Incidental Mutation 'R7002:Abl2'
ID 568480
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 045107-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R7002 (G1)
Quality Score 60.0073
Status Validated
Chromosome 1
Chromosomal Location 156386356-156477138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156386703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 29 (R29W)
Ref Sequence ENSEMBL: ENSMUSP00000133381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172] [ENSMUST00000173929]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027888
AA Change: R29W

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: R29W

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: R29W

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: R29W

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 damaging
Transcript: ENSMUST00000173929
AA Change: R29W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133381
Gene: ENSMUSG00000026596
AA Change: R29W

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
SH3 89 139 4.35e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Aoc1 A G 6: 48,882,810 (GRCm39) S229G probably benign Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Cplx1 T A 5: 108,668,182 (GRCm39) K58M probably damaging Het
Crybg1 T A 10: 43,874,831 (GRCm39) D759V probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igfbp2 C T 1: 72,888,804 (GRCm39) H85Y probably damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Or8k40 T C 2: 86,585,025 (GRCm39) D19G probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably 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
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
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'- AAGGAGAGTCTGTGAGTCGCTG -3'
(R):5'- ATAGCAGGACAGTCAAGCCTG -3'

Sequencing Primer
(F):5'- TGAGTCGCTGGGAGGCAG -3'
(R):5'- TCAAGCCTGGGTCCCTAAGAC -3'
Posted On 2019-08-05