Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Amotl2'

357929

Institutional Source

Beutler Lab

Gene Symbol

Amotl2

Ensembl Gene

ENSMUSG00000032531

Gene Name

angiomotin-like 2

Synonyms

MASCOT, Lccp

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R4755 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

102594290-102610616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102597679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 146 (H146L)

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 damaging
Transcript: ENSMUST00000035121
AA Change: H113L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: H113L

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

probably benign
Transcript: ENSMUST00000130602

SMART Domains

Protein: ENSMUSP00000115845
Gene: ENSMUSG00000032531

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

noncoding transcript
Transcript: ENSMUST00000138224

Predicted Effect

probably damaging
Transcript: ENSMUST00000142011
AA Change: H113L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120378
Gene: ENSMUSG00000032531
AA Change: H113L

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 damaging
Transcript: ENSMUST00000145913
AA Change: H113L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118126
Gene: ENSMUSG00000032531
AA Change: H113L

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 damaging
Transcript: ENSMUST00000153911
AA Change: H136L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119903
Gene: ENSMUSG00000032531
AA Change: H136L

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 damaging
Transcript: ENSMUST00000153965
AA Change: H146L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: H146L

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

noncoding transcript
Transcript: ENSMUST00000155143

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

0.1935

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	probably damaging	Het

Other mutations in Amotl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Amotl2	APN	9	102,602,316 (GRCm39)	missense	probably damaging	1.00
IGL02207:Amotl2	APN	9	102,601,896 (GRCm39)	missense	probably damaging	1.00
R0471:Amotl2	UTSW	9	102,597,718 (GRCm39)	missense	probably damaging	0.98
R1420:Amotl2	UTSW	9	102,601,982 (GRCm39)	missense	possibly damaging	0.91
R1483:Amotl2	UTSW	9	102,608,096 (GRCm39)	missense	probably benign	0.16
R1525:Amotl2	UTSW	9	102,605,767 (GRCm39)	missense	probably damaging	1.00
R1661:Amotl2	UTSW	9	102,607,295 (GRCm39)	missense	probably damaging	0.99
R1945:Amotl2	UTSW	9	102,597,753 (GRCm39)	missense	probably benign
R2113:Amotl2	UTSW	9	102,601,922 (GRCm39)	nonsense	probably null
R2157:Amotl2	UTSW	9	102,607,788 (GRCm39)	unclassified	probably benign
R4084:Amotl2	UTSW	9	102,601,884 (GRCm39)	critical splice acceptor site	probably null
R4726:Amotl2	UTSW	9	102,601,018 (GRCm39)	missense	probably benign	0.00
R4782:Amotl2	UTSW	9	102,597,322 (GRCm39)	critical splice donor site	probably null
R4819:Amotl2	UTSW	9	102,607,270 (GRCm39)	missense	probably damaging	1.00
R5048:Amotl2	UTSW	9	102,600,997 (GRCm39)	missense	probably benign	0.00
R5328:Amotl2	UTSW	9	102,600,967 (GRCm39)	missense	probably benign
R5894:Amotl2	UTSW	9	102,602,371 (GRCm39)	missense	possibly damaging	0.79
R6956:Amotl2	UTSW	9	102,601,967 (GRCm39)	missense	probably damaging	1.00
R7304:Amotl2	UTSW	9	102,605,549 (GRCm39)	missense	probably damaging	1.00
R7390:Amotl2	UTSW	9	102,608,889 (GRCm39)	missense	probably damaging	1.00
R7474:Amotl2	UTSW	9	102,607,310 (GRCm39)	missense	probably benign	0.00
R7816:Amotl2	UTSW	9	102,608,853 (GRCm39)	missense	probably benign	0.43
R7967:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R7969:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R7970:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R7971:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R7972:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R7973:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R8017:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R8019:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R8045:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R8046:Amotl2	UTSW	9	102,600,968 (GRCm39)	missense	probably benign	0.00
R8131:Amotl2	UTSW	9	102,597,615 (GRCm39)	missense	probably damaging	1.00
R8754:Amotl2	UTSW	9	102,597,358 (GRCm39)	missense	possibly damaging	0.53
R8813:Amotl2	UTSW	9	102,607,291 (GRCm39)	missense	probably damaging	1.00
R9071:Amotl2	UTSW	9	102,595,892 (GRCm39)	start gained	probably benign
R9399:Amotl2	UTSW	9	102,606,531 (GRCm39)	missense	probably damaging	0.99
X0022:Amotl2	UTSW	9	102,606,669 (GRCm39)	missense	probably damaging	1.00
Z1088:Amotl2	UTSW	9	102,600,897 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TACGGCAACCTGACAGAGAC -3'
(R):5'- TTTCCAGGGACAGTTGCAGAAG -3'

Sequencing Primer
(F):5'- AGAGACTCGCACTCTGCTG -3'
(R):5'- GTTGCAGAAGCCGTTCACTCAAG -3'

Posted On

2015-11-11