Incidental Mutation 'R4305:Abl2'
| ID |
323986 |
| 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 |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156469133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 695
(M695K)
|
| 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: M799K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: M799K
| Domain | Start | End | E-Value | Type |
|---|
|
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: M695K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: M695K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.0651 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,391,991 (GRCm39) |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,211,633 (GRCm39) |
V98A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,639,118 (GRCm39) |
Y372N |
probably benign |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,346,883 (GRCm39) |
|
probably null |
Het |
| Garin1b |
A |
G |
6: 29,326,611 (GRCm39) |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,430,880 (GRCm39) |
E394G |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,476,381 (GRCm39) |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,780,168 (GRCm39) |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,689,827 (GRCm39) |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,438,836 (GRCm39) |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,367,936 (GRCm39) |
D657G |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,643 (GRCm39) |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,681 (GRCm39) |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,360 (GRCm39) |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,976 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,027,172 (GRCm39) |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,310,099 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GGAACCTCTGTGCTGATGATG -3'
(R):5'- GCTCCTCTGGGCAATAGTTTGG -3'
Sequencing Primer
(F):5'- ACCTCTGTGCTGATGATGACAGTG -3'
(R):5'- GCAATAGTTTGGCTTTTGGTCTCTCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation