Incidental Mutation 'R1188:Amigo2'
| ID |
102390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amigo2
|
| Ensembl Gene |
ENSMUSG00000048218 |
| Gene Name |
adhesion molecule with Ig like domain 2 |
| Synonyms |
|
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97142006-97145168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97143594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 276
(E276V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053106]
[ENSMUST00000059433]
[ENSMUST00000229890]
|
| AlphaFold |
Q80ZD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053106
AA Change: E276V
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: E276V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
39 |
71 |
7e-1 |
SMART |
|
LRR
|
91 |
114 |
2.63e0 |
SMART |
|
LRR
|
115 |
138 |
6.96e0 |
SMART |
|
LRR_TYP
|
139 |
162 |
4.47e-3 |
SMART |
|
LRR
|
163 |
186 |
1.07e0 |
SMART |
|
LRR
|
190 |
214 |
1.06e2 |
SMART |
|
LRRCT
|
227 |
282 |
4.74e-3 |
SMART |
|
IGc2
|
300 |
369 |
9.34e-4 |
SMART |
|
transmembrane domain
|
397 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059433
|
| SMART Domains |
Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
1 |
254 |
5.1e-53 |
PFAM |
|
low complexity region
|
295 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229890
AA Change: E276V
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Amigo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Amigo2
|
APN |
15 |
97,143,327 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01451:Amigo2
|
APN |
15 |
97,143,107 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01510:Amigo2
|
APN |
15 |
97,142,962 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Amigo2
|
APN |
15 |
97,143,494 (GRCm39) |
nonsense |
probably null |
|
|
IGL02720:Amigo2
|
APN |
15 |
97,143,578 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Amigo2
|
UTSW |
15 |
97,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Amigo2
|
UTSW |
15 |
97,144,261 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0696:Amigo2
|
UTSW |
15 |
97,143,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1639:Amigo2
|
UTSW |
15 |
97,143,879 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3076:Amigo2
|
UTSW |
15 |
97,143,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3837:Amigo2
|
UTSW |
15 |
97,143,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4378:Amigo2
|
UTSW |
15 |
97,143,859 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5196:Amigo2
|
UTSW |
15 |
97,143,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Amigo2
|
UTSW |
15 |
97,143,607 (GRCm39) |
nonsense |
probably null |
|
|
R6191:Amigo2
|
UTSW |
15 |
97,143,419 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6326:Amigo2
|
UTSW |
15 |
97,143,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6738:Amigo2
|
UTSW |
15 |
97,143,345 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7102:Amigo2
|
UTSW |
15 |
97,143,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Amigo2
|
UTSW |
15 |
97,142,956 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7615:Amigo2
|
UTSW |
15 |
97,143,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Amigo2
|
UTSW |
15 |
97,144,112 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8304:Amigo2
|
UTSW |
15 |
97,144,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Amigo2
|
UTSW |
15 |
97,143,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Amigo2
|
UTSW |
15 |
97,143,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Amigo2
|
UTSW |
15 |
97,143,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Amigo2
|
UTSW |
15 |
97,143,774 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCGATACAAGAATATACCCCGGC -3'
(R):5'- AGAGGCATCTACCTTCACGGGAAC -3'
Sequencing Primer
(F):5'- TCAAAGCCAGGGTTCTCTATGAC -3'
(R):5'- CACGGGAACCCATTTGTATG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation