Incidental Mutation 'R9355:Atg2b'
| ID |
708369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R9355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105636980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 179
(P179S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041055
AA Change: P179S
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: P179S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
11 |
127 |
3.5e-19 |
PFAM |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
1722 |
1733 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1976 |
2071 |
1.4e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
A |
G |
7: 140,681,817 (GRCm39) |
V747A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,270,000 (GRCm39) |
P383L |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,630 (GRCm39) |
E407G |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,511,721 (GRCm39) |
L1188F |
probably damaging |
Het |
| Bcl9l |
G |
A |
9: 44,419,000 (GRCm39) |
R983H |
probably benign |
Het |
| Bmp2k |
T |
A |
5: 97,211,366 (GRCm39) |
Y511* |
probably null |
Het |
| C1galt1 |
G |
T |
6: 7,866,474 (GRCm39) |
V107F |
probably damaging |
Het |
| Car3 |
T |
A |
3: 14,928,664 (GRCm39) |
N11K |
|
Het |
| Ccdc170 |
A |
G |
10: 4,508,695 (GRCm39) |
R640G |
probably benign |
Het |
| Cep126 |
A |
G |
9: 8,100,038 (GRCm39) |
V832A |
possibly damaging |
Het |
| Ces1h |
C |
T |
8: 94,101,149 (GRCm39) |
V49I |
|
Het |
| Clasp2 |
T |
A |
9: 113,664,309 (GRCm39) |
V310D |
probably damaging |
Het |
| Comp |
C |
T |
8: 70,828,699 (GRCm39) |
T177M |
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,003,726 (GRCm39) |
S98G |
probably damaging |
Het |
| Cpa6 |
C |
T |
1: 10,479,520 (GRCm39) |
V238I |
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,962,094 (GRCm39) |
F397S |
probably damaging |
Het |
| Dcpp1 |
C |
A |
17: 24,099,987 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,543,144 (GRCm39) |
D533G |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,844,114 (GRCm39) |
S551T |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,253,890 (GRCm39) |
E524G |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,935,806 (GRCm39) |
Y476C |
probably damaging |
Het |
| Erich5 |
G |
T |
15: 34,471,001 (GRCm39) |
V77F |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,047 (GRCm39) |
Y3233C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,716 (GRCm39) |
V521E |
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gm5624 |
A |
T |
14: 44,799,272 (GRCm39) |
L95* |
probably null |
Het |
| Gphn |
A |
G |
12: 78,538,968 (GRCm39) |
T205A |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,767,597 (GRCm39) |
A28S |
possibly damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,120 (GRCm39) |
S300P |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,723 (GRCm39) |
L227P |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,328,302 (GRCm39) |
M4328L |
probably benign |
Het |
| Htt |
A |
T |
5: 35,053,247 (GRCm39) |
M2527L |
probably benign |
Het |
| Impdh2 |
A |
T |
9: 108,442,402 (GRCm39) |
H466L |
probably benign |
Het |
| Itgae |
G |
A |
11: 73,006,906 (GRCm39) |
G384D |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,461,714 (GRCm39) |
S496G |
unknown |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,114 (GRCm39) |
S179P |
unknown |
Het |
| Lif |
C |
T |
11: 4,219,044 (GRCm39) |
R63W |
probably damaging |
Het |
| Lrrc10 |
T |
C |
10: 116,881,881 (GRCm39) |
V185A |
probably damaging |
Het |
| Lrrc27 |
A |
C |
7: 138,822,648 (GRCm39) |
Q513P |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Map2k3 |
T |
C |
11: 60,823,055 (GRCm39) |
S3P |
possibly damaging |
Het |
| Mc2r |
T |
C |
18: 68,541,195 (GRCm39) |
T33A |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,525,882 (GRCm39) |
D795V |
probably damaging |
Het |
| Megf6 |
A |
T |
4: 154,338,282 (GRCm39) |
R451W |
probably damaging |
Het |
| Mrpl21 |
G |
A |
19: 3,336,937 (GRCm39) |
V103M |
probably damaging |
Het |
| Mtmr14 |
GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC |
GCCGCCGCCTC |
6: 113,214,948 (GRCm39) |
|
probably null |
Het |
| Myom1 |
T |
C |
17: 71,384,888 (GRCm39) |
S760P |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,403,246 (GRCm39) |
Y451C |
probably damaging |
Het |
| Nkain4 |
T |
C |
2: 180,577,775 (GRCm39) |
N193S |
possibly damaging |
Het |
| Opa1 |
T |
A |
16: 29,432,807 (GRCm39) |
L490H |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,814,650 (GRCm39) |
I301L |
probably benign |
Het |
| Or10ak16 |
G |
A |
4: 118,750,784 (GRCm39) |
S168N |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,643 (GRCm39) |
F103L |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,576,749 (GRCm39) |
I161N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,008,125 (GRCm39) |
H92R |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,884,469 (GRCm39) |
L402P |
probably benign |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Peak1 |
G |
T |
9: 56,167,454 (GRCm39) |
A158E |
probably damaging |
Het |
| Ppfibp2 |
C |
T |
7: 107,322,169 (GRCm39) |
P406L |
probably benign |
Het |
| Qpctl |
T |
C |
7: 18,875,146 (GRCm39) |
H362R |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,885,694 (GRCm39) |
H643R |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,584,160 (GRCm39) |
L1485Q |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,594,433 (GRCm39) |
I1761F |
probably damaging |
Het |
| Scrn3 |
A |
G |
2: 73,166,077 (GRCm39) |
D370G |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,787,489 (GRCm39) |
F877Y |
possibly damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,108,967 (GRCm39) |
I172T |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,622,544 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
| Sos1 |
T |
A |
17: 80,722,479 (GRCm39) |
I856F |
possibly damaging |
Het |
| Sp2 |
A |
T |
11: 96,852,231 (GRCm39) |
L231H |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,318,255 (GRCm39) |
Y457C |
probably damaging |
Het |
| Tdpoz6 |
T |
C |
3: 93,600,307 (GRCm39) |
T21A |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,213,268 (GRCm39) |
T6A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,262,529 (GRCm39) |
T574K |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,633,821 (GRCm39) |
S313P |
probably damaging |
Het |
| Trmt12 |
G |
A |
15: 58,744,824 (GRCm39) |
C74Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,649,473 (GRCm39) |
D561G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,700,769 (GRCm39) |
V62A |
|
Het |
| Tubgcp5 |
T |
C |
7: 55,467,177 (GRCm39) |
|
probably null |
Het |
| Unc13a |
C |
T |
8: 72,098,375 (GRCm39) |
V1137M |
possibly damaging |
Het |
| Zfp729a |
A |
G |
13: 67,767,515 (GRCm39) |
C905R |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,602,362 (GRCm39) |
I435M |
probably benign |
Het |
| Zswim4 |
C |
A |
8: 84,955,687 (GRCm39) |
G271W |
probably damaging |
Het |
|
| Other mutations in Atg2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Atg2b
|
APN |
12 |
105,611,175 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01326:Atg2b
|
APN |
12 |
105,588,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Atg2b
|
APN |
12 |
105,614,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02260:Atg2b
|
APN |
12 |
105,602,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL02376:Atg2b
|
APN |
12 |
105,611,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atg2b
|
APN |
12 |
105,614,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02434:Atg2b
|
APN |
12 |
105,605,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02534:Atg2b
|
APN |
12 |
105,609,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Atg2b
|
APN |
12 |
105,592,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03173:Atg2b
|
APN |
12 |
105,624,553 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6669_atg2b_067
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
rail
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
Sora
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0511:Atg2b
|
UTSW |
12 |
105,583,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Atg2b
|
UTSW |
12 |
105,641,229 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0786:Atg2b
|
UTSW |
12 |
105,602,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1029:Atg2b
|
UTSW |
12 |
105,602,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1529:Atg2b
|
UTSW |
12 |
105,627,392 (GRCm39) |
missense |
probably benign |
|
|
R1563:Atg2b
|
UTSW |
12 |
105,589,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1746:Atg2b
|
UTSW |
12 |
105,635,588 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1887:Atg2b
|
UTSW |
12 |
105,620,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1956:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Atg2b
|
UTSW |
12 |
105,604,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2877:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R2878:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R4798:Atg2b
|
UTSW |
12 |
105,618,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4836:Atg2b
|
UTSW |
12 |
105,613,073 (GRCm39) |
missense |
probably benign |
|
|
R5007:Atg2b
|
UTSW |
12 |
105,610,135 (GRCm39) |
splice site |
probably null |
|
|
R5042:Atg2b
|
UTSW |
12 |
105,587,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5134:Atg2b
|
UTSW |
12 |
105,641,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5212:Atg2b
|
UTSW |
12 |
105,613,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Atg2b
|
UTSW |
12 |
105,602,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Atg2b
|
UTSW |
12 |
105,624,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5342:Atg2b
|
UTSW |
12 |
105,625,175 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5583:Atg2b
|
UTSW |
12 |
105,615,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5656:Atg2b
|
UTSW |
12 |
105,587,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Atg2b
|
UTSW |
12 |
105,615,383 (GRCm39) |
nonsense |
probably null |
|
|
R5903:Atg2b
|
UTSW |
12 |
105,605,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6018:Atg2b
|
UTSW |
12 |
105,627,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6153:Atg2b
|
UTSW |
12 |
105,589,741 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6326:Atg2b
|
UTSW |
12 |
105,627,351 (GRCm39) |
nonsense |
probably null |
|
|
R6584:Atg2b
|
UTSW |
12 |
105,624,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Atg2b
|
UTSW |
12 |
105,611,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Atg2b
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6847:Atg2b
|
UTSW |
12 |
105,602,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Atg2b
|
UTSW |
12 |
105,620,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7193:Atg2b
|
UTSW |
12 |
105,630,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Atg2b
|
UTSW |
12 |
105,589,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Atg2b
|
UTSW |
12 |
105,630,957 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7432:Atg2b
|
UTSW |
12 |
105,627,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7630:Atg2b
|
UTSW |
12 |
105,613,213 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7634:Atg2b
|
UTSW |
12 |
105,618,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Atg2b
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7653:Atg2b
|
UTSW |
12 |
105,602,731 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8157:Atg2b
|
UTSW |
12 |
105,629,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Atg2b
|
UTSW |
12 |
105,618,475 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8469:Atg2b
|
UTSW |
12 |
105,604,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Atg2b
|
UTSW |
12 |
105,635,687 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8784:Atg2b
|
UTSW |
12 |
105,605,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Atg2b
|
UTSW |
12 |
105,602,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Atg2b
|
UTSW |
12 |
105,583,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Atg2b
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Atg2b
|
UTSW |
12 |
105,618,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Atg2b
|
UTSW |
12 |
105,614,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9492:Atg2b
|
UTSW |
12 |
105,624,549 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Atg2b
|
UTSW |
12 |
105,611,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Atg2b
|
UTSW |
12 |
105,605,561 (GRCm39) |
missense |
probably benign |
|
|
R9746:Atg2b
|
UTSW |
12 |
105,630,197 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0018:Atg2b
|
UTSW |
12 |
105,632,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0066:Atg2b
|
UTSW |
12 |
105,613,044 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Atg2b
|
UTSW |
12 |
105,602,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGGACACTCTAGCTGGGG -3'
(R):5'- ACTTGCTGAGAGTATTGGCG -3'
Sequencing Primer
(F):5'- AGCATACTTTAGAGAGTAGTGCTG -3'
(R):5'- TGAGAGTATTGGCGGCCCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation