Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Abi2'

486609

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl-interactor 2

Synonyms

8430425M24Rik

MMRRC Submission

043258-MU

Accession Numbers

Genbank: NM_001198570.1, NM_001198571.1, NM_198127.2; Ensembl: ENSMUST00000052332, ENSMUST00000087417

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60409619-60481158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60464579 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 212 (P212T)

Ref Sequence

ENSEMBL: ENSMUSP00000139743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000185788] [ENSMUST00000186097] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189980] [ENSMUST00000190158]

Predicted Effect

probably benign
Transcript: ENSMUST00000052332

SMART Domains

Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	168	1.1e-37	PFAM
low complexity region	236	262	N/A	INTRINSIC
low complexity region	335	370	N/A	INTRINSIC
SH3	387	442	5.55e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185788

SMART Domains

Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	1	67	4.4e-25	PFAM
low complexity region	68	81	N/A	INTRINSIC
low complexity region	83	115	N/A	INTRINSIC
low complexity region	119	137	N/A	INTRINSIC
low complexity region	249	284	N/A	INTRINSIC
SH3	301	356	3.4e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186097
AA Change: P268T

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

SMART Domains

Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: P268T

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	95	121	N/A	INTRINSIC
low complexity region	125	143	N/A	INTRINSIC
low complexity region	284	319	N/A	INTRINSIC
SH3	336	391	3.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187400

Predicted Effect

probably damaging
Transcript: ENSMUST00000187709
AA Change: P348T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: P348T

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	165	1.8e-33	PFAM
low complexity region	166	179	N/A	INTRINSIC
low complexity region	236	262	N/A	INTRINSIC
low complexity region	364	399	N/A	INTRINSIC
SH3	416	471	3.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188594

SMART Domains

Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	165	1.7e-33	PFAM
low complexity region	166	179	N/A	INTRINSIC
low complexity region	181	213	N/A	INTRINSIC
low complexity region	217	235	N/A	INTRINSIC
low complexity region	347	382	N/A	INTRINSIC
SH3	399	454	3.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188618

SMART Domains

Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	5.1e-37	PFAM
low complexity region	172	185	N/A	INTRINSIC
low complexity region	242	268	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC
low complexity region	402	437	N/A	INTRINSIC
SH3	454	487	2.29e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189980

SMART Domains

Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	5e-37	PFAM
low complexity region	172	185	N/A	INTRINSIC
low complexity region	242	268	N/A	INTRINSIC
low complexity region	369	404	N/A	INTRINSIC
SH3	421	476	5.55e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190158
AA Change: P212T

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

SMART Domains

Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: P212T

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
PDB:4N78\|F	88	196	5e-62	PDB
low complexity region	226	261	N/A	INTRINSIC
SH3	278	333	3.4e-26	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]

Allele List at MGI

All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Abi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Abi2	APN	1	60447346	missense	probably damaging	1.00
IGL01369:Abi2	APN	1	60437056	missense	probably damaging	1.00
IGL02028:Abi2	APN	1	60434283	missense	probably damaging	1.00
IGL02074:Abi2	APN	1	60447307	missense	probably damaging	1.00
IGL02897:Abi2	APN	1	60448194	missense	probably damaging	0.96
IGL02957:Abi2	APN	1	60470786	missense	probably damaging	1.00
1mM(1):Abi2	UTSW	1	60437057	missense	probably damaging	1.00
P0026:Abi2	UTSW	1	60453723	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60453725	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60453725	missense	probably benign	0.42
R3946:Abi2	UTSW	1	60453754	missense	probably damaging	1.00
R4793:Abi2	UTSW	1	60409804	start codon destroyed	probably null	1.00
R5110:Abi2	UTSW	1	60450121	missense	probably benign	0.00
R5557:Abi2	UTSW	1	60438912	unclassified	probably benign
R6037:Abi2	UTSW	1	60464579	missense	probably damaging	1.00
R6368:Abi2	UTSW	1	60453651	missense	possibly damaging	0.82
R6481:Abi2	UTSW	1	60438939	splice site	probably null
R7393:Abi2	UTSW	1	60434382	missense	possibly damaging	0.92
R7460:Abi2	UTSW	1	60434307	missense	probably damaging	1.00
R7573:Abi2	UTSW	1	60470708	missense	probably benign	0.37
R7744:Abi2	UTSW	1	60437203	missense	probably benign	0.00
Z1177:Abi2	UTSW	1	60437165	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTCAAAAGTGGATCCGAAAG -3'
(R):5'- ATGAGAGTGTCAGTGTCTGAAG -3'

Sequencing Primer
(F):5'- GTGGTGTACCTCCTTACA -3'
(R):5'- TGAAGTCCAGGTCCTCTACTAGAG -3'

Posted On

2017-08-16