Incidental Mutation 'R5383:Abl2'
ID 424825
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 042958-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R5383 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 156386356-156477138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 156469802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 918 (G918E)
Ref Sequence ENSEMBL: ENSMUSP00000126181 (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: G1022E

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: G1022E

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 possibly damaging
Transcript: ENSMUST00000166172
AA Change: G918E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: G918E

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
Meta Mutation Damage Score 0.1337 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,211,532 (GRCm39) Y227F possibly damaging Het
Aadac T C 3: 59,943,496 (GRCm39) probably benign Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Adck1 T C 12: 88,422,373 (GRCm39) V328A probably benign Het
Ano6 A G 15: 95,813,918 (GRCm39) I279V probably benign Het
AW551984 T A 9: 39,501,994 (GRCm39) Y704F probably benign Het
C1s1 T C 6: 124,511,360 (GRCm39) D321G probably damaging Het
Cacna1d T A 14: 29,767,236 (GRCm39) D1910V possibly damaging Het
Cdh5 A G 8: 104,864,479 (GRCm39) Q480R probably benign Het
Cdhr1 C T 14: 36,810,964 (GRCm39) V266M possibly damaging Het
Cdk5rap1 A T 2: 154,192,755 (GRCm39) V414D possibly damaging Het
Ctdnep1 T A 11: 69,875,222 (GRCm39) probably benign Het
Cyfip2 T C 11: 46,168,918 (GRCm39) M212V possibly damaging Het
D130043K22Rik G A 13: 25,041,397 (GRCm39) S273N probably benign Het
Ddi2 A G 4: 141,412,163 (GRCm39) S250P probably damaging Het
Dennd1b A G 1: 139,095,409 (GRCm39) T486A probably benign Het
Disc1 A G 8: 125,862,196 (GRCm39) T523A probably damaging Het
Dmbx1 A G 4: 115,775,342 (GRCm39) S313P probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnah11 T C 12: 118,049,432 (GRCm39) E1664G probably damaging Het
Dpysl3 A T 18: 43,571,103 (GRCm39) V57E probably damaging Het
Fam98a C T 17: 75,845,576 (GRCm39) G390E unknown Het
Hook3 C A 8: 26,609,017 (GRCm39) R9L probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Impg2 A G 16: 56,063,989 (GRCm39) D298G probably benign Het
Inf2 T A 12: 112,566,579 (GRCm39) V48D probably damaging Het
Itprid1 T A 6: 55,955,275 (GRCm39) L961H probably benign Het
Kcnh1 G A 1: 192,187,999 (GRCm39) G820D probably benign Het
Lsm14a C T 7: 34,088,789 (GRCm39) A39T possibly damaging Het
Muc2 T C 7: 141,307,456 (GRCm39) C804R probably damaging Het
Nim1k C T 13: 120,189,335 (GRCm39) V25M probably benign Het
Or11g25 T A 14: 50,723,509 (GRCm39) L198* probably null Het
Or4a73 T C 2: 89,421,457 (GRCm39) M1V probably null Het
Or5b122 T A 19: 13,563,439 (GRCm39) M257K probably damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf8-ps T C 17: 33,284,231 (GRCm39) D857G probably benign Het
Pitrm1 T A 13: 6,627,468 (GRCm39) H856Q probably damaging Het
Pkd1 T C 17: 24,793,349 (GRCm39) C1679R probably benign Het
Pkp4 T A 2: 59,140,617 (GRCm39) L441* probably null Het
Ppp4r4 T C 12: 103,550,427 (GRCm39) F284L probably benign Het
Ptprt T A 2: 161,539,969 (GRCm39) K769M probably damaging Het
Rbm12 G T 2: 155,945,285 (GRCm39) probably benign Het
Rpf1 T C 3: 146,225,146 (GRCm39) D94G possibly damaging Het
Scap G T 9: 110,203,597 (GRCm39) K310N probably damaging Het
Smpd2 C T 10: 41,364,698 (GRCm39) probably benign Het
Sp110 TC TCC 1: 85,519,290 (GRCm39) probably null Het
Specc1l T A 10: 75,082,539 (GRCm39) I662N possibly damaging Het
Sptan1 T A 2: 29,901,340 (GRCm39) V1496D probably damaging Het
Srrm4 T C 5: 116,609,319 (GRCm39) probably benign Het
Taf2 A G 15: 54,912,815 (GRCm39) I515T possibly damaging Het
Tdrd3 C T 14: 87,718,227 (GRCm39) Q203* probably null Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Tmem43 G A 6: 91,450,872 (GRCm39) A2T probably benign Het
Trav9-1 T A 14: 53,725,833 (GRCm39) I49N probably benign Het
Trim23 T G 13: 104,335,205 (GRCm39) N410K probably damaging Het
Ttbk1 T C 17: 46,778,342 (GRCm39) T567A probably damaging Het
Unc79 A G 12: 103,070,886 (GRCm39) N1081S possibly damaging Het
Zfp451 A C 1: 33,852,887 (GRCm39) I9R probably damaging Het
Zfp563 T A 17: 33,323,681 (GRCm39) M92K probably benign Het
Zfp618 G A 4: 63,013,729 (GRCm39) G198D probably benign Het
Zfp637 G T 6: 117,820,270 (GRCm39) probably benign 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
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
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'- AGGTCACATCCTCTGGAGAC -3'
(R):5'- TGATTGCACTGGACAGTAGGTC -3'

Sequencing Primer
(F):5'- ATCCTCTGGAGACAAGGACCG -3'
(R):5'- ACAGTAGGTCGGCACACTC -3'
Posted On 2016-08-04