Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Atg2b'

523482

Institutional Source

Beutler Lab

Gene Symbol

Atg2b

Ensembl Gene

ENSMUSG00000041341

Gene Name

autophagy related 2B

Synonyms

C030004M05Rik, 2410024A21Rik, C630028L02Rik

MMRRC Submission

044717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R6593 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105582395-105651470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105611107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1275 (S1275P)

Ref Sequence

ENSEMBL: ENSMUSP00000037441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041055]

AlphaFold

Q80XK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041055
AA Change: S1275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: S1275P

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: ENSMUST00000157229

Predicted Effect

unknown
Transcript: ENSMUST00000221015
AA Change: S114P

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,903,491 (GRCm39)	N1047K	probably benign	Het
AI597479	C	A	1: 43,150,408 (GRCm39)	Q173K	probably damaging	Het
Arhgef10	T	C	8: 15,012,522 (GRCm39)	L282P	probably damaging	Het
Arhgef10	T	C	8: 15,012,564 (GRCm39)	I296T	possibly damaging	Het
Cep290	T	C	10: 100,344,638 (GRCm39)	M485T	probably benign	Het
Clca3a2	A	G	3: 144,514,338 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,095,226 (GRCm39)	S731N	probably benign	Het
Clic6	A	G	16: 92,325,005 (GRCm39)	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,600,192 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,200,720 (GRCm39)	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,292,666 (GRCm39)	Y169C	probably damaging	Het
Elavl3	C	T	9: 21,929,843 (GRCm39)	V354M	possibly damaging	Het
Farp2	A	C	1: 93,497,662 (GRCm39)	I231L	possibly damaging	Het
Gcc2	T	A	10: 58,107,329 (GRCm39)	M755K	probably damaging	Het
Gpr88	T	C	3: 116,046,273 (GRCm39)	T13A	unknown	Het
Gstm3	T	A	3: 107,875,511 (GRCm39)	N40Y	probably benign	Het
Krtap5-2	A	T	7: 141,728,697 (GRCm39)	C328S	unknown	Het
Lpar1	A	T	4: 58,486,605 (GRCm39)	V222E	probably damaging	Het
Neto2	A	G	8: 86,396,175 (GRCm39)	S192P	probably damaging	Het
Odad1	T	A	7: 45,596,808 (GRCm39)	D378E	probably damaging	Het
Or52n3	C	T	7: 104,530,640 (GRCm39)	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,815,134 (GRCm39)	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,645,790 (GRCm39)	Q264*	probably null	Het
Ptgs2	G	A	1: 149,976,784 (GRCm39)	D6N	possibly damaging	Het
Rasef	G	T	4: 73,663,327 (GRCm39)	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,216,168 (GRCm39)	L193S	probably damaging	Het
Rigi	T	C	4: 40,226,651 (GRCm39)	I169V	probably benign	Het
Sec24d	T	C	3: 123,147,061 (GRCm39)	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,063,219 (GRCm39)	M1T	probably null	Het
Stra6	A	G	9: 58,059,262 (GRCm39)	T542A	probably benign	Het
Stt3b	T	C	9: 115,081,579 (GRCm39)	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,455,417 (GRCm39)	K626R	possibly damaging	Het
Washc2	T	A	6: 116,236,210 (GRCm39)	I1227N	probably damaging	Het
Xpo7	G	A	14: 70,919,802 (GRCm39)	A671V	probably damaging	Het
Zfp799	A	G	17: 33,038,764 (GRCm39)	Y501H	probably damaging	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
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'- AATTGCCACCTGAGAGTCTC -3'
(R):5'- CTCTAACAATCCCACAGTTGAGTAG -3'

Sequencing Primer
(F):5'- CCCCTAAAGTGGAAACATGACAGTG -3'
(R):5'- CAATCCCACAGTTGAGTAGTTGTG -3'

Posted On

2018-06-22