Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01510:Amigo2'

89170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amigo2

Ensembl Gene

ENSMUSG00000048218

Gene Name

adhesion molecule with Ig like domain 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

97244125-97247287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97245081 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 487 (T487A)

Ref Sequence

ENSEMBL: ENSMUSP00000155019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053106] [ENSMUST00000059433] [ENSMUST00000229890]

Predicted Effect

probably benign
Transcript: ENSMUST00000053106
AA Change: T487A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: T487A

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	39	71	7e-1	SMART
LRR	91	114	2.63e0	SMART
LRR	115	138	6.96e0	SMART
LRR_TYP	139	162	4.47e-3	SMART
LRR	163	186	1.07e0	SMART
LRR	190	214	1.06e2	SMART
LRRCT	227	282	4.74e-3	SMART
IGc2	300	369	9.34e-4	SMART
transmembrane domain	397	419	N/A	INTRINSIC
low complexity region	435	445	N/A	INTRINSIC
low complexity region	501	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000059433

SMART Domains

Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250

Domain	Start	End	E-Value	Type
Pfam:PC-Esterase	1	254	5.1e-53	PFAM
low complexity region	295	338	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226615

Predicted Effect

probably benign
Transcript: ENSMUST00000229890
AA Change: T487A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979	Q6R	probably damaging	Het
Adam5	A	T	8: 24,804,465	C373S	probably damaging	Het
Adgre4	T	C	17: 55,818,760		probably null	Het
Akap10	A	T	11: 61,878,020	M614K	possibly damaging	Het
Asap1	T	C	15: 64,158,928	D300G	probably damaging	Het
Atp4a	C	A	7: 30,720,791	L788M	probably benign	Het
Bcl3	T	A	7: 19,809,614	H309L	probably damaging	Het
Cblc	T	C	7: 19,785,275	N376S	probably benign	Het
Cd200r2	A	T	16: 44,909,311	I110L	probably benign	Het
Ceacam3	T	C	7: 17,159,842	M426T	probably benign	Het
Cep295	G	A	9: 15,354,626	R29*	probably null	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ctps	G	T	4: 120,558,844	T194K	probably damaging	Het
Cul3	A	G	1: 80,282,679	S318P	probably damaging	Het
Fasl	A	T	1: 161,781,953	S155T	possibly damaging	Het
Gldc	C	T	19: 30,113,721		probably null	Het
Gpr21	T	A	2: 37,518,421	C326*	probably null	Het
Gtf2a1	A	G	12: 91,567,833	S216P	probably benign	Het
Hoxb5	A	T	11: 96,303,992	S127C	possibly damaging	Het
Htt	A	T	5: 34,907,512	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,235,330	H855L	possibly damaging	Het
Lars	T	C	18: 42,242,109	I289V	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapk7	A	T	11: 61,491,160	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Naprt	A	G	15: 75,890,988		probably benign	Het
Nfatc1	T	C	18: 80,698,188	Y199C	probably damaging	Het
Olfr857	A	T	9: 19,713,279	I151F	probably benign	Het
Olfr919	T	C	9: 38,697,905	I158V	probably benign	Het
Phip	T	A	9: 82,913,871	I566F	probably benign	Het
Pnpla3	T	A	15: 84,171,072		probably benign	Het
Ptpn13	C	T	5: 103,562,300	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,638,386		probably null	Het
Ptprq	G	T	10: 107,712,048	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,648,365	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,867,953	S127P	probably damaging	Het
Tcerg1l	A	T	7: 138,394,305		probably benign	Het
Thbd	C	T	2: 148,406,974	V325M	probably damaging	Het
Trim37	G	A	11: 87,177,860	R344H	probably damaging	Het
Ttn	T	C	2: 76,872,765		probably benign	Het
Uvrag	G	A	7: 99,004,589	Q65*	probably null	Het
Wrap53	G	A	11: 69,562,740	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,990,343	V288G	probably damaging	Het

Other mutations in Amigo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Amigo2	APN	15	97245446	missense	possibly damaging	0.84
IGL01451:Amigo2	APN	15	97245226	missense	probably benign	0.22
IGL02496:Amigo2	APN	15	97245613	nonsense	probably null
IGL02720:Amigo2	APN	15	97245697	nonsense	probably null
R0288:Amigo2	UTSW	15	97245679	missense	probably damaging	1.00
R0377:Amigo2	UTSW	15	97246380	missense	possibly damaging	0.93
R0696:Amigo2	UTSW	15	97245974	missense	probably benign	0.00
R1188:Amigo2	UTSW	15	97245713	missense	probably benign	0.37
R1639:Amigo2	UTSW	15	97245998	missense	probably benign	0.10
R3076:Amigo2	UTSW	15	97245434	missense	probably damaging	0.98
R3837:Amigo2	UTSW	15	97245315	missense	probably damaging	0.99
R4378:Amigo2	UTSW	15	97245978	missense	possibly damaging	0.69
R5196:Amigo2	UTSW	15	97246061	missense	probably damaging	1.00
R5698:Amigo2	UTSW	15	97245726	nonsense	probably null
R6191:Amigo2	UTSW	15	97245538	missense	probably benign	0.42
R6326:Amigo2	UTSW	15	97245375	missense	probably benign	0.00
R6738:Amigo2	UTSW	15	97245464	missense	possibly damaging	0.82
R7102:Amigo2	UTSW	15	97245860	missense	probably damaging	1.00
R7253:Amigo2	UTSW	15	97245075	missense	probably benign	0.03
R7615:Amigo2	UTSW	15	97245342	missense	probably damaging	1.00
R8269:Amigo2	UTSW	15	97246231	missense	possibly damaging	0.84
R8304:Amigo2	UTSW	15	97246157	missense	probably damaging	1.00
R8333:Amigo2	UTSW	15	97245285	missense	probably damaging	1.00
X0018:Amigo2	UTSW	15	97245893	missense	probably damaging	0.97

Posted On

2013-12-03