Incidental Mutation 'R8062:Atg2a'
| ID |
619825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2a
|
| Ensembl Gene |
ENSMUSG00000024773 |
| Gene Name |
autophagy related 2A |
| Synonyms |
1810013C15Rik |
| MMRRC Submission |
067498-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
R8062 (G1)
|
| Quality Score |
225.009 |
|
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 C
at 6302609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
| 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 |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,427,773 (GRCm39) |
Y172N |
possibly damaging |
Het |
| Abhd2 |
T |
A |
7: 78,975,338 (GRCm39) |
M176K |
possibly damaging |
Het |
| Adamts14 |
A |
G |
10: 61,036,140 (GRCm39) |
|
probably null |
Het |
| Bach2 |
G |
A |
4: 32,562,937 (GRCm39) |
G468E |
probably damaging |
Het |
| Bap1 |
T |
A |
14: 30,979,465 (GRCm39) |
N489K |
probably benign |
Het |
| Btaf1 |
G |
A |
19: 36,969,865 (GRCm39) |
V1180I |
probably benign |
Het |
| Calm5 |
A |
G |
13: 3,904,405 (GRCm39) |
H33R |
probably benign |
Het |
| Cby2 |
A |
T |
14: 75,830,046 (GRCm39) |
I49N |
probably benign |
Het |
| Cnr1 |
T |
A |
4: 33,944,707 (GRCm39) |
V365E |
possibly damaging |
Het |
| Crym |
A |
C |
7: 119,800,391 (GRCm39) |
V77G |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,103,587 (GRCm39) |
E316V |
probably null |
Het |
| Dab2 |
G |
A |
15: 6,456,822 (GRCm39) |
G233D |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,747,611 (GRCm39) |
S108T |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Duxf1 |
G |
A |
10: 58,059,632 (GRCm39) |
A374V |
unknown |
Het |
| Duxf3 |
A |
C |
10: 58,066,750 (GRCm39) |
M93R |
probably benign |
Het |
| Duxf3 |
G |
A |
10: 58,066,889 (GRCm39) |
L537F |
probably damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,719,724 (GRCm39) |
F182L |
possibly damaging |
Het |
| Erlin1 |
T |
A |
19: 44,044,598 (GRCm39) |
K156I |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,568,126 (GRCm39) |
S1413P |
probably benign |
Het |
| Gm1110 |
G |
A |
9: 26,793,117 (GRCm39) |
A553V |
probably damaging |
Het |
| Gm3250 |
C |
A |
10: 77,618,234 (GRCm39) |
C48F |
unknown |
Het |
| Gm3604 |
T |
C |
13: 62,518,155 (GRCm39) |
S68G |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,450,739 (GRCm39) |
M464K |
probably benign |
Het |
| Gpr142 |
G |
A |
11: 114,697,357 (GRCm39) |
R301Q |
probably benign |
Het |
| Gria4 |
C |
T |
9: 4,480,273 (GRCm39) |
D392N |
possibly damaging |
Het |
| Grik2 |
T |
A |
10: 49,116,863 (GRCm39) |
T633S |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,399,461 (GRCm39) |
I54N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,366,064 (GRCm39) |
Y40H |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,876,196 (GRCm39) |
T23K |
possibly damaging |
Het |
| Iqank1 |
G |
A |
15: 75,918,603 (GRCm39) |
R508H |
probably benign |
Het |
| Itga6 |
T |
A |
2: 71,672,087 (GRCm39) |
F834L |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,629,928 (GRCm39) |
L251Q |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,498,760 (GRCm39) |
D558G |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,962,429 (GRCm39) |
|
probably null |
Het |
| Lcmt2 |
A |
G |
2: 120,970,753 (GRCm39) |
V110A |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,831,282 (GRCm39) |
R304C |
probably damaging |
Het |
| Lnpk |
T |
A |
2: 74,381,407 (GRCm39) |
I119L |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,210,264 (GRCm39) |
V626A |
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,866,544 (GRCm39) |
L700M |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,123 (GRCm39) |
W138R |
|
Het |
| Myh2 |
G |
T |
11: 67,084,209 (GRCm39) |
E1611* |
probably null |
Het |
| Myo9b |
T |
G |
8: 71,774,457 (GRCm39) |
S323A |
probably damaging |
Het |
| Or2n1c |
A |
T |
17: 38,520,065 (GRCm39) |
I310F |
probably benign |
Het |
| Or4c52 |
T |
A |
2: 89,846,080 (GRCm39) |
F269I |
possibly damaging |
Het |
| Or5t7 |
A |
C |
2: 86,507,410 (GRCm39) |
V89G |
probably benign |
Het |
| Or8b101 |
G |
T |
9: 38,020,213 (GRCm39) |
C72F |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,703 (GRCm39) |
M25K |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,960 (GRCm39) |
F571Y |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,119,152 (GRCm39) |
D1831G |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
G |
5: 3,655,656 (GRCm39) |
M161R |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,163,537 (GRCm39) |
D2127V |
possibly damaging |
Het |
| Plod3 |
A |
T |
5: 137,019,123 (GRCm39) |
H336L |
possibly damaging |
Het |
| Pp2d1 |
A |
T |
17: 53,822,798 (GRCm39) |
N89K |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,230 (GRCm39) |
S736P |
probably damaging |
Het |
| Prp2 |
C |
A |
6: 132,577,651 (GRCm39) |
Q313K |
unknown |
Het |
| Psma5 |
T |
G |
3: 108,173,795 (GRCm39) |
D90E |
probably benign |
Het |
| Reln |
G |
A |
5: 22,176,990 (GRCm39) |
T1892I |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rsf1 |
T |
G |
7: 97,326,594 (GRCm39) |
D1039E |
|
Het |
| Rtel1 |
A |
G |
2: 180,982,360 (GRCm39) |
D370G |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,490,022 (GRCm39) |
N447Y |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,828,321 (GRCm39) |
Y1222* |
probably null |
Het |
| Slc37a3 |
A |
T |
6: 39,341,530 (GRCm39) |
H35Q |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,480,779 (GRCm39) |
K210N |
unknown |
Het |
| Spata3 |
T |
C |
1: 85,952,148 (GRCm39) |
I134T |
unknown |
Het |
| Speer4d |
A |
T |
5: 15,825,437 (GRCm39) |
N54I |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,135,394 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
T |
15: 11,388,400 (GRCm39) |
F465Y |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,758,087 (GRCm39) |
N293K |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,239,986 (GRCm39) |
T98K |
unknown |
Het |
| Tnfsf8 |
G |
A |
4: 63,779,432 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,015,393 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,851,689 (GRCm39) |
K136E |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,783,764 (GRCm39) |
Y1741C |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,218 (GRCm39) |
D939G |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,440 (GRCm39) |
N26K |
probably damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,774,240 (GRCm39) |
|
probably null |
Het |
| Wdr3 |
T |
A |
3: 100,049,810 (GRCm39) |
M773L |
probably benign |
Het |
| Zfp993 |
T |
G |
4: 146,739,415 (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 |
|
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 |
|
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'- CAGCGGTGAAACTGAGCATG -3'
(R):5'- AAGGTTCCTCGCTCAGTCAC -3'
Sequencing Primer
(F):5'- ACTGAGCATGCGCACATCTG -3'
(R):5'- CCCTTCCTCTGATGGGTAGATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation