Incidental Mutation 'R2071:Atg2a'
| ID |
227189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2a
|
| Ensembl Gene |
ENSMUSG00000024773 |
| Gene Name |
autophagy related 2A |
| Synonyms |
1810013C15Rik |
| MMRRC Submission |
040076-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
R2071 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6307488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1474
(V1474A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
| AlphaFold |
Q6P4T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045351
AA Change: V1474A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: V1474A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
14 |
131 |
7.6e-20 |
PFAM |
|
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1773 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1814 |
1908 |
2.2e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143053
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145600
AA Change: V1277A
|
| SMART Domains |
Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: V1277A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
1233 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1565 |
1577 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1618 |
1712 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151079
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,474 (GRCm39) |
H283Q |
probably damaging |
Het |
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,897,266 (GRCm39) |
T310A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,671,594 (GRCm39) |
D92G |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,798,561 (GRCm39) |
A30T |
probably benign |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,988,878 (GRCm39) |
|
probably null |
Het |
| Atp12a |
A |
G |
14: 56,603,466 (GRCm39) |
K24E |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,860 (GRCm39) |
R323G |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,112 (GRCm39) |
|
probably benign |
Het |
| Chga |
A |
T |
12: 102,529,122 (GRCm39) |
K366N |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,309,572 (GRCm39) |
K515E |
probably null |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Eif1ad8 |
T |
A |
12: 87,563,822 (GRCm39) |
F52L |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,473,012 (GRCm39) |
F252S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,312,775 (GRCm39) |
K846E |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,514 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,210,772 (GRCm39) |
Y661F |
possibly damaging |
Het |
| Hhip |
A |
G |
8: 80,783,931 (GRCm39) |
F72L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,231,136 (GRCm39) |
L181P |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,834,981 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
T |
5: 123,932,340 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
G |
T |
8: 85,812,013 (GRCm39) |
V156L |
possibly damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,823 (GRCm39) |
D517G |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,135,108 (GRCm39) |
L287P |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,907,843 (GRCm39) |
E238V |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,349,725 (GRCm39) |
I52N |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Nap1l1 |
C |
T |
10: 111,328,761 (GRCm39) |
T230I |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,181 (GRCm39) |
F28L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Nudt13 |
T |
A |
14: 20,354,045 (GRCm39) |
D36E |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pde10a |
A |
T |
17: 9,180,827 (GRCm39) |
I754F |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,953,058 (GRCm39) |
V567E |
possibly damaging |
Het |
| Pou3f2 |
A |
G |
4: 22,488,076 (GRCm39) |
V19A |
probably benign |
Het |
| Pramel34 |
T |
G |
5: 93,784,375 (GRCm39) |
Q363P |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,556,081 (GRCm39) |
I264T |
probably benign |
Het |
| Ptprn |
C |
A |
1: 75,231,788 (GRCm39) |
G504C |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,700,349 (GRCm39) |
D1615E |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,232 (GRCm39) |
M134T |
probably benign |
Het |
| Slc10a4 |
T |
C |
5: 73,164,840 (GRCm39) |
L144P |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,370 (GRCm39) |
L131P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,252,743 (GRCm39) |
E259D |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,890,753 (GRCm39) |
D1922G |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,979,623 (GRCm39) |
I243N |
possibly damaging |
Het |
| Specc1 |
A |
C |
11: 62,008,701 (GRCm39) |
K152N |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tcstv2b |
A |
T |
13: 120,373,836 (GRCm39) |
D151E |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,091,739 (GRCm39) |
K601E |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,030 (GRCm39) |
G230R |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,312,244 (GRCm39) |
Y183F |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Vcp |
A |
G |
4: 42,995,894 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,995 (GRCm39) |
F70L |
probably benign |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,056 (GRCm39) |
I283L |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,363 (GRCm39) |
F364L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,334,220 (GRCm39) |
L266P |
possibly damaging |
Het |
|
| Other mutations in Atg2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Atg2a
|
APN |
19 |
6,304,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01612:Atg2a
|
APN |
19 |
6,302,514 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02105:Atg2a
|
APN |
19 |
6,300,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02151:Atg2a
|
APN |
19 |
6,305,787 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02228:Atg2a
|
APN |
19 |
6,296,830 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02329:Atg2a
|
APN |
19 |
6,299,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02408:Atg2a
|
APN |
19 |
6,291,858 (GRCm39) |
nonsense |
probably null |
|
|
IGL02538:Atg2a
|
APN |
19 |
6,307,658 (GRCm39) |
missense |
probably benign |
|
|
IGL02830:Atg2a
|
APN |
19 |
6,297,711 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03349:Atg2a
|
APN |
19 |
6,308,054 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4515001:Atg2a
|
UTSW |
19 |
6,303,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Atg2a
|
UTSW |
19 |
6,302,819 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0212:Atg2a
|
UTSW |
19 |
6,296,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Atg2a
|
UTSW |
19 |
6,297,713 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0398:Atg2a
|
UTSW |
19 |
6,296,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Atg2a
|
UTSW |
19 |
6,306,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Atg2a
|
UTSW |
19 |
6,306,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0494:Atg2a
|
UTSW |
19 |
6,303,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Atg2a
|
UTSW |
19 |
6,302,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0590:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0592:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0593:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0630:Atg2a
|
UTSW |
19 |
6,294,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1306:Atg2a
|
UTSW |
19 |
6,303,051 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1437:Atg2a
|
UTSW |
19 |
6,300,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Atg2a
|
UTSW |
19 |
6,296,801 (GRCm39) |
splice site |
probably null |
|
|
R1774:Atg2a
|
UTSW |
19 |
6,300,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1781:Atg2a
|
UTSW |
19 |
6,306,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1854:Atg2a
|
UTSW |
19 |
6,302,461 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1884:Atg2a
|
UTSW |
19 |
6,304,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Atg2a
|
UTSW |
19 |
6,295,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Atg2a
|
UTSW |
19 |
6,302,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Atg2a
|
UTSW |
19 |
6,300,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2513:Atg2a
|
UTSW |
19 |
6,308,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3808:Atg2a
|
UTSW |
19 |
6,302,846 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4065:Atg2a
|
UTSW |
19 |
6,308,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Atg2a
|
UTSW |
19 |
6,308,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4352:Atg2a
|
UTSW |
19 |
6,307,487 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4440:Atg2a
|
UTSW |
19 |
6,305,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4472:Atg2a
|
UTSW |
19 |
6,308,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4669:Atg2a
|
UTSW |
19 |
6,309,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Atg2a
|
UTSW |
19 |
6,300,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Atg2a
|
UTSW |
19 |
6,307,563 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5237:Atg2a
|
UTSW |
19 |
6,296,844 (GRCm39) |
missense |
probably benign |
|
|
R5350:Atg2a
|
UTSW |
19 |
6,301,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5507:Atg2a
|
UTSW |
19 |
6,295,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5732:Atg2a
|
UTSW |
19 |
6,307,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Atg2a
|
UTSW |
19 |
6,311,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Atg2a
|
UTSW |
19 |
6,304,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Atg2a
|
UTSW |
19 |
6,304,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Atg2a
|
UTSW |
19 |
6,291,759 (GRCm39) |
unclassified |
probably benign |
|
|
R6572:Atg2a
|
UTSW |
19 |
6,304,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6878:Atg2a
|
UTSW |
19 |
6,300,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6879:Atg2a
|
UTSW |
19 |
6,301,882 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6983:Atg2a
|
UTSW |
19 |
6,310,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Atg2a
|
UTSW |
19 |
6,300,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7217:Atg2a
|
UTSW |
19 |
6,303,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Atg2a
|
UTSW |
19 |
6,311,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Atg2a
|
UTSW |
19 |
6,305,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7425:Atg2a
|
UTSW |
19 |
6,305,682 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7512:Atg2a
|
UTSW |
19 |
6,310,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Atg2a
|
UTSW |
19 |
6,301,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Atg2a
|
UTSW |
19 |
6,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Atg2a
|
UTSW |
19 |
6,302,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8258:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8259:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8350:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8412:Atg2a
|
UTSW |
19 |
6,294,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8474:Atg2a
|
UTSW |
19 |
6,301,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8501:Atg2a
|
UTSW |
19 |
6,304,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Atg2a
|
UTSW |
19 |
6,306,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Atg2a
|
UTSW |
19 |
6,294,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Atg2a
|
UTSW |
19 |
6,300,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Atg2a
|
UTSW |
19 |
6,306,721 (GRCm39) |
splice site |
probably benign |
|
|
R9016:Atg2a
|
UTSW |
19 |
6,300,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Atg2a
|
UTSW |
19 |
6,311,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Atg2a
|
UTSW |
19 |
6,291,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Atg2a
|
UTSW |
19 |
6,310,022 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9570:Atg2a
|
UTSW |
19 |
6,305,749 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9642:Atg2a
|
UTSW |
19 |
6,300,198 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Atg2a
|
UTSW |
19 |
6,308,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCCAAGTTCAGTACAGC -3'
(R):5'- CAGATGCACTCTTACCATGTTG -3'
Sequencing Primer
(F):5'- CCAAGTTCAGTACAGCTAGATTGGTG -3'
(R):5'- ATGCACTCTTACCATGTTGGAGTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation