Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Abl2'

577065

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

045519-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156386356-156477138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156452951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 162 (I162T)

Ref Sequence

ENSEMBL: ENSMUSP00000027888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172] [ENSMUST00000173929] [ENSMUST00000190749]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027888
AA Change: I162T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: I162T

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: I162T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: I162T

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: ENSMUST00000173929

SMART Domains

Protein: ENSMUSP00000133381
Gene: ENSMUSG00000026596

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
SH3	89	139	4.35e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190749
AA Change: I155T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140125
Gene: ENSMUSG00000026596
AA Change: I155T

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: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,206,619 (GRCm39)	S1493N	probably benign	Het
Arf2	T	A	11: 103,859,976 (GRCm39)	M18K	probably benign	Het
Bag5	A	G	12: 111,677,161 (GRCm39)	S221P	probably damaging	Het
Bcr	T	C	10: 74,978,968 (GRCm39)		probably null	Het
Btg2	T	A	1: 134,005,433 (GRCm39)	K51*	probably null	Het
Chrne	A	G	11: 70,509,092 (GRCm39)	V130A	probably benign	Het
Cracd	T	C	5: 77,004,485 (GRCm39)	V282A	unknown	Het
Cubn	T	A	2: 13,460,320 (GRCm39)	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,105,756 (GRCm39)	I153F	probably damaging	Het
Dph7	C	A	2: 24,852,505 (GRCm39)	H5Q	probably benign	Het
Epha6	T	C	16: 59,595,988 (GRCm39)	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,607,990 (GRCm39)	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,355,038 (GRCm39)	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,478,816 (GRCm39)		probably null	Het
Gm3264	A	T	14: 16,058,304 (GRCm39)	Y37F	probably damaging	Het
H2-M10.2	T	A	17: 36,596,945 (GRCm39)	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145 (GRCm39)	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,400,932 (GRCm39)	I184V	probably benign	Het
Ighe	G	T	12: 113,235,785 (GRCm39)	C180*	probably null	Het
Iigp1c	A	T	18: 60,379,122 (GRCm39)	N219I	probably benign	Het
Klk1b22	T	A	7: 43,765,534 (GRCm39)	I162K	probably benign	Het
Lmo3	C	T	6: 138,354,220 (GRCm39)	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,053,263 (GRCm39)	V263A	probably benign	Het
Ltbp1	T	C	17: 75,671,432 (GRCm39)	Y1538H	probably damaging	Het
Ly6g6g	T	C	15: 74,647,249 (GRCm39)	E32G		Het
Map9	A	G	3: 82,278,663 (GRCm39)	E221G	possibly damaging	Het
Mccc2	G	A	13: 100,130,144 (GRCm39)	A71V	possibly damaging	Het
Mdc1	T	A	17: 36,161,712 (GRCm39)	V875E	probably damaging	Het
Mier2	A	T	10: 79,376,289 (GRCm39)	I212N	unknown	Het
Mitd1	T	C	1: 37,920,117 (GRCm39)	T164A	probably benign	Het
Myh1	T	C	11: 67,111,331 (GRCm39)	I1590T	probably benign	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,652 (GRCm39)	V118E	probably benign	Het
Nynrin	G	A	14: 56,108,873 (GRCm39)	V1327I	probably benign	Het
Oas1c	C	A	5: 120,943,484 (GRCm39)	K218N	probably damaging	Het
Or11g24	A	G	14: 50,662,507 (GRCm39)	D177G	probably damaging	Het
Or13a18	A	G	7: 140,190,961 (GRCm39)	N286S	probably damaging	Het
Or1e23	A	T	11: 73,407,674 (GRCm39)	V117D	possibly damaging	Het
Or4a80	T	A	2: 89,582,285 (GRCm39)	M296L	probably benign	Het
Or5g26	T	A	2: 85,493,912 (GRCm39)	I289F	probably damaging	Het
Or5h17	T	A	16: 58,820,353 (GRCm39)	F102I	probably damaging	Het
Otoa	A	T	7: 120,731,633 (GRCm39)	M618L	probably benign	Het
P3r3urf	G	A	4: 116,030,664 (GRCm39)	G23R	probably benign	Het
Plcg2	A	T	8: 118,231,028 (GRCm39)	T37S	probably benign	Het
Plekhg4	T	C	8: 106,107,499 (GRCm39)	L1010P	probably damaging	Het
Plxnb1	T	C	9: 108,943,675 (GRCm39)	F1921L	probably damaging	Het
Prss47	T	A	13: 65,197,303 (GRCm39)	K144N	probably damaging	Het
Rapgef2	T	C	3: 78,988,531 (GRCm39)	K953E	probably damaging	Het
Rasip1	T	A	7: 45,288,148 (GRCm39)	I909N	probably damaging	Het
Rps5	A	G	7: 12,656,922 (GRCm39)	T8A	probably benign	Het
Rsbn1l	T	C	5: 21,132,621 (GRCm39)	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,809,700 (GRCm39)	F369L	probably benign	Het
Slc4a5	T	C	6: 83,241,297 (GRCm39)	V306A	probably benign	Het
Sox13	T	C	1: 133,312,369 (GRCm39)	Y465C	probably damaging	Het
Sox13	C	A	1: 133,312,311 (GRCm39)	K484N	probably damaging	Het
Stx3	A	G	19: 11,769,208 (GRCm39)	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 51,273,763 (GRCm39)	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,514,480 (GRCm39)	Q429L	probably benign	Het
Tns3	G	A	11: 8,401,442 (GRCm39)	T952I	probably benign	Het
Trib3	T	C	2: 152,181,692 (GRCm39)	H176R	possibly damaging	Het
Trim12a	A	G	7: 103,950,049 (GRCm39)	Y297H	probably damaging	Het
Unc13a	A	G	8: 72,083,603 (GRCm39)	V1577A	probably damaging	Het
Vezf1	C	A	11: 87,965,489 (GRCm39)	P244T	probably damaging	Het
Vmn1r121	T	A	7: 20,831,945 (GRCm39)	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,679,107 (GRCm39)	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,679,319 (GRCm39)	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,308,588 (GRCm39)	M550K	probably damaging	Het
Wdr6	A	G	9: 108,451,489 (GRCm39)	L798P	probably damaging	Het
Wtap	C	T	17: 13,199,821 (GRCm39)	G54D	probably benign	Het
Zfp827	A	G	8: 79,917,047 (GRCm39)	S541G		Het
Zkscan3	A	T	13: 21,572,608 (GRCm39)	Y341*	probably null	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
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'- ATTTGCAGTTTGACACTACACTGC -3'
(R):5'- GAGCCAGTCCACATGAACAG -3'

Sequencing Primer
(F):5'- AGTTTGACACTACACTGCTGCAG -3'
(R):5'- GTCCACATGAACAGGTCTTACC -3'

Posted On

2019-10-07