Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Atg2b'

702784

Institutional Source

Beutler Lab

Gene Symbol

Atg2b

Ensembl Gene

ENSMUSG00000041341

Gene Name

autophagy related 2B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105616136-105685211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105652100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 898 (S898P)

Ref Sequence

ENSEMBL: ENSMUSP00000037441 (fasta)

Gene Model

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

AlphaFold

Q80XK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041055
AA Change: S898P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: S898P

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016 (GRCm38)	Q1683P	probably damaging	Het
A2m	T	C	6: 121,660,906 (GRCm38)	S845P	probably benign	Het
Actn1	T	A	12: 80,172,971 (GRCm38)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196 (GRCm38)	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278 (GRCm38)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062 (GRCm38)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499 (GRCm38)	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329 (GRCm38)	A354V	probably benign	Het
Atxn1	T	A	13: 45,557,204 (GRCm38)	T751S	probably benign	Het
Begain	T	A	12: 109,033,193 (GRCm38)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,141,871 (GRCm38)	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786 (GRCm38)	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761 (GRCm38)	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725 (GRCm38)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426 (GRCm38)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm38)		probably benign	Het
Cop1	C	T	1: 159,288,983 (GRCm38)	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516 (GRCm38)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431 (GRCm38)	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075 (GRCm38)	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813 (GRCm38)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987 (GRCm38)	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323 (GRCm38)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941 (GRCm38)	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838 (GRCm38)	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748 (GRCm38)	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463 (GRCm38)	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008 (GRCm38)	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356 (GRCm38)	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654 (GRCm38)	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676 (GRCm38)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541 (GRCm38)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945 (GRCm38)		probably null	Het
Klf10	A	G	15: 38,297,758 (GRCm38)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005 (GRCm38)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896 (GRCm38)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625 (GRCm38)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264 (GRCm38)	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903 (GRCm38)	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242 (GRCm38)	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932 (GRCm38)	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952 (GRCm38)	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630 (GRCm38)	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640 (GRCm38)	N226I	unknown	Het
Olfr472	T	A	7: 107,903,320 (GRCm38)	I201N	possibly damaging	Het
Olfr715	T	C	7: 107,128,626 (GRCm38)	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461 (GRCm38)	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022 (GRCm38)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251 (GRCm38)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406 (GRCm38)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721 (GRCm38)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486 (GRCm38)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Plxna1	T	C	6: 89,329,559 (GRCm38)	R1430G	probably null	Het
Plxna4	T	C	6: 32,178,380 (GRCm38)	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731 (GRCm38)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988 (GRCm38)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507 (GRCm38)	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972 (GRCm38)	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026 (GRCm38)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246 (GRCm38)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398 (GRCm38)	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099 (GRCm38)	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863 (GRCm38)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286 (GRCm38)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 110,812,026 (GRCm38)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,872,309 (GRCm38)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182 (GRCm38)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155 (GRCm38)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241 (GRCm38)	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074 (GRCm38)	S13*	probably null	Het
Srek1	T	C	13: 103,753,146 (GRCm38)		probably null	Het
Sugp1	G	T	8: 70,056,570 (GRCm38)	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324 (GRCm38)	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088 (GRCm38)	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309 (GRCm38)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342 (GRCm38)	C325S	probably benign	Het
Themis	T	C	10: 28,863,394 (GRCm38)	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431 (GRCm38)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945 (GRCm38)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm38)	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432 (GRCm38)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838 (GRCm38)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232 (GRCm38)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203 (GRCm38)	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790 (GRCm38)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663 (GRCm38)	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367 (GRCm38)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302 (GRCm38)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320 (GRCm38)	E233G	probably damaging	Het

Other mutations in Atg2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Atg2b	APN	12	105,644,916 (GRCm38)	missense	probably benign	0.20
IGL01326:Atg2b	APN	12	105,622,144 (GRCm38)	missense	probably damaging	1.00
IGL02063:Atg2b	APN	12	105,648,322 (GRCm38)	missense	possibly damaging	0.89
IGL02260:Atg2b	APN	12	105,636,440 (GRCm38)	splice site	probably benign
IGL02376:Atg2b	APN	12	105,645,468 (GRCm38)	missense	probably damaging	1.00
IGL02381:Atg2b	APN	12	105,648,348 (GRCm38)	missense	probably damaging	1.00
IGL02434:Atg2b	APN	12	105,639,207 (GRCm38)	missense	probably benign	0.00
IGL02534:Atg2b	APN	12	105,643,267 (GRCm38)	missense	probably damaging	1.00
IGL03011:Atg2b	APN	12	105,626,362 (GRCm38)	missense	probably damaging	0.98
IGL03173:Atg2b	APN	12	105,658,294 (GRCm38)	missense	possibly damaging	0.68
R6669_atg2b_067	UTSW	12	105,671,529 (GRCm38)	missense	possibly damaging	0.90
rail	UTSW	12	105,658,840 (GRCm38)	nonsense	probably null
Sora	UTSW	12	105,623,430 (GRCm38)	missense	probably benign	0.06
R0066:Atg2b	UTSW	12	105,648,449 (GRCm38)	missense	probably benign
R0066:Atg2b	UTSW	12	105,648,449 (GRCm38)	missense	probably benign
R0511:Atg2b	UTSW	12	105,617,153 (GRCm38)	missense	probably damaging	1.00
R0762:Atg2b	UTSW	12	105,674,970 (GRCm38)	missense	possibly damaging	0.56
R0786:Atg2b	UTSW	12	105,636,508 (GRCm38)	missense	probably benign	0.00
R1029:Atg2b	UTSW	12	105,635,773 (GRCm38)	missense	probably damaging	0.96
R1529:Atg2b	UTSW	12	105,661,133 (GRCm38)	missense	probably benign
R1563:Atg2b	UTSW	12	105,623,488 (GRCm38)	missense	probably damaging	0.99
R1746:Atg2b	UTSW	12	105,669,329 (GRCm38)	missense	possibly damaging	0.79
R1887:Atg2b	UTSW	12	105,654,092 (GRCm38)	missense	probably benign	0.01
R1956:Atg2b	UTSW	12	105,669,418 (GRCm38)	missense	probably damaging	1.00
R1957:Atg2b	UTSW	12	105,669,418 (GRCm38)	missense	probably damaging	1.00
R2272:Atg2b	UTSW	12	105,638,008 (GRCm38)	missense	probably benign	0.00
R2877:Atg2b	UTSW	12	105,664,009 (GRCm38)	nonsense	probably null
R2878:Atg2b	UTSW	12	105,664,009 (GRCm38)	nonsense	probably null
R4798:Atg2b	UTSW	12	105,652,629 (GRCm38)	missense	probably benign	0.37
R4836:Atg2b	UTSW	12	105,646,814 (GRCm38)	missense	probably benign
R5007:Atg2b	UTSW	12	105,643,876 (GRCm38)	splice site	probably null
R5042:Atg2b	UTSW	12	105,621,262 (GRCm38)	missense	probably benign	0.01
R5134:Atg2b	UTSW	12	105,674,950 (GRCm38)	missense	probably damaging	0.96
R5212:Atg2b	UTSW	12	105,646,796 (GRCm38)	missense	probably benign	0.00
R5250:Atg2b	UTSW	12	105,635,765 (GRCm38)	missense	probably damaging	1.00
R5307:Atg2b	UTSW	12	105,658,329 (GRCm38)	missense	probably benign	0.17
R5342:Atg2b	UTSW	12	105,658,916 (GRCm38)	missense	possibly damaging	0.90
R5583:Atg2b	UTSW	12	105,649,155 (GRCm38)	missense	possibly damaging	0.94
R5656:Atg2b	UTSW	12	105,621,328 (GRCm38)	missense	probably benign	0.00
R5660:Atg2b	UTSW	12	105,649,124 (GRCm38)	nonsense	probably null
R5903:Atg2b	UTSW	12	105,639,359 (GRCm38)	missense	possibly damaging	0.90
R6018:Atg2b	UTSW	12	105,661,171 (GRCm38)	missense	probably damaging	0.96
R6153:Atg2b	UTSW	12	105,623,482 (GRCm38)	missense	possibly damaging	0.80
R6326:Atg2b	UTSW	12	105,661,092 (GRCm38)	nonsense	probably null
R6584:Atg2b	UTSW	12	105,657,995 (GRCm38)	missense	probably damaging	1.00
R6593:Atg2b	UTSW	12	105,644,848 (GRCm38)	missense	probably damaging	1.00
R6669:Atg2b	UTSW	12	105,671,529 (GRCm38)	missense	possibly damaging	0.90
R6847:Atg2b	UTSW	12	105,635,788 (GRCm38)	missense	probably damaging	1.00
R7003:Atg2b	UTSW	12	105,654,249 (GRCm38)	missense	probably benign	0.01
R7193:Atg2b	UTSW	12	105,664,708 (GRCm38)	missense	probably damaging	1.00
R7387:Atg2b	UTSW	12	105,622,775 (GRCm38)	missense	probably damaging	1.00
R7432:Atg2b	UTSW	12	105,664,698 (GRCm38)	missense	probably benign	0.08
R7432:Atg2b	UTSW	12	105,661,204 (GRCm38)	missense	probably damaging	0.98
R7630:Atg2b	UTSW	12	105,646,954 (GRCm38)	critical splice acceptor site	probably null
R7634:Atg2b	UTSW	12	105,652,120 (GRCm38)	missense	probably damaging	1.00
R7645:Atg2b	UTSW	12	105,623,430 (GRCm38)	missense	probably benign	0.06
R7653:Atg2b	UTSW	12	105,636,472 (GRCm38)	missense	possibly damaging	0.68
R8157:Atg2b	UTSW	12	105,662,940 (GRCm38)	missense	probably damaging	1.00
R8222:Atg2b	UTSW	12	105,652,216 (GRCm38)	missense	possibly damaging	0.95
R8469:Atg2b	UTSW	12	105,637,911 (GRCm38)	missense	probably benign	0.00
R8708:Atg2b	UTSW	12	105,669,428 (GRCm38)	critical splice acceptor site	probably benign
R8784:Atg2b	UTSW	12	105,639,241 (GRCm38)	missense	probably damaging	1.00
R8975:Atg2b	UTSW	12	105,636,466 (GRCm38)	missense	probably damaging	1.00
R8988:Atg2b	UTSW	12	105,617,129 (GRCm38)	missense	probably damaging	0.97
R9071:Atg2b	UTSW	12	105,658,840 (GRCm38)	nonsense	probably null
R9355:Atg2b	UTSW	12	105,670,721 (GRCm38)	missense	possibly damaging	0.48
R9402:Atg2b	UTSW	12	105,648,423 (GRCm38)	missense	probably damaging	0.98
R9492:Atg2b	UTSW	12	105,658,290 (GRCm38)	missense	probably benign	0.06
R9709:Atg2b	UTSW	12	105,644,881 (GRCm38)	missense	probably damaging	1.00
R9717:Atg2b	UTSW	12	105,639,302 (GRCm38)	missense	probably benign
R9746:Atg2b	UTSW	12	105,663,938 (GRCm38)	missense	possibly damaging	0.84
X0018:Atg2b	UTSW	12	105,666,697 (GRCm38)	missense	possibly damaging	0.86
X0066:Atg2b	UTSW	12	105,646,785 (GRCm38)	missense	probably benign	0.12
Z1177:Atg2b	UTSW	12	105,635,764 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCCAGAGGATCACAAGTTC -3'
(R):5'- CTGCAGAAAGTAAACATGTTGCC -3'

Sequencing Primer
(F):5'- GTTCAAAACCAACCTGGGAC -3'
(R):5'- TTGGAGAGAATAGCAGCC -3'

Posted On

2022-03-25