Incidental Mutation 'R2020:Atg2a'
ID |
223903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2a
|
Ensembl Gene |
ENSMUSG00000024773 |
Gene Name |
autophagy related 2A |
Synonyms |
1810013C15Rik |
MMRRC Submission |
040029-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R2020 (G1)
|
Quality Score |
225 |
Status
|
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 C
at 6300299 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: ENSMUST00000135018
|
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 |
|
Meta Mutation Damage Score |
0.9497 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
99% (87/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
C |
A |
1: 158,796,482 (GRCm39) |
|
noncoding transcript |
Het |
Adam17 |
G |
A |
12: 21,399,876 (GRCm39) |
R177C |
probably damaging |
Het |
Ak7 |
G |
A |
12: 105,711,591 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
C |
5: 4,011,967 (GRCm39) |
V890A |
probably damaging |
Het |
Alg6 |
A |
G |
4: 99,626,369 (GRCm39) |
N59S |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,429,375 (GRCm39) |
A43S |
probably benign |
Het |
Anxa2 |
C |
A |
9: 69,391,099 (GRCm39) |
D162E |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,050,725 (GRCm39) |
H1136R |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,730,900 (GRCm39) |
R121G |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,762,891 (GRCm39) |
T716S |
unknown |
Het |
Ccdc27 |
T |
C |
4: 154,117,770 (GRCm39) |
I480V |
probably null |
Het |
Cdipt |
T |
C |
7: 126,576,105 (GRCm39) |
V20A |
possibly damaging |
Het |
Cgrrf1 |
C |
T |
14: 47,067,902 (GRCm39) |
|
probably benign |
Het |
Chd7 |
G |
A |
4: 8,855,226 (GRCm39) |
V2152I |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,452,698 (GRCm39) |
S1274C |
probably damaging |
Het |
Chuk |
A |
T |
19: 44,095,782 (GRCm39) |
M17K |
possibly damaging |
Het |
Col14a1 |
C |
T |
15: 55,309,577 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
G |
A |
2: 180,654,956 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
G |
6: 22,143,963 (GRCm39) |
I570V |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Ddx27 |
A |
C |
2: 166,875,691 (GRCm39) |
Q674P |
probably damaging |
Het |
Dennd6a |
T |
A |
14: 26,333,158 (GRCm39) |
F131L |
probably damaging |
Het |
Dhx38 |
G |
A |
8: 110,283,501 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
T |
2: 180,301,378 (GRCm39) |
N2175K |
unknown |
Het |
Dmxl1 |
T |
A |
18: 50,022,625 (GRCm39) |
Y1654* |
probably null |
Het |
Dock7 |
T |
A |
4: 98,847,338 (GRCm39) |
H1658L |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,162,925 (GRCm39) |
I555V |
probably benign |
Het |
Eif2ak2 |
T |
C |
17: 79,171,392 (GRCm39) |
E337G |
possibly damaging |
Het |
Fabp12 |
T |
A |
3: 10,315,209 (GRCm39) |
D46V |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,855,019 (GRCm39) |
S1882P |
probably benign |
Het |
Fech |
C |
T |
18: 64,611,798 (GRCm39) |
E79K |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,444,362 (GRCm39) |
I693F |
probably damaging |
Het |
Foxp2 |
G |
A |
6: 15,324,643 (GRCm39) |
C97Y |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,710,894 (GRCm39) |
M884T |
probably benign |
Het |
Gtf2ird1 |
T |
C |
5: 134,445,947 (GRCm39) |
D28G |
probably damaging |
Het |
Gtf3c4 |
C |
A |
2: 28,723,906 (GRCm39) |
G468W |
possibly damaging |
Het |
Ift172 |
A |
T |
5: 31,424,585 (GRCm39) |
L201* |
probably null |
Het |
Ift70a1 |
A |
G |
2: 75,811,279 (GRCm39) |
V268A |
probably benign |
Het |
Il1rl2 |
C |
A |
1: 40,404,374 (GRCm39) |
S498R |
probably damaging |
Het |
Ildr1 |
C |
T |
16: 36,545,903 (GRCm39) |
R489W |
probably damaging |
Het |
Itga10 |
G |
A |
3: 96,559,806 (GRCm39) |
G487D |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,448,640 (GRCm39) |
N128D |
probably benign |
Het |
Lgr6 |
G |
A |
1: 135,003,013 (GRCm39) |
T79M |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,620,651 (GRCm39) |
T232A |
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,469,060 (GRCm39) |
L328P |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,824,163 (GRCm39) |
Y138H |
probably damaging |
Het |
Ngef |
T |
C |
1: 87,473,690 (GRCm39) |
R31G |
probably benign |
Het |
Nipsnap2 |
C |
A |
5: 129,830,287 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
G |
T |
11: 69,719,267 (GRCm39) |
N194K |
probably damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,664 (GRCm39) |
V281M |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Or5b98 |
G |
A |
19: 12,931,696 (GRCm39) |
V248I |
possibly damaging |
Het |
Or5m13b |
A |
G |
2: 85,754,087 (GRCm39) |
I158M |
probably benign |
Het |
Or8c16 |
A |
G |
9: 38,130,728 (GRCm39) |
Y203C |
possibly damaging |
Het |
Pcca |
T |
A |
14: 123,050,634 (GRCm39) |
M101K |
possibly damaging |
Het |
Plekha6 |
A |
G |
1: 133,212,708 (GRCm39) |
T671A |
possibly damaging |
Het |
Prex2 |
G |
A |
1: 11,232,536 (GRCm39) |
V868M |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,284,332 (GRCm39) |
V501I |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,168,595 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 76,051,398 (GRCm39) |
V41A |
probably damaging |
Het |
Rab39 |
C |
T |
9: 53,597,698 (GRCm39) |
G189E |
possibly damaging |
Het |
Ret |
T |
C |
6: 118,157,343 (GRCm39) |
K236E |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,596,153 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,352,744 (GRCm39) |
T3916A |
probably damaging |
Het |
Rpn1 |
A |
G |
6: 88,072,665 (GRCm39) |
N336S |
probably damaging |
Het |
Sag |
G |
A |
1: 87,733,037 (GRCm39) |
A2T |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,256,063 (GRCm39) |
Y197C |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,408,864 (GRCm39) |
I183T |
possibly damaging |
Het |
Sec24b |
C |
T |
3: 129,781,377 (GRCm39) |
V1166M |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,727,339 (GRCm39) |
F361Y |
probably damaging |
Het |
Spaca9 |
A |
G |
2: 28,586,013 (GRCm39) |
L17P |
probably damaging |
Het |
Sqor |
T |
C |
2: 122,646,027 (GRCm39) |
|
probably null |
Het |
Stx18 |
A |
G |
5: 38,292,588 (GRCm39) |
H230R |
probably damaging |
Het |
Tas2r130 |
A |
T |
6: 131,607,732 (GRCm39) |
I21N |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,570,658 (GRCm39) |
S365P |
possibly damaging |
Het |
Tinagl1 |
G |
A |
4: 130,060,765 (GRCm39) |
H351Y |
probably damaging |
Het |
Tmc2 |
T |
C |
2: 130,074,305 (GRCm39) |
Y333H |
probably damaging |
Het |
Trp53bp2 |
A |
T |
1: 182,270,384 (GRCm39) |
T395S |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,773 (GRCm39) |
S751P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,657,368 (GRCm39) |
|
probably benign |
Het |
Ugdh |
T |
C |
5: 65,574,268 (GRCm39) |
Y425C |
probably damaging |
Het |
Vmn1r115 |
G |
A |
7: 20,578,094 (GRCm39) |
L273F |
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,761,448 (GRCm39) |
C636* |
probably null |
Het |
Vmn2r59 |
A |
C |
7: 41,693,203 (GRCm39) |
Y466D |
probably damaging |
Het |
Zic5 |
C |
T |
14: 122,702,242 (GRCm39) |
G163D |
unknown |
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 |
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 |
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'- AGTGTTTCGTCTCTCAGCAC -3'
(R):5'- GATTCAGAGCTTTGGAGACCCG -3'
Sequencing Primer
(F):5'- ACCCTGAGGCTACGCTTC -3'
(R):5'- TTCGTAGATTCCTGGAGG -3'
|
Posted On |
2014-08-25 |