Incidental Mutation 'R7003:Atg2b'
ID |
544684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2b
|
Ensembl Gene |
ENSMUSG00000041341 |
Gene Name |
autophagy related 2B |
Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
MMRRC Submission |
045108-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R7003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105620508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 732
(S732P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
AlphaFold |
Q80XK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: S732P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000037441 Gene: ENSMUSG00000041341 AA Change: S732P
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
Adam6b |
C |
T |
12: 113,453,662 (GRCm39) |
Q160* |
probably null |
Het |
Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
Armc3 |
T |
C |
2: 19,274,839 (GRCm39) |
I358T |
probably damaging |
Het |
Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
Dsel |
C |
T |
1: 111,788,025 (GRCm39) |
V837I |
probably benign |
Het |
Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,390,014 (GRCm39) |
T592A |
possibly damaging |
Het |
Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
Rnf123 |
T |
A |
9: 107,940,882 (GRCm39) |
|
probably null |
Het |
Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
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 |
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'- CTCGAAAAGTCAGCTCCAGTTTAG -3'
(R):5'- AGGTCTGAATGGGCAGTAGC -3'
Sequencing Primer
(F):5'- ACGAACTCTGTCTTGGACTCCAG -3'
(R):5'- GCAGTAGCTGTTACATTTGCAC -3'
|
Posted On |
2019-05-13 |