Incidental Mutation 'IGL01400:Abl2'
ID 79613
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 # IGL01400
Quality Score
Status
Chromosome 1
Chromosomal Location 156386356-156477138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 156462754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 510 (C510G)
Ref Sequence ENSEMBL: ENSMUSP00000027888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027888
AA Change: C510G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: C510G

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: C510G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: C510G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,960 (GRCm39) I133N probably damaging Het
Ambp T C 4: 63,070,959 (GRCm39) Y40C probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arfgef3 G A 10: 18,528,454 (GRCm39) A311V probably damaging Het
Cass4 A G 2: 172,269,220 (GRCm39) D434G probably damaging Het
Cep250 A C 2: 155,840,211 (GRCm39) T2390P possibly damaging Het
Cpm C A 10: 117,495,680 (GRCm39) N56K probably benign Het
Cspp1 T C 1: 10,156,156 (GRCm39) L455P probably damaging Het
Dcx T C X: 142,714,150 (GRCm39) K51E possibly damaging Het
Ehd3 T C 17: 74,135,089 (GRCm39) F322L probably benign Het
Ell A G 8: 71,031,563 (GRCm39) D87G probably damaging Het
Epor C T 9: 21,870,735 (GRCm39) probably null Het
Exosc10 T G 4: 148,649,728 (GRCm39) M386R probably damaging Het
Gpr152 T C 19: 4,193,626 (GRCm39) I389T probably benign Het
Gvin3 T A 7: 106,201,242 (GRCm39) E667D probably benign Het
Kmo T A 1: 175,482,661 (GRCm39) D328E possibly damaging Het
Llgl1 A G 11: 60,597,316 (GRCm39) H255R probably damaging Het
Lrch3 T A 16: 32,799,911 (GRCm39) H416Q probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mdm1 T G 10: 117,993,156 (GRCm39) H320Q probably damaging Het
Nol4 T A 18: 22,956,555 (GRCm39) H209L probably damaging Het
Or5p58 A T 7: 107,694,046 (GRCm39) C244S probably damaging Het
Pcdhac2 T C 18: 37,279,339 (GRCm39) V773A possibly damaging Het
Pde3a A G 6: 141,404,954 (GRCm39) N393S probably benign Het
Pik3r5 A G 11: 68,385,373 (GRCm39) K700R probably benign Het
Prob1 G A 18: 35,786,386 (GRCm39) R623C possibly damaging Het
Slc14a2 T C 18: 78,235,428 (GRCm39) N112D probably damaging Het
Snapc3 C T 4: 83,368,414 (GRCm39) P304S probably damaging Het
Spin2c T A X: 152,616,621 (GRCm39) W145R probably damaging Het
Tmem131l T C 3: 83,829,429 (GRCm39) E1075G probably damaging Het
Trip12 C T 1: 84,729,699 (GRCm39) R995Q probably damaging Het
Trpm6 T A 19: 18,803,158 (GRCm39) L867* probably null Het
Vmn1r87 T G 7: 12,866,230 (GRCm39) H19P probably damaging Het
Vps16 A G 2: 130,280,273 (GRCm39) E139G possibly damaging Het
Other mutations in Abl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01679:Abl2 APN 1 156,470,035 (GRCm39) missense probably benign 0.01
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 2013-11-05