Mutagenetix > Incidental Mutation

Incidental Mutation 'R7630:Atg2b'

589605

Institutional Source

Beutler Lab

Gene Symbol

Atg2b

Ensembl Gene

ENSMUSG00000041341

Gene Name

autophagy related 2B

Synonyms

C030004M05Rik, 2410024A21Rik, C630028L02Rik

MMRRC Submission

045691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R7630 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105582395-105651470 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 105613213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037441 (fasta)

Gene Model

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

AlphaFold

Q80XK6

Predicted Effect

probably null
Transcript: ENSMUST00000041055

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341

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

probably benign
Transcript: ENSMUST00000221015

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (40/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Agbl1	A	T	7: 76,535,904 (GRCm39)	I1019F	unknown	Het
Arhgap15	A	G	2: 43,670,648 (GRCm39)	T11A	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Aup1	C	A	6: 83,031,904 (GRCm39)	D50E	unknown	Het
Ccl25	A	G	8: 4,403,955 (GRCm39)	Y49C	probably damaging	Het
Cnga3	A	G	1: 37,297,127 (GRCm39)	D148G	probably damaging	Het
Cpeb3	A	T	19: 37,031,693 (GRCm39)	F570I	probably damaging	Het
Cyp3a16	T	A	5: 145,373,120 (GRCm39)		probably null	Het
Eif2d	C	T	1: 131,082,103 (GRCm39)	T65M	probably benign	Het
Fryl	T	C	5: 73,267,588 (GRCm39)	I426V	possibly damaging	Het
Hgf	T	C	5: 16,803,248 (GRCm39)	S387P	probably benign	Het
Hyal6	T	C	6: 24,734,583 (GRCm39)	V172A	probably damaging	Het
Il10ra	T	C	9: 45,167,369 (GRCm39)	D396G	probably damaging	Het
Kif26a	A	G	12: 112,142,131 (GRCm39)	D795G	probably damaging	Het
Lrrc8c	T	A	5: 105,755,568 (GRCm39)	S448T	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Notch2	A	G	3: 98,044,824 (GRCm39)	D1582G	possibly damaging	Het
Or14c42-ps1	T	C	7: 86,211,680 (GRCm39)	S247P	probably damaging	Het
Or1l4b	A	C	2: 37,036,371 (GRCm39)	D49A	probably damaging	Het
Osmr	T	C	15: 6,846,452 (GRCm39)	I741V	possibly damaging	Het
Plec	C	T	15: 76,074,816 (GRCm39)		probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prkn	A	G	17: 11,456,455 (GRCm39)	E93G	probably benign	Het
Rexo4	A	T	2: 26,850,622 (GRCm39)	F247I	probably damaging	Het
Rph3a	T	C	5: 121,081,113 (GRCm39)	D628G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rxylt1	T	C	10: 121,931,865 (GRCm39)	I103V	possibly damaging	Het
Scnn1g	T	C	7: 121,359,704 (GRCm39)	S396P	probably damaging	Het
Slc1a5	G	A	7: 16,529,732 (GRCm39)	V384M	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Synpo2	A	G	3: 122,873,681 (GRCm39)	V1154A	probably damaging	Het
Tanc2	T	C	11: 105,667,734 (GRCm39)	V105A	probably benign	Het
Tapbp	T	C	17: 34,139,318 (GRCm39)	S105P	probably benign	Het
Tmem79	T	C	3: 88,240,768 (GRCm39)	E60G	possibly damaging	Het
Txnrd2	A	G	16: 18,257,140 (GRCm39)	D152G	possibly damaging	Het
Vcl	T	A	14: 21,033,470 (GRCm39)	L142*	probably null	Het
Vmn2r58	T	C	7: 41,513,611 (GRCm39)	Y344C	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,044,909 (GRCm39)	D442G	probably benign	Het
Xpo6	A	T	7: 125,739,561 (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
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
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'- ATCTTCACTGCGACTGAGAGC -3'
(R):5'- GAATCTGTTGTCTGAAGAGTACAC -3'

Sequencing Primer
(F):5'- TCACTGCGACTGAGAGCATATTC -3'
(R):5'- CTGTTGTCTGAAGAGTACACAAGAC -3'

Posted On

2019-10-24