Incidental Mutation 'R5250:Atg2b'
| ID |
398975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
042821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R5250 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105602024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1651
(R1651W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: R1651W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: R1651W
| 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 |
unknown
Transcript: ENSMUST00000221015
AA Change: R491W
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
| Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
| Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
| Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
| Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
| Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
| Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
| Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
| Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
| Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
| Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
| Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
| Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
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 |
|
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 |
|
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'- GTCAGGGACACAGTTTGCAC -3'
(R):5'- TCACATTGATGGAGCGTGGC -3'
Sequencing Primer
(F):5'- GGGACACAGTTTGCACAGTTAACTC -3'
(R):5'- CGAGAGGCTCGCAGATTTAACTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation