Incidental Mutation 'R3160:Amer2'
| ID |
258121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amer2
|
| Ensembl Gene |
ENSMUSG00000021986 |
| Gene Name |
APC membrane recruitment 2 |
| Synonyms |
Fam123a, Amer2, 2600011E07Rik |
| MMRRC Submission |
040611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R3160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60615141-60625642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60616000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022561]
[ENSMUST00000224957]
[ENSMUST00000225247]
|
| AlphaFold |
Q8CCJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022561
AA Change: D65G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986
AA Change: D65G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Pfam:WTX
|
57 |
554 |
5.2e-199 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224957
AA Change: D65G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225247
AA Change: D65G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.5778 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
| Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
| Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
| Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
| Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
| Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
| Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
| Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
| Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
Het |
|
| Other mutations in Amer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01844:Amer2
|
APN |
14 |
60,617,356 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03306:Amer2
|
APN |
14 |
60,616,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Amer2
|
APN |
14 |
60,617,331 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0365:Amer2
|
UTSW |
14 |
60,616,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0433:Amer2
|
UTSW |
14 |
60,616,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1696:Amer2
|
UTSW |
14 |
60,617,123 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1754:Amer2
|
UTSW |
14 |
60,617,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Amer2
|
UTSW |
14 |
60,617,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2018:Amer2
|
UTSW |
14 |
60,615,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2423:Amer2
|
UTSW |
14 |
60,616,656 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3161:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Amer2
|
UTSW |
14 |
60,616,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4981:Amer2
|
UTSW |
14 |
60,617,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Amer2
|
UTSW |
14 |
60,617,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5535:Amer2
|
UTSW |
14 |
60,616,302 (GRCm39) |
small deletion |
probably benign |
|
|
R5685:Amer2
|
UTSW |
14 |
60,617,026 (GRCm39) |
nonsense |
probably null |
|
|
R6002:Amer2
|
UTSW |
14 |
60,616,231 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6247:Amer2
|
UTSW |
14 |
60,616,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6408:Amer2
|
UTSW |
14 |
60,617,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7271:Amer2
|
UTSW |
14 |
60,617,123 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7407:Amer2
|
UTSW |
14 |
60,616,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Amer2
|
UTSW |
14 |
60,616,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Amer2
|
UTSW |
14 |
60,616,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8758:Amer2
|
UTSW |
14 |
60,616,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9005:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9006:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGACTCGCATTGTGAG -3'
(R):5'- TGCTGAAGATCCCTTTCAGC -3'
Sequencing Primer
(F):5'- CTCGCATTGTGAGTGCGC -3'
(R):5'- CGTTCTTTTTCAGCAGGGAGAAGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation