Incidental Mutation 'R1232:Abl2'
ID 152314
Institutional Source Beutler Lab
Gene Symbol Abl2
Ensembl Gene ENSMUSG00000026596
Gene Name ABL proto-oncogene 2, non-receptor tyrosine kinase
Synonyms Abll, Arg
MMRRC Submission 039301-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R1232 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 156386356-156477138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156469300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 751 (L751M)
Ref Sequence ENSEMBL: ENSMUSP00000126181 (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: L855M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: L855M

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: L751M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: L751M

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
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.6%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap29 A G 3: 121,796,989 (GRCm39) D525G probably damaging Het
Ccdc168 T C 1: 44,095,752 (GRCm39) Y1782C possibly damaging Het
Ces2h T C 8: 105,741,287 (GRCm39) M93T probably benign Het
Cyp4a12b A T 4: 115,289,760 (GRCm39) D209V possibly damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Fbxo38 A G 18: 62,643,882 (GRCm39) V925A probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Gtf3c5 A G 2: 28,461,227 (GRCm39) W296R probably damaging Het
Ints8 A G 4: 11,234,587 (GRCm39) I415T possibly damaging Het
Krt1c A G 15: 101,720,219 (GRCm39) S513P probably damaging Het
Loxhd1 G A 18: 77,493,699 (GRCm39) probably null Het
Mfsd3 A G 15: 76,587,382 (GRCm39) Q355R probably damaging Het
Mms22l C T 4: 24,536,274 (GRCm39) T621I probably benign Het
Or8g54 G A 9: 39,707,264 (GRCm39) V198I probably benign Het
Pcdhb8 A G 18: 37,488,828 (GRCm39) N169D probably benign Het
Rnls T G 19: 33,180,046 (GRCm39) I135L probably benign Het
Sgsm1 G T 5: 113,421,577 (GRCm39) C558* probably null Het
Spata31d1c T A 13: 65,184,428 (GRCm39) C657S probably benign Het
Vmn2r15 T C 5: 109,441,168 (GRCm39) D230G probably benign Het
Zfp429 T C 13: 67,538,751 (GRCm39) Y231C possibly damaging Het
Other mutations in Abl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Abl2 APN 1 156,462,754 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGGCAATGACCCTTCCCAGGAAC -3'
(R):5'- TCTGTGCCAATGAGCTGCACATC -3'

Sequencing Primer
(F):5'- TTCCCAGGAACTGCCAGAG -3'
(R):5'- CTACAGCCTTGGCTGGAGAAG -3'
Posted On 2014-01-29