Mutagenetix > Incidental Mutation

Incidental Mutation 'R5660:Atg2b'

444051

Institutional Source

Beutler Lab

Gene Symbol

Atg2b

Ensembl Gene

ENSMUSG00000041341

Gene Name

autophagy related 2B

Synonyms

C030004M05Rik, 2410024A21Rik, C630028L02Rik

MMRRC Submission

043173-MU

Accession Numbers

Essential gene?

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

Stock #

R5660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105582395-105651470 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105615383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1024 (Y1024*)

Ref Sequence

ENSEMBL: ENSMUSP00000037441 (fasta)

Gene Model

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

AlphaFold

Q80XK6

Predicted Effect

probably null
Transcript: ENSMUST00000041055
AA Change: Y1024*

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: Y1024*

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

probably benign
Transcript: ENSMUST00000221015

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,828 (GRCm39)	N1307S	probably benign	Het
Abcf1	A	T	17: 36,274,539 (GRCm39)	D41E	possibly damaging	Het
Adamts13	T	C	2: 26,886,761 (GRCm39)	V966A	probably benign	Het
Adamts2	A	T	11: 50,667,472 (GRCm39)	D470V	probably damaging	Het
Adar	T	C	3: 89,642,901 (GRCm39)	F261L	probably damaging	Het
Akap3	C	T	6: 126,842,254 (GRCm39)	A291V	probably damaging	Het
Akr1c6	G	A	13: 4,499,053 (GRCm39)	V214I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Arhgap11a	T	A	2: 113,672,255 (GRCm39)	I238F	possibly damaging	Het
Cad	T	A	5: 31,234,191 (GRCm39)	D1956E	probably damaging	Het
Cbs	A	T	17: 31,843,220 (GRCm39)	I237N	probably damaging	Het
Ccdc81	T	C	7: 89,542,337 (GRCm39)	T180A	probably benign	Het
Cftr	T	A	6: 18,313,686 (GRCm39)	N1303K	probably benign	Het
Col6a4	A	G	9: 105,873,315 (GRCm39)	S2227P	probably benign	Het
Crebbp	A	T	16: 3,972,722 (GRCm39)	M324K	possibly damaging	Het
Dst	A	G	1: 34,321,574 (GRCm39)	K4363R	probably damaging	Het
Eif2b4	A	T	5: 31,348,500 (GRCm39)	Y238N	probably benign	Het
Fam83c	G	A	2: 155,671,509 (GRCm39)	A642V	probably benign	Het
Fat2	T	A	11: 55,175,002 (GRCm39)	T1904S	probably benign	Het
Flt3	T	C	5: 147,306,291 (GRCm39)	N279S	possibly damaging	Het
Galnt4	A	G	10: 98,945,397 (GRCm39)	N374S	probably benign	Het
Gm14401	T	A	2: 176,778,224 (GRCm39)	H103Q	probably damaging	Het
Gm5422	A	T	10: 31,126,048 (GRCm39)		noncoding transcript	Het
Helb	G	A	10: 119,946,984 (GRCm39)	Q110*	probably null	Het
Ido1	T	C	8: 25,081,558 (GRCm39)	D41G	probably damaging	Het
Igfn1	A	G	1: 135,898,152 (GRCm39)	S805P	probably benign	Het
Matr3	C	A	18: 35,705,147 (GRCm39)	A24E	probably damaging	Het
Mmp23	C	T	4: 155,735,710 (GRCm39)	C287Y	probably damaging	Het
Mrnip	A	G	11: 50,087,918 (GRCm39)	R147G	probably null	Het
Msh6	A	G	17: 88,292,147 (GRCm39)	K301E	possibly damaging	Het
Or12d13	A	G	17: 37,647,535 (GRCm39)	L196P	probably damaging	Het
Or8g4	G	A	9: 39,662,063 (GRCm39)	C127Y	probably damaging	Het
Ptar1	T	A	19: 23,671,776 (GRCm39)	C60S	probably benign	Het
Rora	A	G	9: 68,561,203 (GRCm39)	S11G	probably benign	Het
Rps6ka5	G	T	12: 100,585,839 (GRCm39)	H151Q	possibly damaging	Het
Sgsh	A	G	11: 119,241,807 (GRCm39)	S100P	probably damaging	Het
Simc1	A	G	13: 54,694,902 (GRCm39)	T1229A	probably benign	Het
Slc26a11	T	C	11: 119,248,804 (GRCm39)	Y62H	probably damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Smg1	C	T	7: 117,742,570 (GRCm39)	V3215I	probably benign	Het
Smyd2	G	A	1: 189,617,579 (GRCm39)	P285L	possibly damaging	Het
Themis2	T	C	4: 132,523,567 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,547,732 (GRCm39)	V743A	probably damaging	Het
Tpo	T	A	12: 30,150,495 (GRCm39)	N462Y	possibly damaging	Het
Wnt2	T	A	6: 18,028,145 (GRCm39)	M30L	probably benign	Het
Zfyve9	T	C	4: 108,576,365 (GRCm39)	I239V	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
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
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'- TCTGGCATCCTGGAACACTG -3'
(R):5'- AACGTGGAATCTTTGGAGTGATC -3'

Sequencing Primer
(F):5'- ATCCTGGAACACTGCTCCC -3'
(R):5'- AATCTTTGGAGTGATCGTGTACATG -3'

Posted On

2016-11-09