Incidental Mutation 'R3076:Amigo2'
| ID |
265235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amigo2
|
| Ensembl Gene |
ENSMUSG00000048218 |
| Gene Name |
adhesion molecule with Ig like domain 2 |
| Synonyms |
|
| MMRRC Submission |
040566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R3076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97142006-97145168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97143315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 369
(R369Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053106]
[ENSMUST00000059433]
[ENSMUST00000229890]
|
| AlphaFold |
Q80ZD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053106
AA Change: R369Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: R369Q
| 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 damaging
Transcript: ENSMUST00000229890
AA Change: R369Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Aopep |
A |
C |
13: 63,387,929 (GRCm39) |
D3A |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,446 (GRCm39) |
L504Q |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,679,498 (GRCm39) |
V932A |
possibly damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,924,762 (GRCm39) |
K9R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,089,499 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,818,725 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
A |
T |
2: 28,725,165 (GRCm39) |
V189E |
possibly damaging |
Het |
| Khdc3 |
C |
A |
9: 73,010,212 (GRCm39) |
F89L |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,734,668 (GRCm39) |
Q393R |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
C |
T |
7: 143,335,033 (GRCm39) |
A157T |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,498,879 (GRCm39) |
V76I |
possibly damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,768 (GRCm39) |
W1702R |
probably damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,542 (GRCm39) |
T129A |
probably benign |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,686 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,375 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,179,931 (GRCm39) |
S1450P |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,759,477 (GRCm39) |
I296T |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 58,983,518 (GRCm39) |
E471G |
probably damaging |
Het |
| St7 |
T |
G |
6: 17,846,237 (GRCm39) |
Y163* |
probably null |
Het |
| Svil |
T |
C |
18: 5,116,055 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,335 (GRCm39) |
A310T |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
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 |
|
R1188:Amigo2
|
UTSW |
15 |
97,143,594 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1639:Amigo2
|
UTSW |
15 |
97,143,879 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- TTCAGGGGCTCCAGAAACAC -3'
(R):5'- TCGTCCACTGTGACAGCAAG -3'
Sequencing Primer
(F):5'- ATCGTCAGCAGAGGCATCG -3'
(R):5'- CAAGACTGGCAATGGAAATACTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation