Incidental Mutation 'R4490:Abl2'
| ID |
330661 |
| 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 |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156461349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 417
(V417A)
|
| 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: V417A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: V417A
| 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: V417A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: V417A
| 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 |
0.7969 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
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 |
|
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'- CTCCTGGTGGGTATTCAGTACATG -3'
(R):5'- AATCTAGCGAACACCTGGCC -3'
Sequencing Primer
(F):5'- ATTAGTAAGTTTCTACGATGTTGGTG -3'
(R):5'- GTAAGAAATTATGTCAACCTTACCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation