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)
|
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
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 |
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
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 |
0.1337 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |