Incidental Mutation 'R8810:Atg2a'
ID |
672393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2a
|
Ensembl Gene |
ENSMUSG00000024773 |
Gene Name |
autophagy related 2A |
Synonyms |
1810013C15Rik |
MMRRC Submission |
068725-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
R8810 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 6300651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 743
(S743A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
AlphaFold |
Q6P4T0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045351
AA Change: S743A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000046412 Gene: ENSMUSG00000024773 AA Change: S743A
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 |
|
SMART Domains |
Protein: ENSMUSP00000114998 Gene: ENSMUSG00000024773 AA Change: S544A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
99% (82/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,749,452 (GRCm39) |
S1408P |
probably damaging |
Het |
Acap3 |
T |
C |
4: 155,990,169 (GRCm39) |
V783A |
probably damaging |
Het |
Akap8 |
T |
C |
17: 32,525,504 (GRCm39) |
N525S |
probably damaging |
Het |
Aqp1 |
C |
T |
6: 55,313,606 (GRCm39) |
T44M |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,053,585 (GRCm39) |
Y1305H |
probably damaging |
Het |
AW551984 |
G |
T |
9: 39,511,307 (GRCm39) |
L133I |
probably damaging |
Het |
Bahcc1 |
C |
A |
11: 120,164,587 (GRCm39) |
P802T |
possibly damaging |
Het |
Brd8 |
C |
A |
18: 34,743,002 (GRCm39) |
V288L |
probably benign |
Het |
Carmil2 |
T |
C |
8: 106,412,947 (GRCm39) |
|
probably null |
Het |
Catspere2 |
G |
A |
1: 177,905,048 (GRCm39) |
E153K |
possibly damaging |
Het |
Ccdc162 |
C |
T |
10: 41,542,737 (GRCm39) |
R379Q |
probably benign |
Het |
Cd200l1 |
T |
C |
16: 45,264,199 (GRCm39) |
T120A |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,341,136 (GRCm39) |
L116P |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,796,076 (GRCm39) |
H260Q |
possibly damaging |
Het |
Cenpq |
A |
G |
17: 41,244,027 (GRCm39) |
V17A |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,803,862 (GRCm39) |
K1074E |
probably damaging |
Het |
Chil4 |
C |
A |
3: 106,109,121 (GRCm39) |
C394F |
probably damaging |
Het |
Chst9 |
T |
C |
18: 15,850,983 (GRCm39) |
I28V |
probably benign |
Het |
Clasp2 |
C |
A |
9: 113,728,649 (GRCm39) |
N873K |
probably damaging |
Het |
Clec4b2 |
T |
A |
6: 123,158,269 (GRCm39) |
M45K |
probably benign |
Het |
Cmya5 |
T |
A |
13: 93,200,048 (GRCm39) |
T3427S |
possibly damaging |
Het |
Cnih4 |
A |
G |
1: 180,989,777 (GRCm39) |
Y130C |
probably damaging |
Het |
Cpne9 |
T |
A |
6: 113,281,506 (GRCm39) |
M529K |
probably damaging |
Het |
Crppa |
A |
T |
12: 36,440,481 (GRCm39) |
N130Y |
probably damaging |
Het |
Ctsr |
T |
A |
13: 61,309,639 (GRCm39) |
Y190F |
probably damaging |
Het |
Cyp2j13 |
G |
A |
4: 95,945,153 (GRCm39) |
H351Y |
probably benign |
Het |
Dixdc1 |
T |
A |
9: 50,613,265 (GRCm39) |
Q230L |
probably damaging |
Het |
Dpep1 |
A |
T |
8: 123,926,764 (GRCm39) |
I226F |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,805,721 (GRCm39) |
N3076I |
unknown |
Het |
Ehd2 |
A |
G |
7: 15,691,603 (GRCm39) |
V243A |
probably benign |
Het |
Etnk2 |
T |
A |
1: 133,306,232 (GRCm39) |
Y353N |
probably benign |
Het |
Fgg |
G |
T |
3: 82,920,322 (GRCm39) |
G367V |
probably damaging |
Het |
Gm9772 |
T |
C |
17: 22,225,310 (GRCm39) |
*61Q |
probably null |
Het |
Grk5 |
T |
G |
19: 61,078,432 (GRCm39) |
D496E |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,909,535 (GRCm39) |
N915S |
probably benign |
Het |
Iah1 |
G |
T |
12: 21,367,388 (GRCm39) |
Q31H |
probably benign |
Het |
Insr |
T |
C |
8: 3,219,714 (GRCm39) |
D936G |
probably benign |
Het |
Ints6 |
A |
C |
14: 62,939,902 (GRCm39) |
V596G |
probably benign |
Het |
Kcnj16 |
A |
G |
11: 110,915,677 (GRCm39) |
D113G |
possibly damaging |
Het |
Kdm4b |
A |
T |
17: 56,706,771 (GRCm39) |
I928F |
probably damaging |
Het |
Lrrc41 |
C |
T |
4: 115,932,488 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
G |
A |
8: 4,285,070 (GRCm39) |
V432I |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,458,501 (GRCm39) |
E336G |
probably benign |
Het |
Maml2 |
C |
A |
9: 13,532,918 (GRCm39) |
Q711K |
|
Het |
Map3k14 |
T |
C |
11: 103,118,498 (GRCm39) |
T563A |
possibly damaging |
Het |
Mcu |
T |
A |
10: 59,303,535 (GRCm39) |
K101* |
probably null |
Het |
Mettl22 |
T |
A |
16: 8,303,792 (GRCm39) |
V286E |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,845,516 (GRCm39) |
N1396K |
possibly damaging |
Het |
Mprip |
T |
C |
11: 59,587,851 (GRCm39) |
|
probably benign |
Het |
Mrpl51 |
C |
T |
6: 125,170,344 (GRCm39) |
L117F |
probably damaging |
Het |
Myo1d |
C |
A |
11: 80,565,758 (GRCm39) |
V356F |
probably damaging |
Het |
Myo1d |
T |
A |
11: 80,567,758 (GRCm39) |
I241F |
probably benign |
Het |
Naalad2 |
A |
T |
9: 18,297,230 (GRCm39) |
|
probably benign |
Het |
Nacad |
T |
C |
11: 6,552,853 (GRCm39) |
T113A |
probably benign |
Het |
Nrap |
T |
A |
19: 56,352,843 (GRCm39) |
|
probably benign |
Het |
Or10b1 |
G |
A |
10: 78,356,284 (GRCm39) |
V281M |
possibly damaging |
Het |
Or2z2 |
T |
C |
11: 58,345,936 (GRCm39) |
T280A |
possibly damaging |
Het |
Or56b2 |
T |
A |
7: 104,337,387 (GRCm39) |
I55N |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
Or5w1 |
T |
C |
2: 87,486,591 (GRCm39) |
I225V |
possibly damaging |
Het |
Or6z3 |
T |
C |
7: 6,463,763 (GRCm39) |
L85P |
probably damaging |
Het |
Osbpl3 |
T |
C |
6: 50,328,852 (GRCm39) |
D117G |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,773,981 (GRCm39) |
R318* |
probably null |
Het |
Pcdhb18 |
A |
G |
18: 37,623,374 (GRCm39) |
I235V |
probably benign |
Het |
Pex16 |
T |
G |
2: 92,209,366 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,248,034 (GRCm39) |
M489L |
probably benign |
Het |
Pmepa1 |
C |
A |
2: 173,069,628 (GRCm39) |
G271V |
probably damaging |
Het |
Safb |
A |
G |
17: 56,910,579 (GRCm39) |
E659G |
unknown |
Het |
Scn9a |
T |
C |
2: 66,332,010 (GRCm39) |
T1289A |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,617,596 (GRCm39) |
D27G |
possibly damaging |
Het |
Serpina1f |
A |
G |
12: 103,660,240 (GRCm39) |
V14A |
probably benign |
Het |
Serpinb9b |
C |
A |
13: 33,213,452 (GRCm39) |
T3N |
possibly damaging |
Het |
Sfxn5 |
C |
T |
6: 85,206,182 (GRCm39) |
M315I |
probably benign |
Het |
Slc9b2 |
A |
G |
3: 135,035,530 (GRCm39) |
D333G |
probably benign |
Het |
Sostdc1 |
A |
G |
12: 36,367,229 (GRCm39) |
N135S |
possibly damaging |
Het |
Spg11 |
T |
G |
2: 121,901,425 (GRCm39) |
D1505A |
probably damaging |
Het |
Spmip8 |
A |
T |
8: 96,047,883 (GRCm39) |
|
probably benign |
Het |
Taar7a |
T |
C |
10: 23,869,279 (GRCm39) |
N34S |
probably benign |
Het |
Tcerg1l |
C |
A |
7: 137,811,526 (GRCm39) |
R556L |
possibly damaging |
Het |
Tcp11l1 |
T |
C |
2: 104,518,763 (GRCm39) |
K311R |
probably benign |
Het |
Trbv16 |
T |
G |
6: 41,128,972 (GRCm39) |
F52C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,726,016 (GRCm39) |
R6073S |
unknown |
Het |
Uba1y |
T |
C |
Y: 828,818 (GRCm39) |
I542T |
possibly damaging |
Het |
Vmn1r214 |
T |
C |
13: 23,219,082 (GRCm39) |
I192T |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 84,786,346 (GRCm39) |
C553Y |
probably damaging |
Het |
Zdhhc17 |
G |
T |
10: 110,784,121 (GRCm39) |
H452N |
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 |
|
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 |
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'- CCCTCCAGGAATCTACGAAGATG -3'
(R):5'- GCCCAGTCCCATAAATGGTG -3'
Sequencing Primer
(F):5'- TGGAGAGAAGCCACCAGTCC -3'
(R):5'- CCATAAATGGTGCCCACAGTGG -3'
|
Posted On |
2021-04-30 |