Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Amigo2'

450815

Institutional Source

Beutler Lab

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 #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97142006-97145168 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 97143607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 272 (Q272*)

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: Q272*

SMART Domains

Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: Q272*

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: Q272*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Krt14	T	C	11: 100,096,451 (GRCm39)	T208A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Or13c7b	C	A	4: 43,821,183 (GRCm39)	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,842,175 (GRCm39)	K534N	probably benign	Het
Slc25a12	T	C	2: 71,112,917 (GRCm39)	E448G	probably damaging	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,701,879 (GRCm39)		probably null	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	possibly damaging	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
IGL02720:Amigo2	APN	15	97,143,578 (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
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

Predicted Primers

PCR Primer
(F):5'- TCTTTATCTGGCTCCAGCAG -3'
(R):5'- TCGAATCCCTTCCATACCGATG -3'

Sequencing Primer
(F):5'- TCCAGCAGCCTGTTATCGG -3'
(R):5'- GATGCACCATATAAACTTAGTGCCGG -3'

Posted On

2017-01-03