Incidental Mutation 'R4926:Atg2a'
ID |
379073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2a
|
Ensembl Gene |
ENSMUSG00000024773 |
Gene Name |
autophagy related 2A |
Synonyms |
1810013C15Rik |
MMRRC Submission |
042527-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R4926 (G1)
|
Quality Score |
145 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6307563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1499
(L1499P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
AlphaFold |
Q6P4T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045351
AA Change: L1499P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046412 Gene: ENSMUSG00000024773 AA Change: L1499P
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: L1302P
|
SMART Domains |
Protein: ENSMUSP00000114998 Gene: ENSMUSG00000024773 AA Change: L1302P
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
99% (87/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
T |
9: 108,272,498 (GRCm39) |
D136V |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,447,891 (GRCm39) |
R217W |
probably damaging |
Het |
Ankrd23 |
A |
T |
1: 36,571,068 (GRCm39) |
H102Q |
probably damaging |
Het |
Arfip2 |
G |
T |
7: 105,287,151 (GRCm39) |
R138S |
probably damaging |
Het |
Arhgap27 |
A |
T |
11: 103,229,949 (GRCm39) |
|
probably null |
Het |
Bnc2 |
A |
G |
4: 84,194,416 (GRCm39) |
S110P |
probably damaging |
Het |
Ccdc171 |
T |
C |
4: 83,476,829 (GRCm39) |
|
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,535 (GRCm39) |
|
probably benign |
Het |
Chd5 |
T |
C |
4: 152,467,768 (GRCm39) |
S1689P |
probably benign |
Het |
Corin |
A |
G |
5: 72,529,525 (GRCm39) |
C212R |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,049,597 (GRCm39) |
I42V |
probably benign |
Het |
Cyp3a25 |
G |
A |
5: 145,928,266 (GRCm39) |
R260C |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,757,087 (GRCm39) |
Y116C |
probably damaging |
Het |
Eif3a |
A |
G |
19: 60,751,656 (GRCm39) |
|
probably benign |
Het |
Epop |
T |
C |
11: 97,519,143 (GRCm39) |
D322G |
probably damaging |
Het |
Eps8l3 |
T |
A |
3: 107,798,004 (GRCm39) |
|
probably benign |
Het |
Exph5 |
T |
C |
9: 53,287,925 (GRCm39) |
S1669P |
possibly damaging |
Het |
Faah |
A |
T |
4: 115,856,823 (GRCm39) |
|
probably benign |
Het |
Fanca |
A |
G |
8: 124,030,724 (GRCm39) |
C453R |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,660 (GRCm39) |
C366S |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,329,981 (GRCm39) |
T124A |
unknown |
Het |
Foxi3 |
C |
T |
6: 70,933,996 (GRCm39) |
S161L |
probably damaging |
Het |
Foxo3 |
A |
T |
10: 42,073,020 (GRCm39) |
V499E |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
Gm839 |
A |
C |
6: 89,189,581 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,197,199 (GRCm39) |
T413A |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,269,841 (GRCm39) |
Y2297H |
probably damaging |
Het |
Ighv1-81 |
T |
A |
12: 115,884,093 (GRCm39) |
I53L |
probably benign |
Het |
Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,946,521 (GRCm39) |
V412A |
possibly damaging |
Het |
Map4k4 |
A |
T |
1: 40,056,385 (GRCm39) |
E1023D |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,584,758 (GRCm39) |
L118* |
probably null |
Het |
Mrgpra9 |
T |
A |
7: 46,884,759 (GRCm39) |
T303S |
possibly damaging |
Het |
Mterf4 |
T |
C |
1: 93,232,647 (GRCm39) |
E68G |
probably benign |
Het |
Nckap5 |
A |
C |
1: 126,456,378 (GRCm39) |
|
probably benign |
Het |
Nox3 |
T |
A |
17: 3,720,169 (GRCm39) |
T339S |
probably damaging |
Het |
Nrip2 |
A |
C |
6: 128,385,337 (GRCm39) |
H256P |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,053,831 (GRCm39) |
V97A |
probably benign |
Het |
Obox2 |
T |
A |
7: 15,131,102 (GRCm39) |
|
probably null |
Het |
Opa1 |
T |
C |
16: 29,467,791 (GRCm39) |
F989S |
possibly damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,319 (GRCm39) |
|
probably null |
Het |
Padi1 |
T |
A |
4: 140,552,158 (GRCm39) |
I429F |
probably damaging |
Het |
Paics |
A |
G |
5: 77,109,051 (GRCm39) |
D163G |
probably damaging |
Het |
Pik3c2b |
G |
T |
1: 133,027,364 (GRCm39) |
E1288* |
probably null |
Het |
Prdm16 |
A |
T |
4: 154,426,009 (GRCm39) |
V593D |
possibly damaging |
Het |
Prpf39 |
A |
G |
12: 65,090,830 (GRCm39) |
I165M |
possibly damaging |
Het |
Pth2r |
A |
G |
1: 65,361,143 (GRCm39) |
T26A |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
Rab44 |
C |
T |
17: 29,358,529 (GRCm39) |
A239V |
probably benign |
Het |
Rtcb |
T |
C |
10: 85,791,600 (GRCm39) |
N52S |
probably benign |
Het |
Sapcd2 |
T |
A |
2: 25,263,578 (GRCm39) |
|
probably null |
Het |
Scaf11 |
T |
C |
15: 96,316,123 (GRCm39) |
E1147G |
possibly damaging |
Het |
Selenoo |
T |
C |
15: 88,983,881 (GRCm39) |
Y595H |
probably damaging |
Het |
Slc2a5 |
G |
T |
4: 150,205,199 (GRCm39) |
E3* |
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,249,254 (GRCm39) |
K755R |
probably benign |
Het |
Sorbs3 |
G |
T |
14: 70,424,394 (GRCm39) |
P513T |
probably damaging |
Het |
Sowaha |
T |
A |
11: 53,370,337 (GRCm39) |
E133V |
possibly damaging |
Het |
Srsf5 |
T |
C |
12: 80,994,075 (GRCm39) |
|
probably benign |
Het |
St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
Tcp11l1 |
T |
C |
2: 104,512,130 (GRCm39) |
I501V |
probably benign |
Het |
Tert |
A |
G |
13: 73,796,508 (GRCm39) |
K1080E |
possibly damaging |
Het |
Tescl |
T |
A |
7: 24,033,323 (GRCm39) |
M1L |
possibly damaging |
Het |
Thop1 |
T |
A |
10: 80,909,201 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
T |
C |
14: 123,210,618 (GRCm39) |
H80R |
probably damaging |
Het |
Toe1 |
C |
T |
4: 116,661,729 (GRCm39) |
S480N |
probably damaging |
Het |
Trap1 |
C |
A |
16: 3,863,352 (GRCm39) |
V557F |
probably benign |
Het |
Trim30d |
T |
C |
7: 104,132,564 (GRCm39) |
E91G |
probably benign |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Ttll8 |
C |
A |
15: 88,798,368 (GRCm39) |
G789V |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,087,798 (GRCm39) |
F298S |
probably benign |
Het |
Wwc1 |
C |
T |
11: 35,780,227 (GRCm39) |
A243T |
probably benign |
Het |
Zfp248 |
A |
C |
6: 118,406,787 (GRCm39) |
H267Q |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,321,785 (GRCm39) |
M945L |
probably benign |
Het |
Zup1 |
T |
C |
10: 33,825,434 (GRCm39) |
D16G |
probably 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 |
|
R2071:Atg2a
|
UTSW |
19 |
6,307,488 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- ATTTCCCACCCATAGAGGTGG -3'
(R):5'- TGACTGCCATCAACCCTGTC -3'
Sequencing Primer
(F):5'- CAGGGACAGGAAGGTTCTCTG -3'
(R):5'- GTCCTTCACACACACCTTCAGG -3'
|
Posted On |
2016-04-15 |