Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Abi2'

721805

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl interactor 2

Synonyms

8430425M24Rik

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60448778-60520317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60503763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 356 (V356D)

Ref Sequence

ENSEMBL: ENSMUSP00000139867 (fasta)

Gene Model

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

AlphaFold

P62484

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: V276D

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

SMART Domains

Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: V276D

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: V356D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: V356D

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: V220D

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

SMART Domains

Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: V220D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		Het

Other mutations in Abi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Abi2	APN	1	60,486,505 (GRCm39)	missense	probably damaging	1.00
IGL01369:Abi2	APN	1	60,476,215 (GRCm39)	missense	probably damaging	1.00
IGL02028:Abi2	APN	1	60,473,442 (GRCm39)	missense	probably damaging	1.00
IGL02074:Abi2	APN	1	60,486,466 (GRCm39)	missense	probably damaging	1.00
IGL02897:Abi2	APN	1	60,487,353 (GRCm39)	missense	probably damaging	0.96
IGL02957:Abi2	APN	1	60,509,945 (GRCm39)	missense	probably damaging	1.00
1mM(1):Abi2	UTSW	1	60,476,216 (GRCm39)	missense	probably damaging	1.00
P0026:Abi2	UTSW	1	60,492,882 (GRCm39)	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60,492,884 (GRCm39)	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60,492,884 (GRCm39)	missense	probably benign	0.42
R3946:Abi2	UTSW	1	60,492,913 (GRCm39)	missense	probably damaging	1.00
R4793:Abi2	UTSW	1	60,448,963 (GRCm39)	start codon destroyed	probably null	1.00
R5110:Abi2	UTSW	1	60,489,280 (GRCm39)	missense	probably benign	0.00
R5557:Abi2	UTSW	1	60,478,071 (GRCm39)	unclassified	probably benign
R6037:Abi2	UTSW	1	60,503,738 (GRCm39)	missense	probably damaging	1.00
R6037:Abi2	UTSW	1	60,503,738 (GRCm39)	missense	probably damaging	1.00
R6368:Abi2	UTSW	1	60,492,810 (GRCm39)	missense	possibly damaging	0.82
R6481:Abi2	UTSW	1	60,478,098 (GRCm39)	splice site	probably null
R7393:Abi2	UTSW	1	60,473,541 (GRCm39)	missense	possibly damaging	0.92
R7460:Abi2	UTSW	1	60,473,466 (GRCm39)	missense	probably damaging	1.00
R7573:Abi2	UTSW	1	60,509,867 (GRCm39)	missense	probably benign	0.37
R7744:Abi2	UTSW	1	60,476,362 (GRCm39)	missense	probably benign	0.00
R8843:Abi2	UTSW	1	60,492,888 (GRCm39)	missense	probably null
R8988:Abi2	UTSW	1	60,489,251 (GRCm39)	missense	probably benign	0.08
R9464:Abi2	UTSW	1	60,478,100 (GRCm39)	critical splice acceptor site	probably null
R9528:Abi2	UTSW	1	60,473,453 (GRCm39)	missense	probably damaging	0.99
R9576:Abi2	UTSW	1	60,449,008 (GRCm39)	missense	possibly damaging	0.68
Z1177:Abi2	UTSW	1	60,476,324 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTGGTGTACCTCCTTACATG -3'
(R):5'- AGTGTCAGTGTCTGAAGAGGTC -3'

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

Posted On

2022-08-09