Incidental Mutation 'R4224:Abl2'
| ID |
319948 |
| 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 |
041044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R4224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156461417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 440
(T440A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027888]
[ENSMUST00000166172]
[ENSMUST00000190749]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027888
AA Change: T440A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: T440A
| 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 benign
Transcript: ENSMUST00000166172
AA Change: T440A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: T440A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190749
|
| SMART Domains |
Protein: ENSMUSP00000140125
Gene: ENSMUSG00000026596
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
103 |
159 |
6.2e-18 |
SMART |
|
SH2
|
164 |
247 |
8.4e-36 |
SMART |
|
| Meta Mutation Damage Score |
0.2006 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
95% (42/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
| Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
| Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
| Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
| Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
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 |
|
|
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'- TTACCAGCTTTGCCTGCAG -3'
(R):5'- CTAATCTAGCGAACACCTGGC -3'
Sequencing Primer
(F):5'- GCCTGCAGCAGAGAACC -3'
(R):5'- ACCTGGCCAGCCATAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation