Incidental Mutation 'R9492:Atg2b'
| ID |
717025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R9492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105624549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 650
(H650R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: H650R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: H650R
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
C |
1: 120,078,472 (GRCm39) |
K43T |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,297,380 (GRCm39) |
V2370A |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,243,667 (GRCm39) |
C1843* |
probably null |
Het |
| Abr |
C |
T |
11: 76,399,751 (GRCm39) |
S82N |
probably benign |
Het |
| Acot2 |
T |
C |
12: 84,039,384 (GRCm39) |
S298P |
probably benign |
Het |
| Acrbp |
A |
G |
6: 125,038,062 (GRCm39) |
D421G |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,206,736 (GRCm39) |
M1L |
probably benign |
Het |
| Ano8 |
A |
G |
8: 71,934,784 (GRCm39) |
V441A |
possibly damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,955,540 (GRCm39) |
S717P |
probably benign |
Het |
| Atp11a |
C |
T |
8: 12,894,490 (GRCm39) |
T695I |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,214,023 (GRCm39) |
S74P |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,427,238 (GRCm39) |
Y597H |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,215,665 (GRCm39) |
E619K |
probably damaging |
Het |
| Ceacam11 |
G |
T |
7: 17,709,468 (GRCm39) |
C222F |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,177,822 (GRCm39) |
*3677W |
probably null |
Het |
| Col11a1 |
G |
C |
3: 114,005,752 (GRCm39) |
C1628S |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,654,808 (GRCm39) |
I1032T |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,281,159 (GRCm39) |
D630G |
probably damaging |
Het |
| Eci3 |
C |
T |
13: 35,143,976 (GRCm39) |
G50R |
probably benign |
Het |
| Eif2a |
A |
G |
3: 58,448,475 (GRCm39) |
T103A |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,920,057 (GRCm39) |
E432G |
probably damaging |
Het |
| Gdnf |
C |
T |
15: 7,840,423 (GRCm39) |
|
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,547,230 (GRCm39) |
M471K |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,570 (GRCm39) |
I320V |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,093,419 (GRCm39) |
L7S |
probably benign |
Het |
| Lrrc61 |
G |
T |
6: 48,545,761 (GRCm39) |
E195* |
probably null |
Het |
| Maz |
G |
T |
7: 126,622,292 (GRCm39) |
A443E |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,568,801 (GRCm39) |
L1107Q |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,215,511 (GRCm39) |
H494R |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,488,480 (GRCm39) |
Y618* |
probably null |
Het |
| Nup98 |
C |
T |
7: 101,778,252 (GRCm39) |
E1372K |
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,201,960 (GRCm39) |
N28S |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,610 (GRCm39) |
V210A |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,818,349 (GRCm39) |
I184T |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,697,346 (GRCm39) |
N891S |
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,106,096 (GRCm39) |
L237Q |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
A |
G |
4: 124,552,179 (GRCm39) |
H227R |
possibly damaging |
Het |
| Prss53 |
G |
A |
7: 127,488,802 (GRCm39) |
R31C |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,417,435 (GRCm39) |
D21E |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,478,813 (GRCm39) |
Y1277H |
probably damaging |
Het |
| Rexo2 |
T |
C |
9: 48,380,176 (GRCm39) |
T219A |
probably benign |
Het |
| Rfc3 |
A |
G |
5: 151,566,411 (GRCm39) |
F346S |
probably damaging |
Het |
| Rhoq |
A |
T |
17: 87,304,373 (GRCm39) |
Q168L |
|
Het |
| Sgk1 |
A |
G |
10: 21,874,096 (GRCm39) |
N452S |
probably damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,048,026 (GRCm39) |
K122R |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,761 (GRCm39) |
M1021K |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,186,484 (GRCm39) |
V886A |
probably benign |
Het |
| Spata20 |
T |
A |
11: 94,374,444 (GRCm39) |
M308L |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,199,098 (GRCm39) |
H3176Q |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,692,361 (GRCm39) |
H141L |
probably benign |
Het |
| Syne2 |
T |
A |
12: 75,995,839 (GRCm39) |
H2126Q |
possibly damaging |
Het |
| Traj46 |
A |
G |
14: 54,409,851 (GRCm39) |
T20A |
|
Het |
| Trim30a |
G |
T |
7: 104,078,330 (GRCm39) |
Q249K |
probably damaging |
Het |
| Trmt13 |
A |
G |
3: 116,388,281 (GRCm39) |
Y52H |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,187,267 (GRCm39) |
I700V |
probably damaging |
Het |
| Tyr |
G |
A |
7: 87,121,704 (GRCm39) |
H363Y |
probably damaging |
Het |
| Tyr |
C |
G |
7: 87,121,705 (GRCm39) |
M362I |
possibly damaging |
Het |
| Ubb |
G |
A |
11: 62,442,984 (GRCm39) |
V5M |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,150,288 (GRCm39) |
L519P |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,315,191 (GRCm39) |
D185G |
possibly damaging |
Het |
| Vmn1r228 |
C |
T |
17: 20,996,862 (GRCm39) |
E219K |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,240,669 (GRCm39) |
V400A |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,794 (GRCm39) |
M755T |
probably benign |
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 |
|
R9355:Atg2b
|
UTSW |
12 |
105,636,980 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9402:Atg2b
|
UTSW |
12 |
105,614,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TGATATCCAGCTCGCAACAC -3'
(R):5'- AGCAAGCCTGTCTCACCTAC -3'
Sequencing Primer
(F):5'- TGTAATTCTGCCTTTTGAGGAAC -3'
(R):5'- GCCTGTCTCACCTACACAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation