Incidental Mutation 'R2513:Atg2a'
ID |
253724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2a
|
Ensembl Gene |
ENSMUSG00000024773 |
Gene Name |
autophagy related 2A |
Synonyms |
1810013C15Rik |
MMRRC Submission |
040419-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R2513 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 6308076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
AlphaFold |
Q6P4T0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045351
|
SMART Domains |
Protein: ENSMUSP00000046412 Gene: ENSMUSG00000024773
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 |
probably null
Transcript: ENSMUST00000145600
|
SMART Domains |
Protein: ENSMUSP00000114998 Gene: ENSMUSG00000024773
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,383,809 (GRCm39) |
T719A |
possibly damaging |
Het |
Abcc1 |
A |
G |
16: 14,290,873 (GRCm39) |
|
probably null |
Het |
Aftph |
C |
T |
11: 20,658,676 (GRCm39) |
|
probably null |
Het |
Als2 |
C |
A |
1: 59,254,276 (GRCm39) |
K360N |
probably benign |
Het |
Axl |
T |
C |
7: 25,486,941 (GRCm39) |
D22G |
probably benign |
Het |
Baiap2 |
G |
A |
11: 119,890,052 (GRCm39) |
A438T |
probably benign |
Het |
Bean1 |
G |
C |
8: 104,908,643 (GRCm39) |
A7P |
probably benign |
Het |
Birc6 |
C |
G |
17: 74,954,724 (GRCm39) |
P3431R |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,719,047 (GRCm39) |
M1T |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,741,295 (GRCm39) |
Y1027H |
probably damaging |
Het |
Ccdc6 |
G |
A |
10: 70,023,658 (GRCm39) |
|
probably benign |
Het |
Cemip |
C |
A |
7: 83,591,233 (GRCm39) |
V1280L |
probably benign |
Het |
Cfap58 |
C |
A |
19: 47,950,981 (GRCm39) |
N447K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,251,471 (GRCm39) |
L520P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,531,223 (GRCm39) |
|
probably null |
Het |
Cpne7 |
A |
C |
8: 123,844,406 (GRCm39) |
|
probably null |
Het |
Ctla4 |
T |
C |
1: 60,951,723 (GRCm39) |
V84A |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,835,565 (GRCm39) |
V263A |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,549,378 (GRCm39) |
|
probably null |
Het |
Dlg5 |
C |
A |
14: 24,214,593 (GRCm39) |
K663N |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,656,719 (GRCm39) |
F196L |
possibly damaging |
Het |
Eif2ak4 |
C |
A |
2: 118,257,064 (GRCm39) |
D402E |
probably damaging |
Het |
Fance |
T |
C |
17: 28,537,068 (GRCm39) |
V24A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,705,574 (GRCm39) |
L1149Q |
probably damaging |
Het |
Fcgbpl1 |
C |
G |
7: 27,831,060 (GRCm39) |
S91C |
probably damaging |
Het |
Flg |
T |
A |
3: 93,187,093 (GRCm39) |
S182T |
possibly damaging |
Het |
Gm128 |
T |
A |
3: 95,147,293 (GRCm39) |
S334C |
possibly damaging |
Het |
Gm3727 |
A |
C |
14: 7,264,561 (GRCm38) |
H31Q |
probably damaging |
Het |
Gm4841 |
T |
G |
18: 60,403,977 (GRCm39) |
T39P |
probably damaging |
Het |
Golgb1 |
G |
T |
16: 36,735,513 (GRCm39) |
V1587L |
possibly damaging |
Het |
Golm1 |
G |
A |
13: 59,790,072 (GRCm39) |
P243S |
probably benign |
Het |
Gstcd |
C |
A |
3: 132,788,081 (GRCm39) |
A206S |
possibly damaging |
Het |
Gstcd |
C |
A |
3: 132,788,082 (GRCm39) |
K205N |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,280,345 (GRCm39) |
V355A |
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,236 (GRCm39) |
D173G |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,395,994 (GRCm39) |
C660S |
probably benign |
Het |
Kctd8 |
T |
C |
5: 69,267,988 (GRCm39) |
D374G |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,878,594 (GRCm39) |
I229V |
possibly damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,809,505 (GRCm39) |
I702F |
probably benign |
Het |
Lce1d |
T |
C |
3: 92,593,066 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
C |
T |
6: 94,594,347 (GRCm39) |
|
probably null |
Het |
Lrp12 |
A |
T |
15: 39,739,507 (GRCm39) |
D563E |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,336,718 (GRCm39) |
|
probably null |
Het |
Map3k5 |
G |
A |
10: 19,970,201 (GRCm39) |
V703I |
possibly damaging |
Het |
Mecr |
A |
G |
4: 131,581,076 (GRCm39) |
R110G |
probably benign |
Het |
Mtrr |
T |
A |
13: 68,715,092 (GRCm39) |
K445* |
probably null |
Het |
Nanos1 |
T |
A |
19: 60,744,990 (GRCm39) |
L96Q |
probably benign |
Het |
Or13a24 |
T |
G |
7: 140,154,069 (GRCm39) |
M1R |
probably null |
Het |
Or51t4 |
T |
A |
7: 102,598,700 (GRCm39) |
F333I |
probably benign |
Het |
Or6c214 |
T |
A |
10: 129,591,021 (GRCm39) |
L99F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,955,014 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
T |
18: 37,434,294 (GRCm39) |
V87F |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,434,292 (GRCm39) |
L86* |
probably null |
Het |
Pcdhb3 |
A |
T |
18: 37,434,293 (GRCm39) |
L86F |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,894 (GRCm39) |
K322E |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,846,217 (GRCm39) |
S648P |
probably damaging |
Het |
Pigr |
T |
C |
1: 130,774,357 (GRCm39) |
S446P |
possibly damaging |
Het |
Pik3cb |
A |
C |
9: 98,943,895 (GRCm39) |
L636W |
probably damaging |
Het |
Pla2g2f |
A |
T |
4: 138,481,473 (GRCm39) |
L92Q |
probably damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prkar2b |
C |
T |
12: 32,025,928 (GRCm39) |
V191I |
possibly damaging |
Het |
Prune1 |
C |
A |
3: 95,165,430 (GRCm39) |
A281S |
probably benign |
Het |
Ptges3l |
A |
T |
11: 101,314,868 (GRCm39) |
C42S |
possibly damaging |
Het |
Reg3b |
A |
T |
6: 78,348,802 (GRCm39) |
I33L |
probably benign |
Het |
Rel |
A |
G |
11: 23,695,823 (GRCm39) |
I188T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ripor1 |
G |
T |
8: 106,344,254 (GRCm39) |
V463L |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,109,896 (GRCm39) |
D510E |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,440,436 (GRCm39) |
S202P |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,432,889 (GRCm39) |
D1211E |
probably benign |
Het |
Slc30a1 |
A |
T |
1: 191,639,674 (GRCm39) |
T186S |
possibly damaging |
Het |
Slc4a4 |
G |
A |
5: 89,304,257 (GRCm39) |
V523I |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,781,768 (GRCm39) |
|
probably null |
Het |
Smg6 |
A |
G |
11: 74,820,502 (GRCm39) |
T258A |
probably damaging |
Het |
Sptlc1 |
C |
T |
13: 53,491,676 (GRCm39) |
D408N |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,632,150 (GRCm39) |
L784I |
possibly damaging |
Het |
Tbl3 |
T |
C |
17: 24,923,524 (GRCm39) |
|
probably null |
Het |
Tdo2 |
T |
C |
3: 81,876,812 (GRCm39) |
D139G |
possibly damaging |
Het |
Ticam1 |
T |
A |
17: 56,578,612 (GRCm39) |
H161L |
possibly damaging |
Het |
Tnfaip3 |
T |
A |
10: 18,881,407 (GRCm39) |
D293V |
probably benign |
Het |
Trim72 |
G |
A |
7: 127,603,878 (GRCm39) |
V75M |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,803,986 (GRCm39) |
N1632I |
possibly damaging |
Het |
Tspan18 |
A |
T |
2: 93,050,440 (GRCm39) |
M61K |
possibly damaging |
Het |
Tuba8 |
A |
T |
6: 121,202,932 (GRCm39) |
E415V |
probably damaging |
Het |
Ung |
A |
G |
5: 114,275,253 (GRCm39) |
H214R |
probably benign |
Het |
Uqcrc1 |
T |
C |
9: 108,765,836 (GRCm39) |
L17P |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,236,602 (GRCm39) |
|
probably null |
Het |
Vps39 |
A |
C |
2: 120,169,268 (GRCm39) |
Y245D |
probably damaging |
Het |
Whrn |
T |
A |
4: 63,353,649 (GRCm39) |
T373S |
probably benign |
Het |
Zc2hc1a |
C |
T |
3: 7,581,596 (GRCm39) |
|
probably null |
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 |
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'- TGAGGCTCAATGTGGACCAG -3'
(R):5'- GTAGATAGGCTGCTGGTCAGAG -3'
Sequencing Primer
(F):5'- CTCAATGTGGACCAGGTGAGTAGATC -3'
(R):5'- TACTGCCTGGAGCTTCCG -3'
|
Posted On |
2014-12-04 |