Incidental Mutation 'R0471:Amotl2'
| ID |
46766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amotl2
|
| Ensembl Gene |
ENSMUSG00000032531 |
| Gene Name |
angiomotin-like 2 |
| Synonyms |
MASCOT, Lccp |
| MMRRC Submission |
038671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R0471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
102594290-102610616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102597718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 126
(P126Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035121]
[ENSMUST00000134483]
[ENSMUST00000142011]
[ENSMUST00000145913]
[ENSMUST00000145937]
[ENSMUST00000153965]
[ENSMUST00000153911]
[ENSMUST00000190047]
[ENSMUST00000156485]
|
| AlphaFold |
Q8K371 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035121
AA Change: P126Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035121
Gene: ENSMUSG00000032531
AA Change: P126Q
| 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 benign
Transcript: ENSMUST00000142011
AA Change: P126Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120378
Gene: ENSMUSG00000032531
AA Change: P126Q
| 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 |
possibly damaging
Transcript: ENSMUST00000145913
AA Change: P126Q
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118126
Gene: ENSMUSG00000032531
AA Change: P126Q
| 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: ENSMUST00000153965
AA Change: P159Q
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121113
Gene: ENSMUSG00000032531
AA Change: P159Q
| 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 damaging
Transcript: ENSMUST00000153911
AA Change: P149Q
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119903
Gene: ENSMUSG00000032531
AA Change: P149Q
| 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 |
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: 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 |
|
| Meta Mutation Damage Score |
0.0812 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,075,891 (GRCm39) |
|
probably null |
Het |
| Adam33 |
C |
A |
2: 130,896,399 (GRCm39) |
G437C |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,579,377 (GRCm39) |
M1K |
probably null |
Het |
| Ap1g1 |
T |
A |
8: 110,580,275 (GRCm39) |
M576K |
possibly damaging |
Het |
| Apob |
C |
A |
12: 8,040,406 (GRCm39) |
A581E |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,328,907 (GRCm39) |
D44E |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C9orf72 |
G |
A |
4: 35,193,257 (GRCm39) |
T232I |
probably benign |
Het |
| Ccdc65 |
A |
T |
15: 98,615,348 (GRCm39) |
H118L |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,039,204 (GRCm39) |
E523G |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,731,999 (GRCm39) |
|
probably benign |
Het |
| Cilk1 |
G |
T |
9: 78,062,799 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
G |
6: 129,378,570 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,392 (GRCm39) |
T400A |
probably benign |
Het |
| Cpne4 |
T |
G |
9: 104,899,481 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,419,985 (GRCm39) |
R249* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,579,380 (GRCm39) |
I678V |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,036,407 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
T |
13: 38,377,326 (GRCm39) |
K1704* |
probably null |
Het |
| Eif2b2 |
T |
C |
12: 85,266,957 (GRCm39) |
F121S |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,561,379 (GRCm39) |
V69A |
possibly damaging |
Het |
| Epn2 |
T |
C |
11: 61,426,134 (GRCm39) |
Q281R |
probably damaging |
Het |
| Fgf3 |
A |
C |
7: 144,396,547 (GRCm39) |
D187A |
probably damaging |
Het |
| Galnt18 |
C |
A |
7: 111,378,506 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
C |
T |
5: 144,968,402 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,768,528 (GRCm39) |
I679T |
possibly damaging |
Het |
| Itpkb |
A |
G |
1: 180,245,820 (GRCm39) |
E779G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,477 (GRCm39) |
V27M |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,355,578 (GRCm39) |
R422L |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,858,858 (GRCm39) |
A231V |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,650,561 (GRCm39) |
S1422P |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,009,860 (GRCm39) |
Q176L |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,379,229 (GRCm39) |
E192G |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,862,025 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
G |
T |
16: 80,997,772 (GRCm39) |
|
probably benign |
Het |
| Nip7 |
T |
C |
8: 107,783,949 (GRCm39) |
L63P |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,138,450 (GRCm39) |
|
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,788,004 (GRCm39) |
V1022D |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,744 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5d43 |
A |
G |
2: 88,104,559 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,894,633 (GRCm39) |
I270T |
probably benign |
Het |
| Or7g28 |
A |
T |
9: 19,272,177 (GRCm39) |
L158* |
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,008,434 (GRCm39) |
Y214H |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,795,407 (GRCm39) |
F184L |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,929,569 (GRCm39) |
R426S |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,359 (GRCm39) |
Y246* |
probably null |
Het |
| Pik3cg |
T |
A |
12: 32,244,770 (GRCm39) |
T895S |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,738,426 (GRCm39) |
Y178H |
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,425,486 (GRCm39) |
R1197L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,700 (GRCm39) |
E3296G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,131,801 (GRCm39) |
K123R |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,304,006 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,909,685 (GRCm39) |
H717R |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,892,130 (GRCm39) |
V151G |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,217 (GRCm39) |
V56A |
possibly damaging |
Het |
| Trim67 |
C |
A |
8: 125,521,397 (GRCm39) |
T253K |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,703,928 (GRCm39) |
E698G |
probably damaging |
Het |
| Tspan14 |
T |
C |
14: 40,637,353 (GRCm39) |
D145G |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,847,021 (GRCm39) |
Q204* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,721 (GRCm39) |
N257K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,394,598 (GRCm39) |
|
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,666,169 (GRCm39) |
D560N |
probably damaging |
Het |
| Zscan21 |
T |
C |
5: 138,123,402 (GRCm39) |
V27A |
probably benign |
Het |
| Zzef1 |
A |
C |
11: 72,813,937 (GRCm39) |
E2842A |
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 |
|
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 |
|
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'- AGCATGAGGACACTGGAAGACTCC -3'
(R):5'- CATTACAGCGTGTGGGTACTGAGG -3'
Sequencing Primer
(F):5'- TTCCTTGGAGATCGGAGCAC -3'
(R):5'- TACTGAGGTGGTGGCCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation