Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Amotl2'

573370

Institutional Source

Beutler Lab

Gene Symbol

Amotl2

Ensembl Gene

ENSMUSG00000032531

Gene Name

angiomotin-like 2

Synonyms

MASCOT, Lccp

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

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

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102594290-102610616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102608889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 801 (V801E)

Ref Sequence

ENSEMBL: ENSMUSP00000121113 (fasta)

Gene Model

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

AlphaFold

Q8K371

Predicted Effect

probably damaging
Transcript: ENSMUST00000035121
AA Change: V768E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: V768E

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: V582E

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

SMART Domains

Protein: ENSMUSP00000120378
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
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: ENSMUST00000153965
AA Change: V801E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: V801E

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

Meta Mutation Damage Score

0.2198

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,152 (GRCm39)	D291E	probably benign	Het
Abca9	C	T	11: 110,036,487 (GRCm39)	V541I	probably benign	Het
Adamts15	A	T	9: 30,822,404 (GRCm39)		probably null	Het
Adgrg7	A	G	16: 56,553,207 (GRCm39)	I630T	probably damaging	Het
Ahnak	A	G	19: 8,980,569 (GRCm39)	I618V	probably benign	Het
Ankrd17	T	C	5: 90,430,779 (GRCm39)	T1002A	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bpifb2	A	G	2: 153,731,726 (GRCm39)	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,510,044 (GRCm39)	C854R	probably benign	Het
Ccdc171	A	G	4: 83,736,304 (GRCm39)	E1225G	probably damaging	Het
Cep350	T	C	1: 155,741,833 (GRCm39)	E2146G	possibly damaging	Het
Ces1a	A	C	8: 93,771,469 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,368,925 (GRCm39)	D444E	probably benign	Het
Cfap61	T	C	2: 145,843,802 (GRCm39)	V296A	probably benign	Het
Cgnl1	C	T	9: 71,552,931 (GRCm39)	R1011H	probably benign	Het
Cops4	C	T	5: 100,691,741 (GRCm39)	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,344,576 (GRCm39)	D177E	probably benign	Het
Dcdc2a	T	C	13: 25,291,600 (GRCm39)	V195A	possibly damaging	Het
Dipk2a	A	G	9: 94,419,436 (GRCm39)	S165P	probably damaging	Het
Dpagt1	G	A	9: 44,243,319 (GRCm39)	V285I	probably benign	Het
Dspp	G	T	5: 104,323,552 (GRCm39)	A232S	probably damaging	Het
Efcab3	T	C	11: 104,615,411 (GRCm39)	I726T	possibly damaging	Het
Ephx2	G	A	14: 66,347,904 (GRCm39)			Het
Fat1	T	C	8: 45,405,511 (GRCm39)	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Gldc	A	T	19: 30,077,314 (GRCm39)	S953T	possibly damaging	Het
Gm1123	T	C	9: 98,893,033 (GRCm39)	N315S	probably benign	Het
Golga2	A	G	2: 32,178,202 (GRCm39)	E37G		Het
Gpr139	T	A	7: 118,743,835 (GRCm39)	Q250L	probably benign	Het
Grik3	C	T	4: 125,543,532 (GRCm39)	R283C	probably damaging	Het
Haao	A	C	17: 84,154,081 (GRCm39)	V22G	probably damaging	Het
Hspg2	T	A	4: 137,266,490 (GRCm39)	F1884I	probably damaging	Het
Hyal3	G	A	9: 107,462,166 (GRCm39)	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424 (GRCm39)	I266K	probably benign	Het
Klhl26	A	C	8: 70,905,499 (GRCm39)	L137R	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lars1	A	G	18: 42,343,083 (GRCm39)		probably null	Het
Lats1	C	T	10: 7,577,859 (GRCm39)	Q328*	probably null	Het
Lingo3	G	A	10: 80,670,463 (GRCm39)	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,066,261 (GRCm39)	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,045,795 (GRCm39)	S211P	probably damaging	Het
Med15	C	T	16: 17,540,626 (GRCm39)	S21N	unknown	Het
Nav1	T	C	1: 135,512,656 (GRCm39)	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,102,272 (GRCm39)	R66T	probably benign	Het
Pclo	T	C	5: 14,732,024 (GRCm39)	Y3509H	unknown	Het
Pkp4	G	A	2: 59,140,484 (GRCm39)	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,856,958 (GRCm39)	A138T	probably benign	Het
Pum3	A	T	19: 27,401,642 (GRCm39)	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,287,126 (GRCm39)	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,590,883 (GRCm39)	W156R	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Serpina1d	T	C	12: 103,734,037 (GRCm39)	D89G	possibly damaging	Het
Sgsm3	T	A	15: 80,893,021 (GRCm39)	V366E	possibly damaging	Het
Shank3	T	G	15: 89,433,515 (GRCm39)	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,608,100 (GRCm39)	L215*	probably null	Het
Slc16a13	C	T	11: 70,109,797 (GRCm39)	V235I	probably benign	Het
Slc16a14	T	C	1: 84,907,187 (GRCm39)	D29G	probably benign	Het
Speer1a	T	C	5: 11,394,879 (GRCm39)	V122A	probably benign	Het
Spns2	T	A	11: 72,347,704 (GRCm39)	T329S	possibly damaging	Het
Sufu	G	A	19: 46,439,108 (GRCm39)		probably null	Het
Tll2	A	G	19: 41,108,608 (GRCm39)		probably null	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Trim42	A	C	9: 97,241,182 (GRCm39)	N683K	probably damaging	Het
Trmt5	A	G	12: 73,328,394 (GRCm39)	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,456,986 (GRCm39)	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,482,851 (GRCm39)	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,525,329 (GRCm39)	E329V	probably damaging	Het
Ywhae	G	T	11: 75,655,487 (GRCm39)	E253*	probably null	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
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'- AAACACAGGCATGGGCTTCC -3'
(R):5'- TGTTTCCTTCAGGCAGGACG -3'

Sequencing Primer
(F):5'- CCTTGTGCTTAGTTGATCAAGGGAAG -3'
(R):5'- TAGGCCAAAAAGCAGTCTTCTAG -3'

Posted On

2019-09-13