Mutagenetix > Incidental Mutation

Incidental Mutation 'R8474:Atg2a'

657196

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

MMRRC Submission

067918-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R8474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 6301433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045351]

AlphaFold

Q6P4T0

Predicted Effect

probably null
Transcript: ENSMUST00000045351

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	14	131	7.6e-20	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	501	512	N/A	INTRINSIC
low complexity region	852	863	N/A	INTRINSIC
low complexity region	1069	1081	N/A	INTRINSIC
low complexity region	1429	1446	N/A	INTRINSIC
low complexity region	1761	1773	N/A	INTRINSIC
Pfam:ATG_C	1814	1908	2.2e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145600

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773

Domain	Start	End	E-Value	Type
low complexity region	87	103	N/A	INTRINSIC
low complexity region	303	314	N/A	INTRINSIC
low complexity region	654	665	N/A	INTRINSIC
low complexity region	871	883	N/A	INTRINSIC
low complexity region	1233	1250	N/A	INTRINSIC
low complexity region	1565	1577	N/A	INTRINSIC
Pfam:ATG_C	1618	1712	3.6e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,576,638 (GRCm39)	S975T	probably damaging	Het
Adgrg1	C	G	8: 95,729,936 (GRCm39)	T46S	probably damaging	Het
Akip1	T	A	7: 109,306,697 (GRCm39)	D131E	probably benign	Het
Arhgef39	A	G	4: 43,498,015 (GRCm39)	V163A	probably benign	Het
Bcam	A	T	7: 19,494,325 (GRCm39)	L357*	probably null	Het
Bcat2	A	G	7: 45,237,075 (GRCm39)	N194S	probably damaging	Het
Bcl2l14	T	C	6: 134,400,720 (GRCm39)	L47P	probably benign	Het
Cbln1	C	T	8: 88,198,673 (GRCm39)	A66T	possibly damaging	Het
Ccdc191	G	T	16: 43,710,262 (GRCm39)		probably benign	Het
Cd70	C	T	17: 57,456,468 (GRCm39)	S45N	possibly damaging	Het
Cfap43	G	A	19: 47,886,363 (GRCm39)	A84V	probably benign	Het
Clca3a1	T	A	3: 144,710,792 (GRCm39)	N804Y	possibly damaging	Het
Cmah	A	T	13: 24,601,350 (GRCm39)	N52I	probably damaging	Het
Crot	A	G	5: 9,043,518 (GRCm39)	Y35H	probably damaging	Het
Cyp3a59	C	A	5: 146,041,487 (GRCm39)	P344T	probably benign	Het
Dnah5	A	G	15: 28,247,978 (GRCm39)	E705G	probably benign	Het
Dnm2	A	G	9: 21,377,016 (GRCm39)	Y125C	probably damaging	Het
Dst	A	G	1: 34,208,266 (GRCm39)	Y739C	probably damaging	Het
Eif3a	A	T	19: 60,767,929 (GRCm39)	M203K	possibly damaging	Het
Enpep	C	T	3: 129,113,076 (GRCm39)	V283M	probably damaging	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Evi5l	T	C	8: 4,260,784 (GRCm39)	H1011R	possibly damaging	Het
Fig4	A	T	10: 41,108,170 (GRCm39)	F677I	probably benign	Het
Gramd1b	A	G	9: 40,287,207 (GRCm39)		probably null	Het
Gse1	C	T	8: 121,295,123 (GRCm39)		probably benign	Het
Hoxa9	A	G	6: 52,202,506 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,752,566 (GRCm39)	S1173R	probably benign	Het
Ifi207	G	A	1: 173,556,605 (GRCm39)	T718I	possibly damaging	Het
Ifit1bl1	A	G	19: 34,572,262 (GRCm39)	L65P	probably damaging	Het
Impact	T	C	18: 13,107,798 (GRCm39)	I22T	probably damaging	Het
Lrp1	A	G	10: 127,375,572 (GRCm39)	C4409R	probably damaging	Het
Mark1	A	G	1: 184,651,783 (GRCm39)	W131R	probably damaging	Het
Mindy3	T	C	2: 12,404,839 (GRCm39)	T190A	probably damaging	Het
Mybbp1a	A	G	11: 72,338,563 (GRCm39)	D721G	probably benign	Het
Myo1d	A	G	11: 80,561,745 (GRCm39)	V466A	possibly damaging	Het
Myo5b	A	C	18: 74,903,411 (GRCm39)	D1809A	probably damaging	Het
Nudcd2	C	T	11: 40,624,850 (GRCm39)	Q20*	probably null	Het
Or4f62	T	C	2: 111,986,320 (GRCm39)	M8T	probably benign	Het
Or5b101	A	G	19: 13,005,357 (GRCm39)	L112P	probably damaging	Het
Or8g2b	T	A	9: 39,751,048 (GRCm39)	L106H	possibly damaging	Het
Pcif1	A	T	2: 164,730,272 (GRCm39)	D335V	probably damaging	Het
Pebp4	T	A	14: 70,085,136 (GRCm39)	C65S	possibly damaging	Het
Ptger1	C	T	8: 84,395,267 (GRCm39)	A248V	probably benign	Het
Qki	A	T	17: 10,537,747 (GRCm39)	M19K	probably benign	Het
Ralgapa2	C	G	2: 146,266,750 (GRCm39)	A609P	probably damaging	Het
Robo2	C	T	16: 73,745,150 (GRCm39)	G875D	probably damaging	Het
Runx2	A	G	17: 44,919,147 (GRCm39)	V375A	probably damaging	Het
Sis	A	T	3: 72,836,730 (GRCm39)	F841I	probably damaging	Het
Slc5a8	A	G	10: 88,757,552 (GRCm39)	D514G	possibly damaging	Het
Spag17	A	T	3: 99,934,586 (GRCm39)	T623S	probably benign	Het
Sppl2c	A	G	11: 104,078,963 (GRCm39)	S588G	probably benign	Het
Stxbp6	A	C	12: 44,949,704 (GRCm39)	V75G	possibly damaging	Het
Tmc3	G	A	7: 83,259,122 (GRCm39)	R531Q	probably damaging	Het
Tmem258	T	C	19: 10,184,550 (GRCm39)	Y41H	probably damaging	Het
Tsks	A	T	7: 44,600,263 (GRCm39)	T91S	probably damaging	Het
Vmn2r23	T	C	6: 123,681,599 (GRCm39)	V169A	probably benign	Het
Wdr54	T	C	6: 83,129,985 (GRCm39)	N282S	probably benign	Het
Yme1l1	T	A	2: 23,052,584 (GRCm39)	N79K	probably benign	Het

Other mutations in Atg2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Atg2a	APN	19	6,304,629 (GRCm39)	missense	probably damaging	1.00
IGL01612:Atg2a	APN	19	6,302,514 (GRCm39)	missense	probably benign	0.03
IGL02105:Atg2a	APN	19	6,300,433 (GRCm39)	splice site	probably benign
IGL02151:Atg2a	APN	19	6,305,787 (GRCm39)	missense	possibly damaging	0.95
IGL02228:Atg2a	APN	19	6,296,830 (GRCm39)	missense	probably benign	0.29
IGL02329:Atg2a	APN	19	6,299,959 (GRCm39)	critical splice donor site	probably null
IGL02408:Atg2a	APN	19	6,291,858 (GRCm39)	nonsense	probably null
IGL02538:Atg2a	APN	19	6,307,658 (GRCm39)	missense	probably benign
IGL02830:Atg2a	APN	19	6,297,711 (GRCm39)	missense	probably benign	0.04
IGL03349:Atg2a	APN	19	6,308,054 (GRCm39)	missense	possibly damaging	0.77
PIT4515001:Atg2a	UTSW	19	6,303,615 (GRCm39)	missense	probably damaging	1.00
R0099:Atg2a	UTSW	19	6,302,819 (GRCm39)	missense	probably damaging	0.97
R0212:Atg2a	UTSW	19	6,296,584 (GRCm39)	missense	probably damaging	1.00
R0365:Atg2a	UTSW	19	6,297,713 (GRCm39)	missense	possibly damaging	0.51
R0398:Atg2a	UTSW	19	6,296,608 (GRCm39)	missense	probably damaging	1.00
R0483:Atg2a	UTSW	19	6,306,632 (GRCm39)	missense	probably benign	0.01
R0483:Atg2a	UTSW	19	6,306,631 (GRCm39)	missense	probably damaging	0.98
R0494:Atg2a	UTSW	19	6,303,407 (GRCm39)	missense	probably damaging	1.00
R0511:Atg2a	UTSW	19	6,302,569 (GRCm39)	missense	possibly damaging	0.89
R0590:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0592:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0593:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0630:Atg2a	UTSW	19	6,294,547 (GRCm39)	missense	probably damaging	0.99
R1306:Atg2a	UTSW	19	6,303,051 (GRCm39)	missense	probably benign	0.31
R1437:Atg2a	UTSW	19	6,300,646 (GRCm39)	missense	probably damaging	1.00
R1539:Atg2a	UTSW	19	6,296,801 (GRCm39)	splice site	probably null
R1774:Atg2a	UTSW	19	6,300,628 (GRCm39)	missense	probably benign	0.01
R1781:Atg2a	UTSW	19	6,306,243 (GRCm39)	missense	probably damaging	0.96
R1854:Atg2a	UTSW	19	6,302,461 (GRCm39)	missense	probably benign	0.11
R1884:Atg2a	UTSW	19	6,304,414 (GRCm39)	missense	probably damaging	1.00
R1899:Atg2a	UTSW	19	6,295,097 (GRCm39)	missense	probably damaging	1.00
R1935:Atg2a	UTSW	19	6,302,566 (GRCm39)	missense	probably damaging	1.00
R2020:Atg2a	UTSW	19	6,300,299 (GRCm39)	critical splice donor site	probably null
R2071:Atg2a	UTSW	19	6,307,488 (GRCm39)	missense	probably benign	0.00
R2513:Atg2a	UTSW	19	6,308,076 (GRCm39)	critical splice donor site	probably null
R3808:Atg2a	UTSW	19	6,302,846 (GRCm39)	missense	possibly damaging	0.71
R4065:Atg2a	UTSW	19	6,308,396 (GRCm39)	missense	probably damaging	1.00
R4109:Atg2a	UTSW	19	6,308,404 (GRCm39)	missense	possibly damaging	0.95
R4352:Atg2a	UTSW	19	6,307,487 (GRCm39)	missense	probably benign	0.04
R4440:Atg2a	UTSW	19	6,305,859 (GRCm39)	critical splice donor site	probably null
R4472:Atg2a	UTSW	19	6,308,985 (GRCm39)	missense	probably damaging	0.98
R4669:Atg2a	UTSW	19	6,309,017 (GRCm39)	critical splice donor site	probably null
R4878:Atg2a	UTSW	19	6,300,274 (GRCm39)	missense	probably damaging	1.00
R4926:Atg2a	UTSW	19	6,307,563 (GRCm39)	missense	probably damaging	0.96
R5237:Atg2a	UTSW	19	6,296,844 (GRCm39)	missense	probably benign
R5350:Atg2a	UTSW	19	6,301,368 (GRCm39)	missense	probably damaging	0.99
R5507:Atg2a	UTSW	19	6,295,100 (GRCm39)	missense	possibly damaging	0.94
R5732:Atg2a	UTSW	19	6,307,490 (GRCm39)	missense	probably damaging	1.00
R5784:Atg2a	UTSW	19	6,311,535 (GRCm39)	missense	probably damaging	1.00
R5960:Atg2a	UTSW	19	6,304,390 (GRCm39)	missense	probably damaging	1.00
R5985:Atg2a	UTSW	19	6,304,667 (GRCm39)	missense	probably damaging	1.00
R6175:Atg2a	UTSW	19	6,291,759 (GRCm39)	unclassified	probably benign
R6572:Atg2a	UTSW	19	6,304,695 (GRCm39)	missense	probably damaging	0.98
R6878:Atg2a	UTSW	19	6,300,208 (GRCm39)	missense	probably damaging	0.99
R6879:Atg2a	UTSW	19	6,301,882 (GRCm39)	missense	possibly damaging	0.70
R6983:Atg2a	UTSW	19	6,310,070 (GRCm39)	missense	probably damaging	0.99
R7024:Atg2a	UTSW	19	6,300,249 (GRCm39)	missense	possibly damaging	0.88
R7217:Atg2a	UTSW	19	6,303,471 (GRCm39)	critical splice donor site	probably null
R7384:Atg2a	UTSW	19	6,311,707 (GRCm39)	missense	probably damaging	1.00
R7387:Atg2a	UTSW	19	6,305,198 (GRCm39)	missense	possibly damaging	0.79
R7425:Atg2a	UTSW	19	6,305,682 (GRCm39)	missense	probably benign	0.02
R7512:Atg2a	UTSW	19	6,310,106 (GRCm39)	missense	probably damaging	1.00
R7658:Atg2a	UTSW	19	6,301,293 (GRCm39)	missense	probably damaging	1.00
R7893:Atg2a	UTSW	19	6,301,326 (GRCm39)	missense	probably damaging	1.00
R8062:Atg2a	UTSW	19	6,302,609 (GRCm39)	critical splice donor site	probably null
R8258:Atg2a	UTSW	19	6,299,859 (GRCm39)	missense	probably damaging	0.98
R8259:Atg2a	UTSW	19	6,299,859 (GRCm39)	missense	probably damaging	0.98
R8350:Atg2a	UTSW	19	6,296,841 (GRCm39)	missense	probably benign	0.03
R8412:Atg2a	UTSW	19	6,294,554 (GRCm39)	missense	probably damaging	1.00
R8450:Atg2a	UTSW	19	6,296,841 (GRCm39)	missense	probably benign	0.03
R8501:Atg2a	UTSW	19	6,304,420 (GRCm39)	missense	probably damaging	1.00
R8738:Atg2a	UTSW	19	6,306,674 (GRCm39)	missense	probably benign	0.00
R8786:Atg2a	UTSW	19	6,294,460 (GRCm39)	missense	probably damaging	1.00
R8810:Atg2a	UTSW	19	6,300,651 (GRCm39)	missense	probably benign	0.01
R8898:Atg2a	UTSW	19	6,306,721 (GRCm39)	splice site	probably benign
R9016:Atg2a	UTSW	19	6,300,111 (GRCm39)	missense	probably damaging	1.00
R9111:Atg2a	UTSW	19	6,311,534 (GRCm39)	missense	probably damaging	1.00
R9177:Atg2a	UTSW	19	6,291,905 (GRCm39)	missense	probably damaging	1.00
R9184:Atg2a	UTSW	19	6,291,887 (GRCm39)	missense	probably damaging	1.00
R9268:Atg2a	UTSW	19	6,291,905 (GRCm39)	missense	probably damaging	1.00
R9496:Atg2a	UTSW	19	6,310,022 (GRCm39)	missense	possibly damaging	0.63
R9570:Atg2a	UTSW	19	6,305,749 (GRCm39)	missense	probably benign	0.03
R9642:Atg2a	UTSW	19	6,300,198 (GRCm39)	nonsense	probably null
X0065:Atg2a	UTSW	19	6,308,226 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGGGATTCTAGGGTACTCTGTCC -3'
(R):5'- GCACATCTTGAACCCCGAAG -3'

Sequencing Primer
(F):5'- CATGGATGCCAAAATCTTCAATTCTG -3'
(R):5'- TTGAACCCCGAAGAGCCAGG -3'

Posted On

2021-01-18