Mutagenetix > Incidental Mutation

Incidental Mutation 'R0590:Atg2a'

60439

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

MMRRC Submission

038780-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R0590 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

6241668-6262335 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC to GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC at 6245007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	C	T	4: 49,383,273 (GRCm38)	M93I	probably benign	Het
Adamts16	T	C	13: 70,800,954 (GRCm38)	D196G	probably benign	Het
Adhfe1	T	A	1: 9,548,153 (GRCm38)		probably null	Het
AI661453	A	G	17: 47,467,074 (GRCm38)		probably benign	Het
Apc	G	T	18: 34,316,230 (GRCm38)	E2026*	probably null	Het
Cad	T	C	5: 31,062,231 (GRCm38)	S688P	probably damaging	Het
Ccdc191	C	T	16: 43,931,341 (GRCm38)	R345*	probably null	Het
Dcaf13	T	A	15: 39,145,085 (GRCm38)		probably benign	Het
Drc1	A	G	5: 30,363,136 (GRCm38)	D607G	probably benign	Het
Fhip1a	T	C	3: 85,672,376 (GRCm38)	R841G	probably benign	Het
Gli1	G	T	10: 127,331,563 (GRCm38)	A607E	possibly damaging	Het
Gls	G	A	1: 52,212,375 (GRCm38)		probably benign	Het
Gria1	A	T	11: 57,289,409 (GRCm38)	Q728H	probably damaging	Het
Hcrtr1	A	G	4: 130,135,694 (GRCm38)	L198P	probably damaging	Het
Ifngr1	T	A	10: 19,603,942 (GRCm38)		probably benign	Het
Ipo5	T	C	14: 120,944,357 (GRCm38)	V954A	possibly damaging	Het
Kcnh5	G	T	12: 74,965,261 (GRCm38)	A628D	probably damaging	Het
Kif14	T	C	1: 136,482,472 (GRCm38)	S646P	probably damaging	Het
Ksr1	A	G	11: 79,045,140 (GRCm38)	S133P	probably damaging	Het
Neb	T	C	2: 52,137,290 (GRCm38)	M7143V	probably damaging	Het
Nelfa	G	A	5: 33,901,825 (GRCm38)	P229S	probably damaging	Het
Nfatc2	T	C	2: 168,571,199 (GRCm38)	T169A	probably damaging	Het
Nr1h4	A	G	10: 89,456,567 (GRCm38)	Y398H	probably damaging	Het
Nrcam	A	G	12: 44,564,032 (GRCm38)	E511G	probably damaging	Het
Ocstamp	T	A	2: 165,397,751 (GRCm38)	R172W	probably damaging	Het
Or10ag60	A	G	2: 87,607,994 (GRCm38)	E202G	probably damaging	Het
Or8d1	T	A	9: 38,855,470 (GRCm38)	M136K	probably damaging	Het
Or8g19	T	C	9: 39,144,721 (GRCm38)	V207A	probably benign	Het
Phf14	G	A	6: 11,961,578 (GRCm38)	V405I	possibly damaging	Het
Plk5	G	A	10: 80,360,223 (GRCm38)	R238H	probably damaging	Het
Pole	A	G	5: 110,317,926 (GRCm38)	E1240G	probably benign	Het
Prdm15	A	G	16: 97,797,761 (GRCm38)	I899T	possibly damaging	Het
Psip1	T	C	4: 83,458,144 (GRCm38)	N486S	probably benign	Het
Rlf	A	G	4: 121,170,833 (GRCm38)		probably benign	Het
Rttn	T	C	18: 88,979,635 (GRCm38)	S255P	probably damaging	Het
Rusf1	A	G	7: 128,297,470 (GRCm38)	L134P	probably damaging	Het
Sema6c	A	G	3: 95,172,623 (GRCm38)	K711E	probably damaging	Het
Slc4a10	A	T	2: 62,190,893 (GRCm38)		probably benign	Het
Trim36	T	G	18: 46,172,576 (GRCm38)	S435R	probably benign	Het
Ucp1	A	G	8: 83,291,603 (GRCm38)		probably benign	Het
Vmn1r17	T	C	6: 57,361,014 (GRCm38)	Y122C	probably benign	Het
Vmn1r23	A	G	6: 57,926,364 (GRCm38)	V143A	probably benign	Het
Wdfy4	T	A	14: 33,041,174 (GRCm38)	Q2166L	probably benign	Het
Zc3h7b	C	T	15: 81,776,998 (GRCm38)	T346M	possibly damaging	Het
Zfhx4	T	A	3: 5,402,633 (GRCm38)	V2617D	probably damaging	Het

Other mutations in Atg2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Atg2a	APN	19	6,254,599 (GRCm38)	missense	probably damaging	1.00
IGL01612:Atg2a	APN	19	6,252,484 (GRCm38)	missense	probably benign	0.03
IGL02105:Atg2a	APN	19	6,250,403 (GRCm38)	splice site	probably benign
IGL02151:Atg2a	APN	19	6,255,757 (GRCm38)	missense	possibly damaging	0.95
IGL02228:Atg2a	APN	19	6,246,800 (GRCm38)	missense	probably benign	0.29
IGL02329:Atg2a	APN	19	6,249,929 (GRCm38)	critical splice donor site	probably null
IGL02408:Atg2a	APN	19	6,241,828 (GRCm38)	nonsense	probably null
IGL02538:Atg2a	APN	19	6,257,628 (GRCm38)	missense	probably benign
IGL02830:Atg2a	APN	19	6,247,681 (GRCm38)	missense	probably benign	0.04
IGL03349:Atg2a	APN	19	6,258,024 (GRCm38)	missense	possibly damaging	0.77
PIT4515001:Atg2a	UTSW	19	6,253,585 (GRCm38)	missense	probably damaging	1.00
R0099:Atg2a	UTSW	19	6,252,789 (GRCm38)	missense	probably damaging	0.97
R0212:Atg2a	UTSW	19	6,246,554 (GRCm38)	missense	probably damaging	1.00
R0365:Atg2a	UTSW	19	6,247,683 (GRCm38)	missense	possibly damaging	0.51
R0398:Atg2a	UTSW	19	6,246,578 (GRCm38)	missense	probably damaging	1.00
R0483:Atg2a	UTSW	19	6,256,602 (GRCm38)	missense	probably benign	0.01
R0483:Atg2a	UTSW	19	6,256,601 (GRCm38)	missense	probably damaging	0.98
R0494:Atg2a	UTSW	19	6,253,377 (GRCm38)	missense	probably damaging	1.00
R0511:Atg2a	UTSW	19	6,252,539 (GRCm38)	missense	possibly damaging	0.89
R0592:Atg2a	UTSW	19	6,245,007 (GRCm38)	unclassified	probably benign
R0593:Atg2a	UTSW	19	6,245,007 (GRCm38)	unclassified	probably benign
R0630:Atg2a	UTSW	19	6,244,517 (GRCm38)	missense	probably damaging	0.99
R1306:Atg2a	UTSW	19	6,253,021 (GRCm38)	missense	probably benign	0.31
R1437:Atg2a	UTSW	19	6,250,616 (GRCm38)	missense	probably damaging	1.00
R1539:Atg2a	UTSW	19	6,246,771 (GRCm38)	splice site	probably null
R1774:Atg2a	UTSW	19	6,250,598 (GRCm38)	missense	probably benign	0.01
R1781:Atg2a	UTSW	19	6,256,213 (GRCm38)	missense	probably damaging	0.96
R1854:Atg2a	UTSW	19	6,252,431 (GRCm38)	missense	probably benign	0.11
R1884:Atg2a	UTSW	19	6,254,384 (GRCm38)	missense	probably damaging	1.00
R1899:Atg2a	UTSW	19	6,245,067 (GRCm38)	missense	probably damaging	1.00
R1935:Atg2a	UTSW	19	6,252,536 (GRCm38)	missense	probably damaging	1.00
R2020:Atg2a	UTSW	19	6,250,269 (GRCm38)	critical splice donor site	probably null
R2071:Atg2a	UTSW	19	6,257,458 (GRCm38)	missense	probably benign	0.00
R2513:Atg2a	UTSW	19	6,258,046 (GRCm38)	critical splice donor site	probably null
R3808:Atg2a	UTSW	19	6,252,816 (GRCm38)	missense	possibly damaging	0.71
R4065:Atg2a	UTSW	19	6,258,366 (GRCm38)	missense	probably damaging	1.00
R4109:Atg2a	UTSW	19	6,258,374 (GRCm38)	missense	possibly damaging	0.95
R4352:Atg2a	UTSW	19	6,257,457 (GRCm38)	missense	probably benign	0.04
R4440:Atg2a	UTSW	19	6,255,829 (GRCm38)	critical splice donor site	probably null
R4472:Atg2a	UTSW	19	6,258,955 (GRCm38)	missense	probably damaging	0.98
R4669:Atg2a	UTSW	19	6,258,987 (GRCm38)	critical splice donor site	probably null
R4878:Atg2a	UTSW	19	6,250,244 (GRCm38)	missense	probably damaging	1.00
R4926:Atg2a	UTSW	19	6,257,533 (GRCm38)	missense	probably damaging	0.96
R5237:Atg2a	UTSW	19	6,246,814 (GRCm38)	missense	probably benign
R5350:Atg2a	UTSW	19	6,251,338 (GRCm38)	missense	probably damaging	0.99
R5507:Atg2a	UTSW	19	6,245,070 (GRCm38)	missense	possibly damaging	0.94
R5732:Atg2a	UTSW	19	6,257,460 (GRCm38)	missense	probably damaging	1.00
R5784:Atg2a	UTSW	19	6,261,505 (GRCm38)	missense	probably damaging	1.00
R5960:Atg2a	UTSW	19	6,254,360 (GRCm38)	missense	probably damaging	1.00
R5985:Atg2a	UTSW	19	6,254,637 (GRCm38)	missense	probably damaging	1.00
R6175:Atg2a	UTSW	19	6,241,729 (GRCm38)	unclassified	probably benign
R6572:Atg2a	UTSW	19	6,254,665 (GRCm38)	missense	probably damaging	0.98
R6878:Atg2a	UTSW	19	6,250,178 (GRCm38)	missense	probably damaging	0.99
R6879:Atg2a	UTSW	19	6,251,852 (GRCm38)	missense	possibly damaging	0.70
R6983:Atg2a	UTSW	19	6,260,040 (GRCm38)	missense	probably damaging	0.99
R7024:Atg2a	UTSW	19	6,250,219 (GRCm38)	missense	possibly damaging	0.88
R7217:Atg2a	UTSW	19	6,253,441 (GRCm38)	critical splice donor site	probably null
R7384:Atg2a	UTSW	19	6,261,677 (GRCm38)	missense	probably damaging	1.00
R7387:Atg2a	UTSW	19	6,255,168 (GRCm38)	missense	possibly damaging	0.79
R7425:Atg2a	UTSW	19	6,255,652 (GRCm38)	missense	probably benign	0.02
R7512:Atg2a	UTSW	19	6,260,076 (GRCm38)	missense	probably damaging	1.00
R7658:Atg2a	UTSW	19	6,251,263 (GRCm38)	missense	probably damaging	1.00
R7893:Atg2a	UTSW	19	6,251,296 (GRCm38)	missense	probably damaging	1.00
R8062:Atg2a	UTSW	19	6,252,579 (GRCm38)	critical splice donor site	probably null
R8258:Atg2a	UTSW	19	6,249,829 (GRCm38)	missense	probably damaging	0.98
R8259:Atg2a	UTSW	19	6,249,829 (GRCm38)	missense	probably damaging	0.98
R8350:Atg2a	UTSW	19	6,246,811 (GRCm38)	missense	probably benign	0.03
R8412:Atg2a	UTSW	19	6,244,524 (GRCm38)	missense	probably damaging	1.00
R8450:Atg2a	UTSW	19	6,246,811 (GRCm38)	missense	probably benign	0.03
R8474:Atg2a	UTSW	19	6,251,403 (GRCm38)	critical splice donor site	probably null
R8501:Atg2a	UTSW	19	6,254,390 (GRCm38)	missense	probably damaging	1.00
R8738:Atg2a	UTSW	19	6,256,644 (GRCm38)	missense	probably benign	0.00
R8786:Atg2a	UTSW	19	6,244,430 (GRCm38)	missense	probably damaging	1.00
R8810:Atg2a	UTSW	19	6,250,621 (GRCm38)	missense	probably benign	0.01
R8898:Atg2a	UTSW	19	6,256,691 (GRCm38)	splice site	probably benign
R9016:Atg2a	UTSW	19	6,250,081 (GRCm38)	missense	probably damaging	1.00
R9111:Atg2a	UTSW	19	6,261,504 (GRCm38)	missense	probably damaging	1.00
R9177:Atg2a	UTSW	19	6,241,875 (GRCm38)	missense	probably damaging	1.00
R9184:Atg2a	UTSW	19	6,241,857 (GRCm38)	missense	probably damaging	1.00
R9268:Atg2a	UTSW	19	6,241,875 (GRCm38)	missense	probably damaging	1.00
R9496:Atg2a	UTSW	19	6,259,992 (GRCm38)	missense	possibly damaging	0.63
R9570:Atg2a	UTSW	19	6,255,719 (GRCm38)	missense	probably benign	0.03
R9642:Atg2a	UTSW	19	6,250,168 (GRCm38)	nonsense	probably null
X0065:Atg2a	UTSW	19	6,258,196 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCACAGACCATTGAGACTGGTGAG -3'
(R):5'- CAACATGGAACTGAGGAACCTGGC -3'

Sequencing Primer
(F):5'- ACTGGTGAGCAGGTCCCTAC -3'
(R):5'- AACCAGCCTTTGGTTCTGAG -3'

Posted On

2013-07-11