Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02720:Amigo2'

304968

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

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

IGL02720

Quality Score

Status

Chromosome

Chromosomal Location

97142006-97145168 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 97143578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 281 (C281*)

Ref Sequence

ENSEMBL: ENSMUSP00000155019 (fasta)

Gene Model

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

AlphaFold

Q80ZD9

Predicted Effect

probably null
Transcript: ENSMUST00000053106
AA Change: C281*

SMART Domains

Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: C281*

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 null
Transcript: ENSMUST00000229890
AA Change: C281*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,122,702 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,726,991 (GRCm39)	S454P	probably damaging	Het
Adh4	A	T	3: 138,124,981 (GRCm39)	I51F	possibly damaging	Het
Btn2a2	C	T	13: 23,664,637 (GRCm39)	R307Q	probably benign	Het
C2cd6	T	C	1: 59,090,307 (GRCm39)	I483M	probably damaging	Het
Capn9	T	C	8: 125,327,236 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,744,867 (GRCm39)	K1279E	probably damaging	Het
Cdadc1	T	C	14: 59,823,496 (GRCm39)	Y332C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep112	T	G	11: 108,750,177 (GRCm39)	F893L	probably damaging	Het
Cit	A	G	5: 116,133,511 (GRCm39)	S1867G	probably benign	Het
Clptm1l	T	C	13: 73,762,721 (GRCm39)		probably benign	Het
Cyp4a12b	A	T	4: 115,292,368 (GRCm39)		probably benign	Het
Dlx3	G	T	11: 95,014,470 (GRCm39)	W251L	possibly damaging	Het
Dnah1	C	T	14: 30,984,177 (GRCm39)	V3993M	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Fam53c	T	A	18: 34,903,720 (GRCm39)	W331R	probably damaging	Het
Gm5414	T	C	15: 101,533,990 (GRCm39)	E331G	probably damaging	Het
Gstcd	A	G	3: 132,777,722 (GRCm39)	V363A	probably benign	Het
Jak1	A	G	4: 101,021,647 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,834,993 (GRCm39)	V264A	probably benign	Het
Mapk8ip2	A	G	15: 89,341,785 (GRCm39)	D332G	probably damaging	Het
Nbeal1	G	A	1: 60,323,146 (GRCm39)	E2075K	probably damaging	Het
Opn5	T	G	17: 42,907,517 (GRCm39)	S120R	probably damaging	Het
Or52m2	C	T	7: 102,264,046 (GRCm39)	G50E	probably damaging	Het
Paqr8	C	T	1: 21,005,733 (GRCm39)	Q296*	probably null	Het
Pcsk6	C	T	7: 65,629,995 (GRCm39)	R374*	probably null	Het
Pld1	A	G	3: 28,141,411 (GRCm39)	H469R	probably damaging	Het
Rbl1	A	G	2: 157,041,349 (GRCm39)	S93P	possibly damaging	Het
Reln	C	T	5: 22,202,939 (GRCm39)	R1287Q	probably damaging	Het
Rev3l	C	T	10: 39,698,391 (GRCm39)	R963*	probably null	Het
Serinc4	C	T	2: 121,282,908 (GRCm39)	S418N	probably benign	Het
Slc6a18	A	G	13: 73,818,087 (GRCm39)	M310T	probably benign	Het
Slitrk3	T	A	3: 72,958,101 (GRCm39)	S224C	probably damaging	Het
Slu7	T	C	11: 43,336,030 (GRCm39)	I471T	probably benign	Het
Stxbp5	A	G	10: 9,665,105 (GRCm39)		probably null	Het
Tm7sf3	A	T	6: 146,514,872 (GRCm39)		probably benign	Het
Trem1	C	T	17: 48,539,869 (GRCm39)	S16L	probably benign	Het
Trp53bp2	T	A	1: 182,281,289 (GRCm39)	D963E	probably benign	Het
Trp63	A	T	16: 25,682,491 (GRCm39)	D184V	probably damaging	Het
Ttll6	T	C	11: 96,042,899 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,897,817 (GRCm39)		probably null	Het
Vmn2r14	A	T	5: 109,369,305 (GRCm39)	N89K	probably damaging	Het
Vmn2r76	T	C	7: 85,874,914 (GRCm39)	R688G	probably benign	Het
Vmn2r93	A	T	17: 18,525,296 (GRCm39)	H318L	probably damaging	Het
Vstm4	A	G	14: 32,585,574 (GRCm39)	H47R	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Ybx2	T	A	11: 69,831,157 (GRCm39)	S56T	probably benign	Het
Ybx2	C	A	11: 69,831,158 (GRCm39)	S251Y	probably benign	Het
Zbtb3	T	C	19: 8,781,578 (GRCm39)		probably null	Het

Other mutations in Amigo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Amigo2	APN	15	97,143,327 (GRCm39)	missense	possibly damaging	0.84
IGL01451:Amigo2	APN	15	97,143,107 (GRCm39)	missense	probably benign	0.22
IGL01510:Amigo2	APN	15	97,142,962 (GRCm39)	missense	probably benign
IGL02496:Amigo2	APN	15	97,143,494 (GRCm39)	nonsense	probably null
R0288:Amigo2	UTSW	15	97,143,560 (GRCm39)	missense	probably damaging	1.00
R0377:Amigo2	UTSW	15	97,144,261 (GRCm39)	missense	possibly damaging	0.93
R0696:Amigo2	UTSW	15	97,143,855 (GRCm39)	missense	probably benign	0.00
R1188:Amigo2	UTSW	15	97,143,594 (GRCm39)	missense	probably benign	0.37
R1639:Amigo2	UTSW	15	97,143,879 (GRCm39)	missense	probably benign	0.10
R3076:Amigo2	UTSW	15	97,143,315 (GRCm39)	missense	probably damaging	0.98
R3837:Amigo2	UTSW	15	97,143,196 (GRCm39)	missense	probably damaging	0.99
R4378:Amigo2	UTSW	15	97,143,859 (GRCm39)	missense	possibly damaging	0.69
R5196:Amigo2	UTSW	15	97,143,942 (GRCm39)	missense	probably damaging	1.00
R5698:Amigo2	UTSW	15	97,143,607 (GRCm39)	nonsense	probably null
R6191:Amigo2	UTSW	15	97,143,419 (GRCm39)	missense	probably benign	0.42
R6326:Amigo2	UTSW	15	97,143,256 (GRCm39)	missense	probably benign	0.00
R6738:Amigo2	UTSW	15	97,143,345 (GRCm39)	missense	possibly damaging	0.82
R7102:Amigo2	UTSW	15	97,143,741 (GRCm39)	missense	probably damaging	1.00
R7253:Amigo2	UTSW	15	97,142,956 (GRCm39)	missense	probably benign	0.03
R7615:Amigo2	UTSW	15	97,143,223 (GRCm39)	missense	probably damaging	1.00
R8269:Amigo2	UTSW	15	97,144,112 (GRCm39)	missense	possibly damaging	0.84
R8304:Amigo2	UTSW	15	97,144,038 (GRCm39)	missense	probably damaging	1.00
R8333:Amigo2	UTSW	15	97,143,166 (GRCm39)	missense	probably damaging	1.00
R8888:Amigo2	UTSW	15	97,143,389 (GRCm39)	missense	probably damaging	1.00
R8895:Amigo2	UTSW	15	97,143,389 (GRCm39)	missense	probably damaging	1.00
X0018:Amigo2	UTSW	15	97,143,774 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16