Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Abl2'

721960

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: 0.585) question?

Stock #

R9571 (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 G at 156469084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 783 (S783A)

Ref Sequence

ENSEMBL: ENSMUSP00000027888 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027888
AA Change: S783A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: S783A

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

SMART Domains

Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	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
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
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'- GGAACCTCTGTGCTGATGATG -3'
(R):5'- GCTCCTCTGGGCAATAGTTTG -3'

Sequencing Primer
(F):5'- ACCTCTGTGCTGATGATGACAGTG -3'
(R):5'- TGGAGCAGCACCTTCCTCAG -3'

Posted On

2022-08-09