Incidental Mutation 'R6002:Amer2'
| ID |
478436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amer2
|
| Ensembl Gene |
ENSMUSG00000021986 |
| Gene Name |
APC membrane recruitment 2 |
| Synonyms |
Fam123a, Amer2, 2600011E07Rik |
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
85.0076 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60615141-60625642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60616231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 142
(G142V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022561]
[ENSMUST00000224957]
[ENSMUST00000225247]
|
| AlphaFold |
Q8CCJ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022561
AA Change: G142V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986
AA Change: G142V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Pfam:WTX
|
57 |
554 |
5.2e-199 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224957
AA Change: G142V
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225247
AA Change: G142V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
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 |
|
R3160:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GGCTGCGTTCAAGTTATTCAAG -3'
(R):5'- TCACCTGTCTTGGACGCATC -3'
Sequencing Primer
(F):5'- GCTGCGTTCAAGTTATTCAAGAAAAG -3'
(R):5'- GGAGCTTTGATCGCCAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation