Mutagenetix > Incidental Mutation

Incidental Mutation 'R7969:Amotl2'

650508

Institutional Source

Beutler Lab

Gene Symbol

Amotl2

Ensembl Gene

ENSMUSG00000032531

Gene Name

angiomotin-like 2

Synonyms

Lccp, MASCOT

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R7969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102716672-102733418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102723769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 345 (T345I)

Ref Sequence

ENSEMBL: ENSMUSP00000121113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035121] [ENSMUST00000134483] [ENSMUST00000142011] [ENSMUST00000145913] [ENSMUST00000145937] [ENSMUST00000153911] [ENSMUST00000153965] [ENSMUST00000156485] [ENSMUST00000190047]

AlphaFold

Q8K371

Predicted Effect

probably benign
Transcript: ENSMUST00000035121
AA Change: T312I

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

SMART Domains

Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: T312I

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
low complexity region	192	215	N/A	INTRINSIC
low complexity region	248	268	N/A	INTRINSIC
Blast:PAC	352	393	1e-12	BLAST
low complexity region	422	436	N/A	INTRINSIC
Pfam:Angiomotin_C	478	688	2.3e-98	PFAM
low complexity region	698	710	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115845
Gene: ENSMUSG00000032531
AA Change: T126I

Domain	Start	End	E-Value	Type
low complexity region	30	50	N/A	INTRINSIC
Blast:PAC	134	175	8e-13	BLAST
low complexity region	204	218	N/A	INTRINSIC
Pfam:Angiomotin_C	260	470	4.9e-98	PFAM
low complexity region	480	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134483

Predicted Effect

probably benign
Transcript: ENSMUST00000142011
AA Change: T312I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120378
Gene: ENSMUSG00000032531
AA Change: T312I

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
low complexity region	192	215	N/A	INTRINSIC
low complexity region	248	268	N/A	INTRINSIC
Blast:PAC	352	393	1e-12	BLAST
low complexity region	422	436	N/A	INTRINSIC
Pfam:Angiomotin_C	478	686	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145913

SMART Domains

Protein: ENSMUSP00000118126
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145937

SMART Domains

Protein: ENSMUSP00000114950
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153911

SMART Domains

Protein: ENSMUSP00000119903
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
low complexity region	56	76	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
low complexity region	180	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153965
AA Change: T345I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: T345I

Domain	Start	End	E-Value	Type
low complexity region	66	86	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	190	203	N/A	INTRINSIC
low complexity region	225	248	N/A	INTRINSIC
low complexity region	281	301	N/A	INTRINSIC
Blast:PAC	385	426	1e-12	BLAST
low complexity region	455	469	N/A	INTRINSIC
Pfam:Angiomotin_C	511	719	3.7e-94	PFAM
low complexity region	731	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156485

SMART Domains

Protein: ENSMUSP00000116554
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190047

SMART Domains

Protein: ENSMUSP00000140688
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
coiled coil region	1	114	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Conditional homozygous knockout in endothelial cells during embryonic development leads to aortic restriction in the embryo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahcyl2	T	A	6: 29,870,664	I193N	probably damaging	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Cacna1s	T	G	1: 136,076,732	F337C	probably damaging	Het
Cep85l	T	C	10: 53,298,184	I488V	probably damaging	Het
Cmas	T	A	6: 142,775,166	D375E	probably damaging	Het
Cnga4	T	C	7: 105,406,046	F279S	probably damaging	Het
Cyp4f37	T	C	17: 32,625,207	V95A	probably benign	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dlg2	T	C	7: 92,417,258	F235S	probably benign	Het
Dmxl2	T	C	9: 54,446,881	D427G	possibly damaging	Het
Efl1	T	C	7: 82,692,970	Y529H	probably benign	Het
Epx	C	T	11: 87,872,721	M224I	probably benign	Het
Fetub	A	G	16: 22,929,699	R101G	possibly damaging	Het
Fubp1	T	A	3: 152,222,246		probably null	Het
Impdh2	C	T	9: 108,562,306	R153*	probably null	Het
Kcnj12	C	T	11: 61,069,604	Q243*	probably null	Het
Lrrn1	T	A	6: 107,567,850	V203E	probably damaging	Het
Meikin	T	C	11: 54,409,710	S338P	possibly damaging	Het
Myl10	A	T	5: 136,700,853		probably null	Het
Nt5c3b	T	C	11: 100,434,741	K120E	possibly damaging	Het
Olfr118	T	A	17: 37,672,656	L211H	probably damaging	Het
Olfr790	T	C	10: 129,501,847	L313S	probably benign	Het
Olfr802	G	A	10: 129,681,830	T303I	probably benign	Het
Olfr93	T	A	17: 37,151,186	N262I	possibly damaging	Het
Pdzd7	A	G	19: 45,036,225	S452P	probably benign	Het
Prune2	A	G	19: 17,201,670	I2982V	probably damaging	Het
Ptpdc1	G	A	13: 48,587,101	R285C	probably damaging	Het
Raf1	T	C	6: 115,620,288	D486G	probably damaging	Het
Rbm27	A	T	18: 42,275,480		probably benign	Het
Slit2	A	G	5: 48,304,036	Y1475C	possibly damaging	Het
Snx14	G	A	9: 88,413,560	T184M	probably damaging	Het
Tgm5	G	T	2: 121,075,169	N168K	probably damaging	Het
Ugt2b38	A	G	5: 87,424,032	V47A	probably benign	Het
Ush2a	A	G	1: 188,826,371	H3599R	probably benign	Het
Veph1	T	C	3: 66,215,475	E211G	possibly damaging	Het
Wapl	T	A	14: 34,730,647	H832Q	probably damaging	Het
Zfp281	T	A	1: 136,626,034	V250D	probably benign	Het
Zfp36l2	A	G	17: 84,185,824	S462P	unknown	Het

Other mutations in Amotl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Amotl2	APN	9	102725117	missense	probably damaging	1.00
IGL02207:Amotl2	APN	9	102724697	missense	probably damaging	1.00
R0471:Amotl2	UTSW	9	102720519	missense	probably damaging	0.98
R1420:Amotl2	UTSW	9	102724783	missense	possibly damaging	0.91
R1483:Amotl2	UTSW	9	102730897	missense	probably benign	0.16
R1525:Amotl2	UTSW	9	102728568	missense	probably damaging	1.00
R1661:Amotl2	UTSW	9	102730096	missense	probably damaging	0.99
R1945:Amotl2	UTSW	9	102720554	missense	probably benign
R2113:Amotl2	UTSW	9	102724723	nonsense	probably null
R2157:Amotl2	UTSW	9	102730589	unclassified	probably benign
R4084:Amotl2	UTSW	9	102724685	critical splice acceptor site	probably null
R4726:Amotl2	UTSW	9	102723819	missense	probably benign	0.00
R4755:Amotl2	UTSW	9	102720480	missense	probably damaging	1.00
R4782:Amotl2	UTSW	9	102720123	critical splice donor site	probably null
R4819:Amotl2	UTSW	9	102730071	missense	probably damaging	1.00
R5048:Amotl2	UTSW	9	102723798	missense	probably benign	0.00
R5328:Amotl2	UTSW	9	102723768	missense	probably benign
R5894:Amotl2	UTSW	9	102725172	missense	possibly damaging	0.79
R6956:Amotl2	UTSW	9	102724768	missense	probably damaging	1.00
R7304:Amotl2	UTSW	9	102728350	missense	probably damaging	1.00
R7390:Amotl2	UTSW	9	102731690	missense	probably damaging	1.00
R7474:Amotl2	UTSW	9	102730111	missense	probably benign	0.00
R7816:Amotl2	UTSW	9	102731654	missense	probably benign	0.43
R7967:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R7970:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R7971:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R7972:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R7973:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R8017:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R8019:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R8045:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R8046:Amotl2	UTSW	9	102723769	missense	probably benign	0.00
R8131:Amotl2	UTSW	9	102720416	missense	probably damaging	1.00
R8754:Amotl2	UTSW	9	102720159	missense	possibly damaging	0.53
R8813:Amotl2	UTSW	9	102730092	missense	probably damaging	1.00
R9071:Amotl2	UTSW	9	102718693	start gained	probably benign
R9399:Amotl2	UTSW	9	102729332	missense	probably damaging	0.99
X0022:Amotl2	UTSW	9	102729470	missense	probably damaging	1.00
Z1088:Amotl2	UTSW	9	102723698	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCTCTGAGCTTTATTCACC -3'
(R):5'- ATGGTGCAAAAGGTAGCCTG -3'

Sequencing Primer
(F):5'- TTTCCCAGGATCCTGCAGG -3'
(R):5'- TGCAAAAGGTAGCCTGATAGG -3'

Posted On

2020-09-15