Incidental Mutation 'R5307:Atg2b'
| ID |
404664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
042890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105624588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 637
(D637V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: D637V
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: D637V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221568
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,559,383 (GRCm39) |
T264A |
probably benign |
Het |
| Arhgef17 |
C |
G |
7: 100,578,635 (GRCm39) |
G771A |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,103,302 (GRCm39) |
E562G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,497,280 (GRCm39) |
V342A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,810 (GRCm39) |
I527T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,760,597 (GRCm39) |
N1022K |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,562,683 (GRCm39) |
D383E |
probably benign |
Het |
| Casq1 |
A |
T |
1: 172,046,983 (GRCm39) |
L92Q |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,952,832 (GRCm39) |
Y371N |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,723,777 (GRCm39) |
A617T |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,205,576 (GRCm39) |
R419S |
possibly damaging |
Het |
| Corin |
C |
A |
5: 72,514,321 (GRCm39) |
G318C |
probably damaging |
Het |
| Cpa3 |
A |
G |
3: 20,281,327 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,879,710 (GRCm39) |
S493G |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,826,321 (GRCm39) |
F80S |
probably damaging |
Het |
| Dhrs2 |
A |
G |
14: 55,473,601 (GRCm39) |
S87G |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,414,641 (GRCm39) |
E14G |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,588,942 (GRCm39) |
E200G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,155,099 (GRCm39) |
E895G |
probably damaging |
Het |
| Ehhadh |
A |
C |
16: 21,581,442 (GRCm39) |
S517A |
probably benign |
Het |
| Ephb2 |
C |
A |
4: 136,421,098 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,361,574 (GRCm39) |
T526A |
probably damaging |
Het |
| Fam222b |
G |
A |
11: 78,044,594 (GRCm39) |
V52I |
probably damaging |
Het |
| Galm |
G |
A |
17: 80,452,416 (GRCm39) |
W118* |
probably null |
Het |
| Galm |
G |
T |
17: 80,452,417 (GRCm39) |
W118C |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,921,367 (GRCm39) |
N458D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gykl1 |
A |
C |
18: 52,827,723 (GRCm39) |
R310S |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,405,403 (GRCm39) |
V27G |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,108 (GRCm39) |
M90L |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,164,877 (GRCm39) |
E87G |
unknown |
Het |
| Hps3 |
G |
A |
3: 20,066,865 (GRCm39) |
S567L |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,892,676 (GRCm39) |
V2148E |
probably damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,572 (GRCm39) |
R117G |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,036,464 (GRCm39) |
A1134V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,098 (GRCm39) |
A1294T |
possibly damaging |
Het |
| Leng8 |
C |
T |
7: 4,148,472 (GRCm39) |
T748I |
probably damaging |
Het |
| Lrig3 |
G |
C |
10: 125,842,559 (GRCm39) |
D495H |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,860,198 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
A |
15: 76,586,371 (GRCm39) |
L168* |
probably null |
Het |
| Nherf1 |
T |
A |
11: 115,054,587 (GRCm39) |
I79N |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,096,709 (GRCm39) |
G921* |
probably null |
Het |
| Nsun4 |
G |
A |
4: 115,891,335 (GRCm39) |
T348I |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,147,842 (GRCm39) |
T246A |
probably damaging |
Het |
| Nynrin |
A |
C |
14: 56,101,263 (GRCm39) |
S311R |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,741 (GRCm39) |
|
probably null |
Het |
| Or5ar1 |
T |
G |
2: 85,671,358 (GRCm39) |
Y259S |
probably damaging |
Het |
| Ovch2 |
C |
A |
7: 107,391,341 (GRCm39) |
R303L |
probably benign |
Het |
| Pcsk9 |
A |
G |
4: 106,304,371 (GRCm39) |
S490P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,140,894 (GRCm39) |
F859L |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,424 (GRCm39) |
D1207G |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,911,964 (GRCm39) |
R710Q |
possibly damaging |
Het |
| Prex2 |
T |
G |
1: 11,270,256 (GRCm39) |
S1314A |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,078,757 (GRCm39) |
L64P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc6a20b |
T |
G |
9: 123,432,899 (GRCm39) |
S374R |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,653 (GRCm39) |
N128K |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,211 (GRCm39) |
D32V |
probably damaging |
Het |
| Snrnp35 |
T |
C |
5: 124,628,553 (GRCm39) |
I122T |
possibly damaging |
Het |
| Snx24 |
C |
T |
18: 53,473,283 (GRCm39) |
Q76* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,431,784 (GRCm39) |
H692Q |
probably damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,701,114 (GRCm39) |
D585G |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,072,677 (GRCm39) |
N2211D |
possibly damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,881 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
G |
3: 28,596,121 (GRCm39) |
D171E |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,533,745 (GRCm39) |
H266L |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,725,114 (GRCm39) |
S2037* |
probably null |
Het |
| Tuba3a |
G |
A |
6: 125,258,273 (GRCm39) |
T239I |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,890,594 (GRCm39) |
D767E |
probably benign |
Het |
| Whrn |
G |
T |
4: 63,350,080 (GRCm39) |
H546N |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,341,506 (GRCm39) |
T1249I |
probably damaging |
Het |
| Zbtb1 |
T |
A |
12: 76,433,014 (GRCm39) |
D333E |
probably damaging |
Het |
| Zfp689 |
T |
G |
7: 127,047,987 (GRCm39) |
E15A |
possibly damaging |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
|
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 |
|
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'- GAACTAAGTCTTGCTTGATTACCC -3'
(R):5'- ATGAGGCGCTGAGTTTCACAG -3'
Sequencing Primer
(F):5'- TGGTAAAACTAGGTTAAAAACTG -3'
(R):5'- GAGTTTCACAGCACTTGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation