Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Amotl2'

232795

Institutional Source

Beutler Lab

Gene Symbol

Amotl2

Ensembl Gene

ENSMUSG00000032531

Gene Name

angiomotin-like 2

Synonyms

MASCOT, Lccp

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102594290-102610616 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 102601922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 389 (E389*)

Ref Sequence

ENSEMBL: ENSMUSP00000121113 (fasta)

Gene Model

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

AlphaFold

Q8K371

Predicted Effect

probably null
Transcript: ENSMUST00000035121
AA Change: E356*

SMART Domains

Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: E356*

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

noncoding transcript
Transcript: ENSMUST00000126616

Predicted Effect

probably null
Transcript: ENSMUST00000130602
AA Change: E170*

SMART Domains

Protein: ENSMUSP00000115845
Gene: ENSMUSG00000032531
AA Change: E170*

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 null
Transcript: ENSMUST00000142011
AA Change: E356*

SMART Domains

Protein: ENSMUSP00000120378
Gene: ENSMUSG00000032531
AA Change: E356*

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 null
Transcript: ENSMUST00000153965
AA Change: E389*

SMART Domains

Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: E389*

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: ENSMUST00000190047

SMART Domains

Protein: ENSMUSP00000140688
Gene: ENSMUSG00000032531

Domain	Start	End	E-Value	Type
coiled coil region	1	114	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: 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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,655,790 (GRCm39)	G295*	probably null	Het
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,597,549 (GRCm39)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Adh5	A	G	3: 138,157,245 (GRCm39)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,901,821 (GRCm39)	A842V	possibly damaging	Het
AI429214	A	T	8: 37,461,154 (GRCm39)	K101*	probably null	Het
Alg10b	T	A	15: 90,109,860 (GRCm39)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,438,754 (GRCm39)	E1347K	probably benign	Het
Ap5m1	G	A	14: 49,323,705 (GRCm39)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,140,512 (GRCm39)	S48R	probably damaging	Het
Asb1	T	C	1: 91,471,950 (GRCm39)	L34P	probably damaging	Het
Atg14	C	T	14: 47,788,781 (GRCm39)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,744,048 (GRCm39)	Q1217*	probably null	Het
Bltp2	T	C	11: 78,159,598 (GRCm39)	V549A	probably benign	Het
Bsn	A	T	9: 107,992,085 (GRCm39)	H1222Q	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cbx4	C	T	11: 118,972,718 (GRCm39)	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,031 (GRCm39)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,715,669 (GRCm39)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,411,299 (GRCm39)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,794,783 (GRCm39)	V272A	probably benign	Het
Cgn	A	T	3: 94,687,116 (GRCm39)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,369,387 (GRCm39)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,060,650 (GRCm39)		probably null	Het
Clmn	A	T	12: 104,747,067 (GRCm39)	S827T	probably benign	Het
Cntn4	T	C	6: 106,466,658 (GRCm39)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,116,095 (GRCm39)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,202,140 (GRCm39)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,839,188 (GRCm39)	S979T	unknown	Het
Crat	T	A	2: 30,292,654 (GRCm39)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,318,708 (GRCm39)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,501,817 (GRCm39)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,430,591 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,679,473 (GRCm39)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,488,098 (GRCm39)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 85,637,500 (GRCm39)	C301S	probably damaging	Het
Dock10	T	A	1: 80,584,280 (GRCm39)	D142V	probably damaging	Het
Dpp8	G	A	9: 64,971,150 (GRCm39)	C590Y	probably benign	Het
Dst	T	A	1: 34,314,317 (GRCm39)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,167,735 (GRCm39)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,596,420 (GRCm39)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,694,015 (GRCm39)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,422,235 (GRCm39)	D376E	probably benign	Het
Eps8	C	A	6: 137,514,633 (GRCm39)		probably null	Het
F11	T	C	8: 45,699,869 (GRCm39)	T406A	probably benign	Het
Fat3	T	G	9: 15,911,082 (GRCm39)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,977,230 (GRCm39)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,157,490 (GRCm39)	V109E	probably damaging	Het
Fn1	A	T	1: 71,665,323 (GRCm39)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,697,185 (GRCm39)	D9G	probably damaging	Het
Frem2	G	A	3: 53,560,343 (GRCm39)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,617,012 (GRCm39)	T185N	probably damaging	Het
Glo1	A	T	17: 30,823,014 (GRCm39)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,348,100 (GRCm39)	M137V	probably benign	Het
Gzmk	C	T	13: 113,310,489 (GRCm39)	G110S	probably benign	Het
Hdac9	G	T	12: 34,439,331 (GRCm39)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,432,694 (GRCm39)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,284,565 (GRCm39)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,154,347 (GRCm39)	L230R	probably damaging	Het
Klf9	C	T	19: 23,142,052 (GRCm39)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,282,812 (GRCm39)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,026,484 (GRCm39)	F67L	unknown	Het
Maml3	T	A	3: 51,598,077 (GRCm39)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,491,943 (GRCm39)		probably null	Het
Mettl3	A	G	14: 52,532,441 (GRCm39)	*104Q	probably null	Het
Msrb3	T	A	10: 120,687,985 (GRCm39)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,457,512 (GRCm39)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,927,038 (GRCm39)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,454,474 (GRCm39)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,469,327 (GRCm39)	D128G	probably damaging	Het
Nfam1	T	A	15: 82,899,202 (GRCm39)	K155*	probably null	Het
Noc4l	A	T	5: 110,798,425 (GRCm39)	M255K	possibly damaging	Het
Nolc1	GCA	GCAACA	19: 46,069,800 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGGAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nprl2	T	C	9: 107,422,511 (GRCm39)	S334P	probably benign	Het
Nsrp1	A	G	11: 76,937,396 (GRCm39)	S267P	probably benign	Het
Ntn4	A	T	10: 93,480,701 (GRCm39)	M142L	probably damaging	Het
Nup188	T	A	2: 30,194,113 (GRCm39)	C139*	probably null	Het
Nup210l	A	T	3: 90,098,281 (GRCm39)	N1411I	possibly damaging	Het
Or10g1	A	G	14: 52,647,753 (GRCm39)	L192P	probably damaging	Het
Or5ak24	T	G	2: 85,260,430 (GRCm39)	T248P	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,721,584 (GRCm39)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,103,510 (GRCm39)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,703,185 (GRCm39)	D917V	probably damaging	Het
Plekhg4	T	A	8: 106,106,066 (GRCm39)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 100,984,625 (GRCm39)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,510,742 (GRCm39)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,044,460 (GRCm39)		probably null	Het
Rbp3	T	G	14: 33,678,014 (GRCm39)	I654S	probably benign	Het
Rimbp3	T	C	16: 17,027,539 (GRCm39)	L321P	probably benign	Het
Rims2	T	A	15: 39,374,722 (GRCm39)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,460,003 (GRCm39)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,073,527 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,506,312 (GRCm39)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,314,774 (GRCm39)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,888,282 (GRCm39)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,833,724 (GRCm39)	D115G	probably benign	Het
Sowaha	G	A	11: 53,369,789 (GRCm39)	R316C	probably damaging	Het
Spata17	A	T	1: 186,830,108 (GRCm39)	F309I	possibly damaging	Het
Spmip7	G	A	11: 11,440,293 (GRCm39)		probably null	Het
Ssrp1	G	T	2: 84,873,350 (GRCm39)		probably null	Het
St6gal1	C	G	16: 23,147,167 (GRCm39)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,918,398 (GRCm39)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,306,562 (GRCm39)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,704,351 (GRCm39)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,869,220 (GRCm39)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,871 (GRCm39)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,499,856 (GRCm39)	I222N	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,542,954 (GRCm39)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,142,818 (GRCm39)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,810,933 (GRCm39)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,655,651 (GRCm39)	L621P	probably damaging	Het
Vps45	A	T	3: 95,954,365 (GRCm39)	M174K	probably benign	Het
Wdr72	A	T	9: 74,052,454 (GRCm39)	M162L	probably benign	Het
Wdr81	T	A	11: 75,344,461 (GRCm39)	M269L	probably benign	Het
Zfp53	A	G	17: 21,728,713 (GRCm39)	T249A	probably benign	Het
Zfp758	T	C	17: 22,580,626 (GRCm39)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,663,298 (GRCm39)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,666,507 (GRCm39)	Y45N	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
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
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'- GTAAACACTAGGCATGGGGC -3'
(R):5'- GGCCTCTATAGCTCAGAACAG -3'

Sequencing Primer
(F):5'- TAGCCCCCTTGTAGAGCAG -3'
(R):5'- GAACAGATTCTAAATTTCCCCCTG -3'

Posted On

2014-09-18