Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Amotl2'

579350

Institutional Source

Beutler Lab

Gene Symbol

Amotl2

Ensembl Gene

ENSMUSG00000032531

Gene Name

angiomotin-like 2

Synonyms

MASCOT, Lccp

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

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

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102594290-102610616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102607310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 706 (V706A)

Ref Sequence

ENSEMBL: ENSMUSP00000121113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035121] [ENSMUST00000142011] [ENSMUST00000153965] [ENSMUST00000190047]

AlphaFold

Q8K371

Predicted Effect

probably benign
Transcript: ENSMUST00000035121
AA Change: V673A

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

SMART Domains

Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: V673A

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
AA Change: V487A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115845
Gene: ENSMUSG00000032531
AA Change: V487A

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: ENSMUST00000142011
AA Change: V673A

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

SMART Domains

Protein: ENSMUSP00000120378
Gene: ENSMUSG00000032531
AA Change: V673A

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: ENSMUST00000153965
AA Change: V706A

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

SMART Domains

Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: V706A

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: ENSMUST00000190047

SMART Domains

Protein: ENSMUSP00000140688
Gene: ENSMUSG00000032531

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly 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
R4755:Amotl2	UTSW	9	102,597,679 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTGACAGTGTGACCTCCTC -3'
(R):5'- AGGACCCATGTAGGTTGCAG -3'

Sequencing Primer
(F):5'- TCCTCCCTGACAGATTGAAGGTG -3'
(R):5'- ACCCATGTAGGTTGCAGTCACG -3'

Posted On

2019-10-07