Mutagenetix > Incidental Mutation

Incidental Mutation 'R9290:Abl2'

704183

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

R9290 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156386356-156477138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156457538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 268 (K268R)

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: K268R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: K268R

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: K268R

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: K268R

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

probably benign
Transcript: ENSMUST00000190749
AA Change: K261R

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140125
Gene: ENSMUSG00000026596
AA Change: K261R

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,338,330 (GRCm39)	D464G	probably damaging	Het
Adra1d	G	T	2: 131,403,898 (GRCm39)	T64K	probably benign	Het
Cct3	T	C	3: 88,216,536 (GRCm39)	V164A	probably benign	Het
Cdhr2	T	C	13: 54,882,009 (GRCm39)	V1153A	possibly damaging	Het
Cdkn2c	A	C	4: 109,518,512 (GRCm39)	Y147*	probably null	Het
Ces1g	A	T	8: 94,029,545 (GRCm39)	H562Q	probably benign	Het
Cfap221	A	G	1: 119,853,381 (GRCm39)	L771P	probably benign	Het
Chsy3	A	G	18: 59,542,928 (GRCm39)	M689V	probably benign	Het
Ciita	T	A	16: 10,326,513 (GRCm39)	S235T	probably damaging	Het
Cracdl	T	A	1: 37,663,634 (GRCm39)	R755W	probably damaging	Het
Dcdc2a	A	G	13: 25,386,313 (GRCm39)	K396E	probably benign	Het
Dgki	C	T	6: 37,276,780 (GRCm39)	C35Y	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnai7	T	C	6: 145,148,688 (GRCm39)	E57G	unknown	Het
Eif3a	A	G	19: 60,765,221 (GRCm39)	V322A	probably damaging	Het
Foxp2	A	T	6: 15,197,120 (GRCm39)	Q54L	possibly damaging	Het
Garin2	T	A	12: 78,759,028 (GRCm39)	V116E	possibly damaging	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gtf3c3	T	G	1: 54,477,997 (GRCm39)	E26A	possibly damaging	Het
Hps5	T	C	7: 46,424,331 (GRCm39)	E514G	probably damaging	Het
Ide	A	T	19: 37,302,647 (GRCm39)	D154E		Het
Insm1	T	C	2: 146,065,273 (GRCm39)	V363A	probably benign	Het
Iqgap2	A	T	13: 95,886,523 (GRCm39)	M120K	probably damaging	Het
Kcnh5	T	A	12: 75,023,488 (GRCm39)	I527F	probably benign	Het
Lrtm2	A	G	6: 119,297,792 (GRCm39)	L83P	probably damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Mycbp2	A	T	14: 103,425,960 (GRCm39)	H2421Q	probably damaging	Het
Myh15	A	G	16: 48,997,375 (GRCm39)	E1731G	probably damaging	Het
Myt1	A	T	2: 181,437,667 (GRCm39)	H168L	probably benign	Het
Nxph4	A	T	10: 127,362,546 (GRCm39)	V115E	probably damaging	Het
Ofcc1	A	T	13: 40,433,802 (GRCm39)	I101N	possibly damaging	Het
Oog2	T	C	4: 143,923,015 (GRCm39)	F427L	probably benign	Het
Or4c115	A	G	2: 88,928,076 (GRCm39)	L65P	probably damaging	Het
Or4f14b	A	T	2: 111,774,967 (GRCm39)	I278N	possibly damaging	Het
Or5w11	A	G	2: 87,459,209 (GRCm39)	N18S	probably benign	Het
Or8b48	T	C	9: 38,493,334 (GRCm39)	S254P	probably damaging	Het
Or8g27	A	G	9: 39,129,531 (GRCm39)	R293G	probably damaging	Het
Otop1	T	G	5: 38,455,302 (GRCm39)	I232S	probably benign	Het
Pak6	G	A	2: 118,523,883 (GRCm39)	R346Q	probably damaging	Het
Pbk	A	T	14: 66,054,713 (GRCm39)	M282L	probably benign	Het
Pmpcb	T	C	5: 21,944,009 (GRCm39)		probably null	Het
Pou5f2	T	A	13: 78,173,585 (GRCm39)	W176R	probably damaging	Het
Prkra	G	T	2: 76,478,147 (GRCm39)	S18R	probably benign	Het
Prune2	G	T	19: 17,145,691 (GRCm39)	A2764S	probably benign	Het
Ptpdc1	A	T	13: 48,740,221 (GRCm39)	D403E	probably benign	Het
Pxylp1	T	C	9: 96,722,089 (GRCm39)	E54G	probably damaging	Het
Rap1gap	G	A	4: 137,446,222 (GRCm39)	A325T	probably damaging	Het
Raver2	G	A	4: 100,977,387 (GRCm39)		probably benign	Het
Rbpj	T	C	5: 53,810,745 (GRCm39)	V455A	probably damaging	Het
Rptor	A	T	11: 119,702,823 (GRCm39)	I397F	probably benign	Het
Sacs	G	A	14: 61,421,499 (GRCm39)	M148I	probably benign	Het
Sec16b	A	G	1: 157,373,816 (GRCm39)	Q496R	probably damaging	Het
Sned1	C	A	1: 93,199,385 (GRCm39)	C488*	probably null	Het
Snupn	G	T	9: 56,882,547 (GRCm39)	V187F	possibly damaging	Het
Sorcs2	T	C	5: 36,183,225 (GRCm39)	D1016G	probably damaging	Het
Spta1	T	C	1: 174,045,204 (GRCm39)	M1517T	possibly damaging	Het
Them4	G	T	3: 94,231,630 (GRCm39)	G156C	probably damaging	Het
Tnik	T	C	3: 28,675,124 (GRCm39)	S721P	probably benign	Het
Trpm8	T	C	1: 88,246,767 (GRCm39)	S26P	probably damaging	Het
Ube2e3	A	G	2: 78,750,324 (GRCm39)	I183M	probably damaging	Het
Uhrf2	A	G	19: 30,055,416 (GRCm39)	Y389C	probably damaging	Het
Utp4	T	A	8: 107,642,828 (GRCm39)	D495E	possibly damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Vmn1r219	G	A	13: 23,347,399 (GRCm39)	G196E	probably damaging	Het
Vmn2r101	C	T	17: 19,811,395 (GRCm39)	S493L	probably benign	Het
Vmn2r61	A	G	7: 41,915,385 (GRCm39)	T111A	probably benign	Het
Zbtb40	G	T	4: 136,745,529 (GRCm39)	A168E	probably benign	Het
Zscan18	A	T	7: 12,508,054 (GRCm39)	I482N	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
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
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
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'- GACGGCAGTGAAATGCTTGC -3'
(R):5'- CTTTCCAAGTGATTCAGTGCAC -3'

Sequencing Primer
(F):5'- GAAATGCTTGCTTTTGAACATGACCC -3'
(R):5'- TTCAGTGCACAAAGATGCTTGG -3'

Posted On

2022-03-25