Sequence ENSEMBL: ENSMUSP00000027888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172] [ENSMUST00000173929] [ENSMUST00000190749]
Predicted Effect probably damaging
Transcript: ENSMUST00000027888
AA Change: V230E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: V230E

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 damaging
Transcript: ENSMUST00000166172
AA Change: V230E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: V230E

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
Predicted Effect probably benign
Transcript: ENSMUST00000173929
SMART Domains Protein: ENSMUSP00000133381
Gene: ENSMUSG00000026596

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
SH3 89 139 4.35e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190749
AA Change: V223E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140125
Gene: ENSMUSG00000026596
AA Change: V223E

DomainStartEndE-ValueType
SH3 103 159 6.2e-18 SMART
SH2 164 247 8.4e-36 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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnajc10 C A 2: 80,340,526 H454N probably damaging Het
Dsel C T 1: 111,860,102 W901* probably null Het
Fam102a A T 2: 32,566,355 Q343L possibly damaging Het
Frk A C 10: 34,484,366 E121A probably damaging Het
Mapk7 G T 11: 61,489,959 probably null Het
Matn1 A T 4: 130,951,835 probably benign Het
Nup155 T C 15: 8,131,493 L554P probably damaging Het
Olfr1079 A T 2: 86,538,448 F156I probably benign Het
Olfr1084 A G 2: 86,639,519 L63P probably damaging Het
Olfr1535 C T 13: 21,555,588 V145I probably benign Het
Pdia2 T C 17: 26,197,890 E164G possibly damaging Het
Robo4 G A 9: 37,408,200 G582D probably damaging Het
Stat3 A T 11: 100,905,894 V110E possibly damaging Het
Trim42 G A 9: 97,359,233 R649C probably damaging Het
Vmn2r69 T A 7: 85,406,846 I695F probably damaging Het
Other mutations in Abl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Abl2 APN 1 156635184 missense probably damaging 1.00
IGL01679:Abl2 APN 1 156642465 missense probably benign 0.01
PIT4495001:Abl2 UTSW 1 156633185 missense probably damaging 1.00
R0907:Abl2 UTSW 1 156629859 missense probably damaging 1.00
R1232:Abl2 UTSW 1 156641730 missense probably damaging 1.00
R2069:Abl2 UTSW 1 156620827 splice site probably null
R4224:Abl2 UTSW 1 156633847 missense probably damaging 0.98
R4305:Abl2 UTSW 1 156641563 missense probably damaging 0.99
R4411:Abl2 UTSW 1 156630082 missense possibly damaging 0.86
R4490:Abl2 UTSW 1 156633779 missense probably damaging 1.00
R5132:Abl2 UTSW 1 156641832 nonsense probably null
R5383:Abl2 UTSW 1 156642232 missense possibly damaging 0.89
R5428:Abl2 UTSW 1 156642111 missense probably damaging 1.00
R5436:Abl2 UTSW 1 156629880 missense probably damaging 1.00
R5760:Abl2 UTSW 1 156641857 missense probably benign 0.06
R6051:Abl2 UTSW 1 156642085 missense probably damaging 1.00
R6955:Abl2 UTSW 1 156622649 missense probably damaging 1.00
R7002:Abl2 UTSW 1 156559133 missense probably damaging 1.00
R7038:Abl2 UTSW 1 156641409 missense possibly damaging 0.95
R7172:Abl2 UTSW 1 156622587 missense probably damaging 1.00
R7268:Abl2 UTSW 1 156633939 critical splice donor site probably null
R7282:Abl2 UTSW 1 156630060 missense probably damaging 1.00
R7303:Abl2 UTSW 1 156641250 missense probably benign 0.00
X0067:Abl2 UTSW 1 156631433 splice site probably null
Posted On2015-04-16