Incidental Mutation 'R7387:Atg2b'
| ID |
573205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
045469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R7387 (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 105589034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1875
(D1875G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: D1875G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: D1875G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,774 (GRCm39) |
Y182H |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,093,246 (GRCm39) |
V1009A |
probably benign |
Het |
| Abcg2 |
A |
T |
6: 58,666,609 (GRCm39) |
I573F |
possibly damaging |
Het |
| Adck1 |
A |
G |
12: 88,427,822 (GRCm39) |
T480A |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,092,460 (GRCm39) |
I607T |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,062,997 (GRCm39) |
K52E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,134,270 (GRCm39) |
S1191T |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,305,198 (GRCm39) |
C1207F |
possibly damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,520,741 (GRCm39) |
L224P |
possibly damaging |
Het |
| BC035947 |
A |
G |
1: 78,475,098 (GRCm39) |
V478A |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,634,375 (GRCm39) |
V17A |
unknown |
Het |
| Cad |
T |
C |
5: 31,219,284 (GRCm39) |
Y669H |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,233 (GRCm39) |
M375L |
probably benign |
Het |
| Cdc6 |
C |
T |
11: 98,799,042 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,874,111 (GRCm39) |
Y72* |
probably null |
Het |
| Cenpe |
T |
G |
3: 134,952,798 (GRCm39) |
M1496R |
probably benign |
Het |
| Clec4a1 |
T |
G |
6: 122,899,016 (GRCm39) |
C28W |
possibly damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,505 (GRCm39) |
N120S |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,059,933 (GRCm39) |
I200L |
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,189,595 (GRCm39) |
Q18* |
probably null |
Het |
| Dpp10 |
T |
C |
1: 123,268,869 (GRCm39) |
E720G |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,772,619 (GRCm39) |
R243Q |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,157,932 (GRCm39) |
N769S |
possibly damaging |
Het |
| Ece1 |
T |
A |
4: 137,666,095 (GRCm39) |
I313N |
possibly damaging |
Het |
| Ern1 |
A |
T |
11: 106,312,778 (GRCm39) |
V201E |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,021,605 (GRCm39) |
L141P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fez1 |
T |
C |
9: 36,779,108 (GRCm39) |
F262L |
probably damaging |
Het |
| H2-DMa |
T |
C |
17: 34,357,101 (GRCm39) |
Y200H |
probably damaging |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,207 (GRCm39) |
V143D |
probably damaging |
Het |
| Ighv1-39 |
G |
A |
12: 114,878,488 (GRCm39) |
P28S |
probably benign |
Het |
| Inka1 |
C |
T |
9: 107,861,626 (GRCm39) |
R230H |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,370,738 (GRCm39) |
V1544I |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,560,094 (GRCm39) |
Q536L |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,135,319 (GRCm39) |
E24K |
possibly damaging |
Het |
| Itsn2 |
A |
T |
12: 4,689,781 (GRCm39) |
N618I |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,777 (GRCm39) |
S160R |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,398,204 (GRCm39) |
F677I |
probably damaging |
Het |
| Ldlrad2 |
C |
T |
4: 137,301,828 (GRCm39) |
C18Y |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,306,959 (GRCm39) |
V360A |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,025 (GRCm39) |
T426A |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,130,622 (GRCm39) |
F40L |
probably benign |
Het |
| Med27 |
T |
A |
2: 29,303,419 (GRCm39) |
L123Q |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,023,364 (GRCm39) |
V249A |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,565,426 (GRCm39) |
A592D |
probably benign |
Het |
| Mrps5 |
C |
T |
2: 127,442,804 (GRCm39) |
T291I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,553,016 (GRCm39) |
T4426S |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,099,715 (GRCm39) |
M542L |
probably benign |
Het |
| Nlrp12 |
G |
T |
7: 3,289,831 (GRCm39) |
A227D |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,782,314 (GRCm39) |
Y504H |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,086,442 (GRCm39) |
S8G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,133,793 (GRCm39) |
K524R |
probably damaging |
Het |
| Nup210 |
C |
T |
6: 90,998,378 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,744 (GRCm39) |
Y272* |
probably null |
Het |
| Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
| Or5h27 |
A |
T |
16: 59,006,699 (GRCm39) |
I49N |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,911,094 (GRCm39) |
I525M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,723,364 (GRCm39) |
L1277P |
probably benign |
Het |
| Pelp1 |
G |
A |
11: 70,287,425 (GRCm39) |
T461I |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,160 (GRCm39) |
C660R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,851,203 (GRCm39) |
Y1193F |
|
Het |
| Pknox2 |
G |
T |
9: 36,868,364 (GRCm39) |
|
probably benign |
Het |
| Pml |
T |
C |
9: 58,137,177 (GRCm39) |
T541A |
probably benign |
Het |
| Prss35 |
C |
T |
9: 86,637,974 (GRCm39) |
T248I |
probably damaging |
Het |
| Rccd1 |
T |
A |
7: 79,970,350 (GRCm39) |
N89I |
probably benign |
Het |
| Rcor3 |
T |
C |
1: 191,821,824 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,131,040 (GRCm39) |
E16G |
unknown |
Het |
| Scgb2b12 |
T |
A |
7: 32,026,060 (GRCm39) |
H44L |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,346,727 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
C |
5: 113,411,566 (GRCm39) |
F720C |
probably damaging |
Het |
| Slc25a51 |
A |
T |
4: 45,399,841 (GRCm39) |
F116L |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,941,293 (GRCm39) |
V253A |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,427,521 (GRCm39) |
F204I |
probably benign |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Stil |
T |
G |
4: 114,881,233 (GRCm39) |
H592Q |
probably benign |
Het |
| Strip1 |
T |
A |
3: 107,533,046 (GRCm39) |
S201C |
probably damaging |
Het |
| Tcp11l1 |
C |
A |
2: 104,530,275 (GRCm39) |
A70S |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,447,180 (GRCm39) |
|
probably null |
Het |
| Tmem184c |
A |
T |
8: 78,324,559 (GRCm39) |
Y310* |
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,090,386 (GRCm39) |
N274D |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,039,397 (GRCm39) |
I133F |
probably damaging |
Het |
| Vars1 |
C |
T |
17: 35,223,768 (GRCm39) |
Q228* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,343,198 (GRCm39) |
V526I |
possibly damaging |
Het |
| Zfp819 |
T |
G |
7: 43,262,065 (GRCm39) |
|
probably null |
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 |
|
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'- CTGACCGTGAAACTAGAGGC -3'
(R):5'- TGACTGACTCACACAAAGGTTAG -3'
Sequencing Primer
(F):5'- CTAGAGGCAAGCTTTTATGTGCAC -3'
(R):5'- TCTCTGTGAGATAGAAACACTCAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation