Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Abi2'

586120

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl interactor 2

Synonyms

8430425M24Rik

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60448778-60520317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60509867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 412 (V412D)

Ref Sequence

ENSEMBL: ENSMUSP00000140274 (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
AA Change: V345D

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: V345D

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

unknown
Transcript: ENSMUST00000185788
AA Change: V259D

SMART Domains

Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: V259D

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 benign
Transcript: ENSMUST00000186097
AA Change: V294D

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: V294D

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: ENSMUST00000187709
AA Change: V374D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: V374D

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

unknown
Transcript: ENSMUST00000188594
AA Change: V357D

SMART Domains

Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: V357D

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
AA Change: V412D

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: V412D

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
AA Change: V379D

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: V379D

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: V236D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: V236D

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: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	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
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
R9569:Abi2	UTSW	1	60,503,763 (GRCm39)	missense	probably damaging	0.97
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'- TCATTCAGCGCCATCAGCTG -3'
(R):5'- AGAAGTTTTCTCGTCCTTCCAG -3'

Sequencing Primer
(F):5'- TTGTGGGAAAATTACTCTTGCTC -3'
(R):5'- AAGTTTTCTCGTCCTTCCAGACCAC -3'

Posted On

2019-10-24