Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Atg2a'

33179

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R0099 (G1)

Quality Score

178

Status

Validated (trace)

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6302819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1010 (V1010E)

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045351
AA Change: V1010E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: V1010E

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

noncoding transcript
Transcript: ENSMUST00000135018

Predicted Effect

unknown
Transcript: ENSMUST00000145600
AA Change: V811E

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: V811E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151079

Meta Mutation Damage Score

0.1247

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,061,231 (GRCm39)	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fam76a	G	T	4: 132,638,098 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,966 (GRCm39)	T34A	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Or8g4	A	G	9: 39,661,957 (GRCm39)	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rgs17	T	A	10: 5,792,583 (GRCm39)	R74S	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	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
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
R8474:Atg2a	UTSW	19	6,301,433 (GRCm39)	critical splice donor site	probably null
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'- AGCAAGGCACCATCTTCAGCGTAG -3'
(R):5'- TTCCAGGGCAACATGACTTCCCAG -3'

Sequencing Primer
(F):5'- ACTCTACCATCGAGGTATGGG -3'
(R):5'- AGTGCCAGCTCTGTTCAG -3'

Posted On

2013-05-09