Incidental Mutation 'R8932:Abl2'
| ID |
680346 |
| 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 |
068776-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
R8932 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156461402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 435
(T435A)
|
| 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: T435A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: T435A
| 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: T435A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: T435A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,629,693 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Ass1 |
T |
A |
2: 31,382,387 (GRCm39) |
M186K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,507,182 (GRCm39) |
D312G |
probably benign |
Het |
| Btg3 |
T |
A |
16: 78,170,298 (GRCm39) |
N3I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,294,882 (GRCm39) |
F649L |
probably damaging |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,110,780 (GRCm39) |
V27E |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,580,665 (GRCm39) |
S1512T |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,217,623 (GRCm39) |
T79A |
probably benign |
Het |
| Defa24 |
T |
C |
8: 22,225,373 (GRCm39) |
Y88H |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,769,915 (GRCm39) |
R389Q |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,718 (GRCm39) |
D796E |
probably damaging |
Het |
| Dyrk3 |
G |
T |
1: 131,057,293 (GRCm39) |
D293E |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,854,767 (GRCm39) |
D606G |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,453,844 (GRCm39) |
G18S |
probably benign |
Het |
| Fam8a1 |
C |
T |
13: 46,827,868 (GRCm39) |
T352M |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,835 (GRCm39) |
L52Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,910,819 (GRCm39) |
H1728Y |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,662,868 (GRCm39) |
V39A |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,030 (GRCm39) |
V484A |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,842,571 (GRCm39) |
Q492R |
possibly damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,318 (GRCm39) |
H36R |
possibly damaging |
Het |
| Insyn2a |
A |
G |
7: 134,500,881 (GRCm39) |
I408T |
probably damaging |
Het |
| Insyn2b |
T |
C |
11: 34,352,707 (GRCm39) |
S250P |
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,798,513 (GRCm39) |
I214V |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,544,010 (GRCm39) |
P853L |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,822,022 (GRCm39) |
T746A |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,300,628 (GRCm39) |
S1469P |
possibly damaging |
Het |
| Mrps30 |
C |
T |
13: 118,523,695 (GRCm39) |
A26T |
probably benign |
Het |
| Mup10 |
T |
A |
4: 60,536,708 (GRCm39) |
T92S |
possibly damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,239 (GRCm39) |
D514G |
possibly damaging |
Het |
| Pacs1 |
T |
A |
19: 5,185,030 (GRCm39) |
S932C |
probably damaging |
Het |
| Pbx2 |
C |
T |
17: 34,813,563 (GRCm39) |
R188C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,762,989 (GRCm39) |
P536S |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,672,269 (GRCm39) |
I377N |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,789,041 (GRCm39) |
K758E |
possibly damaging |
Het |
| Pramel34 |
T |
G |
5: 93,785,944 (GRCm39) |
D112A |
probably benign |
Het |
| Ptprm |
C |
T |
17: 67,263,846 (GRCm39) |
R467H |
probably benign |
Het |
| Rbm12b1 |
C |
T |
4: 12,145,689 (GRCm39) |
R554C |
probably benign |
Het |
| Scnn1b |
C |
T |
7: 121,502,067 (GRCm39) |
R242C |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,908,134 (GRCm39) |
S19P |
possibly damaging |
Het |
| Slc28a1 |
T |
A |
7: 80,817,715 (GRCm39) |
V528D |
probably benign |
Het |
| Slc6a17 |
G |
T |
3: 107,379,507 (GRCm39) |
Q554K |
probably benign |
Het |
| Spag16 |
G |
A |
1: 70,338,928 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,890,015 (GRCm39) |
E184K |
possibly damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,623,117 (GRCm39) |
N377K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,304,895 (GRCm39) |
S296P |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,740,359 (GRCm39) |
I1178F |
probably damaging |
Het |
| Tomt |
C |
T |
7: 101,550,350 (GRCm39) |
A139T |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,974,967 (GRCm39) |
Q75R |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,583,468 (GRCm39) |
K58E |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,834,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,998 (GRCm39) |
T149A |
probably benign |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,127 (GRCm39) |
V96M |
probably benign |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,666 (GRCm39) |
I247N |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,932,241 (GRCm39) |
C138R |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,940,226 (GRCm39) |
V837E |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,312,707 (GRCm39) |
H59Y |
possibly damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,568,434 (GRCm39) |
D883E |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,368 (GRCm39) |
D187E |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,442 (GRCm39) |
V148A |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,780,692 (GRCm39) |
D180G |
possibly 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 |
|
|
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 |
|
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'- TTACCAGCTTTGCCTGCAGC -3'
(R):5'- TAATCTAGCGAACACCTGGCC -3'
Sequencing Primer
(F):5'- GCCTGCAGCAGAGAACC -3'
(R):5'- ACCTGGCCAGCCATAGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation