Mutagenetix > Incidental Mutation

Incidental Mutation 'R9111:Atg2a'

692275

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

MMRRC Submission

068971-MU

Accession Numbers

Essential gene?

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

Stock #

R9111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6311534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1830 (A1830T)

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045351
AA Change: A1830T

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

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: A1830T

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: A1633T

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: 99.8%
20x: 99.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,696,646 (GRCm39)	N210S		Het
Adamts17	A	G	7: 66,489,648 (GRCm39)	D22G	probably damaging	Het
Aldh3b1	T	C	19: 3,971,797 (GRCm39)	E58G	probably damaging	Het
Birc6	T	C	17: 74,966,340 (GRCm39)	V4118A	probably damaging	Het
Ccdc28a	G	A	10: 18,100,750 (GRCm39)	P73S	possibly damaging	Het
Cdc42bpb	A	T	12: 111,284,903 (GRCm39)	D771E	probably benign	Het
Cdk14	G	A	5: 5,315,985 (GRCm39)	P13S	possibly damaging	Het
Cdr2	G	A	7: 120,559,345 (GRCm39)	S158F	possibly damaging	Het
Cfap44	A	T	16: 44,252,326 (GRCm39)	T812S	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cp	A	T	3: 20,027,949 (GRCm39)	I452F	probably damaging	Het
Dcdc2c	T	A	12: 28,585,488 (GRCm39)	I2F	probably damaging	Het
Dlat	G	A	9: 50,570,906 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,601,017 (GRCm39)	D984G	possibly damaging	Het
Dsc2	T	C	18: 20,167,764 (GRCm39)	I710V	probably benign	Het
Eif4e	A	G	3: 138,252,122 (GRCm39)	E20G	probably benign	Het
Fbxw16	T	C	9: 109,265,679 (GRCm39)	Y380C	probably damaging	Het
Fscn3	A	G	6: 28,430,310 (GRCm39)	D160G	probably damaging	Het
Gm9195	G	A	14: 72,694,123 (GRCm39)	Q1531*	probably null	Het
Hps3	T	C	3: 20,084,575 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igsf1	C	T	X: 48,875,736 (GRCm39)	E755K	probably null	Het
Kalrn	A	G	16: 34,181,371 (GRCm39)	V89A	probably damaging	Het
Kcng1	C	A	2: 168,104,535 (GRCm39)	G437V	probably damaging	Het
Krt82	C	T	15: 101,451,786 (GRCm39)	R343Q	probably benign	Het
Lbr	T	C	1: 181,645,068 (GRCm39)	D528G	possibly damaging	Het
Macf1	T	C	4: 123,406,819 (GRCm39)	E256G	probably damaging	Het
Mier2	T	C	10: 79,381,285 (GRCm39)		probably benign	Het
Mmp9	T	A	2: 164,792,726 (GRCm39)		probably null	Het
Myrf	A	G	19: 10,191,421 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,280,585 (GRCm39)	T82S	possibly damaging	Het
Or4c107	G	A	2: 88,789,055 (GRCm39)	V82I	probably benign	Het
P2rx6	G	T	16: 17,385,627 (GRCm39)	W176L	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pik3c2a	A	G	7: 115,993,531 (GRCm39)	V412A	probably damaging	Het
Prkd2	A	G	7: 16,584,131 (GRCm39)	E328G	probably benign	Het
Prmt1	A	C	7: 44,631,169 (GRCm39)	V114G	probably damaging	Het
Rnf133	G	A	6: 23,648,928 (GRCm39)	H334Y	probably benign	Het
Rps18-ps5	T	A	13: 28,441,626 (GRCm39)	L3Q	probably damaging	Het
Secisbp2l	A	G	2: 125,602,206 (GRCm39)	S385P	probably benign	Het
Sel1l3	A	T	5: 53,279,213 (GRCm39)		probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sfpq	CCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGC	4: 126,915,401 (GRCm39)		probably benign	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc5a4b	A	T	10: 75,925,827 (GRCm39)		probably benign	Het
Slc9a3	A	G	13: 74,298,920 (GRCm39)	Y113C	probably damaging	Het
Ugt3a1	T	C	15: 9,306,333 (GRCm39)	F161L	possibly damaging	Het
Zhx2	T	C	15: 57,685,984 (GRCm39)	I451T	probably damaging	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
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
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'- ATAGTCATGCTGGAAGGTCTG -3'
(R):5'- CACGTTGGATGTTGCCTCTG -3'

Sequencing Primer
(F):5'- ATGCTGGAAGGTCTGGTCCC -3'
(R):5'- AGCTGTCGGATCACACCC -3'

Posted On

2021-12-30