Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Atg2a'

645498

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

MMRRC Submission

067868-MU

Accession Numbers

Essential gene?

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

Stock #

R8350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6296841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 382 (S382P)

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably benign
Transcript: ENSMUST00000045351
AA Change: S382P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: S382P

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

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: S183P

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Akirin2	T	A	4: 34,551,082 (GRCm39)	F13Y	probably damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Armc12	T	A	17: 28,751,031 (GRCm39)	D82E	probably damaging	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Cep170	A	G	1: 176,564,445 (GRCm39)	L271S		Het
Cers3	T	C	7: 66,414,090 (GRCm39)	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,450,746 (GRCm39)	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,882,821 (GRCm39)	K202*	probably null	Het
Cnp	T	C	11: 100,467,267 (GRCm39)	I70T	probably damaging	Het
Col27a1	C	A	4: 63,248,134 (GRCm39)	T1721K	unknown	Het
Crtac1	G	A	19: 42,297,625 (GRCm39)	R242W	probably damaging	Het
Cry2	T	C	2: 92,244,286 (GRCm39)	R296G	probably benign	Het
Cyp2t4	A	G	7: 26,856,806 (GRCm39)	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,100,690 (GRCm39)	T1495N	probably damaging	Het
Dmbt1	T	C	7: 130,687,147 (GRCm39)		probably null	Het
Dmp1	A	T	5: 104,360,765 (GRCm39)	K480N	probably damaging	Het
Dnah17	A	G	11: 117,977,873 (GRCm39)	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,172,798 (GRCm39)	V220A	probably benign	Het
Eif4a3l1	C	T	6: 136,306,241 (GRCm39)	T234I	possibly damaging	Het
Epha3	T	C	16: 63,472,853 (GRCm39)	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,327,102 (GRCm39)	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,461,663 (GRCm39)	D116V	probably damaging	Het
Fam81a	T	C	9: 70,032,300 (GRCm39)	N64S	probably damaging	Het
Fat3	T	A	9: 15,826,435 (GRCm39)	T358S		Het
Frat2	A	T	19: 41,836,223 (GRCm39)	I43N	probably damaging	Het
Fryl	A	T	5: 73,226,073 (GRCm39)	D1863E	probably benign	Het
Gm43302	A	T	5: 105,422,573 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,363,273 (GRCm39)	Y422C	probably damaging	Het
Hap1	T	G	11: 100,240,107 (GRCm39)	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,475,951 (GRCm39)	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,780,390 (GRCm39)	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,297,734 (GRCm39)	L341R	probably benign	Het
Kbtbd11	G	A	8: 15,078,603 (GRCm39)	V401M	probably damaging	Het
Lss	T	A	10: 76,371,429 (GRCm39)	L120Q	probably damaging	Het
Mdc1	T	G	17: 36,159,191 (GRCm39)	S524A	probably benign	Het
Myoz3	T	C	18: 60,712,074 (GRCm39)	Y168C	probably damaging	Het
Nceh1	C	A	3: 27,293,813 (GRCm39)	D190E	probably damaging	Het
Neb	T	C	2: 52,096,194 (GRCm39)	R5039G	probably benign	Het
Nup50	T	A	15: 84,819,476 (GRCm39)	V250E	probably benign	Het
Pcnx3	T	A	19: 5,723,254 (GRCm39)	N1314Y	probably damaging	Het
Pdzk1	A	G	3: 96,759,024 (GRCm39)	N143S	probably benign	Het
Rnf223	T	G	4: 156,217,120 (GRCm39)	L165R	probably damaging	Het
Sbf1	A	T	15: 89,183,712 (GRCm39)	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,160,113 (GRCm39)	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 56,135,363 (GRCm39)	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,448,191 (GRCm39)	R71G	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Syk	T	C	13: 52,774,935 (GRCm39)	L225P	probably damaging	Het
Tbx1	A	T	16: 18,400,795 (GRCm39)	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891 (GRCm39)	R19H	probably benign	Het
Ttn	T	A	2: 76,609,108 (GRCm39)	I17666F	possibly damaging	Het
Vcpip1	A	G	1: 9,794,831 (GRCm39)	V1180A	probably benign	Het
Wdr27	T	C	17: 15,152,787 (GRCm39)	T107A	probably benign	Het
Zfp106	T	C	2: 120,366,099 (GRCm39)	R58G		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
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'- TCAATTTGGACAGCACGGG -3'
(R):5'- TTAGGACACTGAGGAACCCC -3'

Sequencing Primer
(F):5'- GACAGCACGGGTGGGTG -3'
(R):5'- TCTACAGGCATGGCTGGAG -3'

Posted On

2020-09-02