Incidental Mutation 'R2020:Atg2a'
ID 223903
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 040029-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R2020 (G1)
Quality Score 225
Status Validated
Chromosome 19
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 6300299 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

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000145600
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773

DomainStartEndE-ValueType
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 0.9497 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C A 1: 158,796,482 (GRCm39) noncoding transcript Het
Adam17 G A 12: 21,399,876 (GRCm39) R177C probably damaging Het
Ak7 G A 12: 105,711,591 (GRCm39) probably null Het
Akap9 T C 5: 4,011,967 (GRCm39) V890A probably damaging Het
Alg6 A G 4: 99,626,369 (GRCm39) N59S probably damaging Het
Alkbh5 G T 11: 60,429,375 (GRCm39) A43S probably benign Het
Anxa2 C A 9: 69,391,099 (GRCm39) D162E probably damaging Het
Arap1 A G 7: 101,050,725 (GRCm39) H1136R probably benign Het
Arhgap18 A G 10: 26,730,900 (GRCm39) R121G probably benign Het
Arhgef4 A T 1: 34,762,891 (GRCm39) T716S unknown Het
Ccdc27 T C 4: 154,117,770 (GRCm39) I480V probably null Het
Cdipt T C 7: 126,576,105 (GRCm39) V20A possibly damaging Het
Cgrrf1 C T 14: 47,067,902 (GRCm39) probably benign Het
Chd7 G A 4: 8,855,226 (GRCm39) V2152I probably benign Het
Chd8 T A 14: 52,452,698 (GRCm39) S1274C probably damaging Het
Chuk A T 19: 44,095,782 (GRCm39) M17K possibly damaging Het
Col14a1 C T 15: 55,309,577 (GRCm39) probably benign Het
Col20a1 G A 2: 180,654,956 (GRCm39) probably null Het
Cped1 A G 6: 22,143,963 (GRCm39) I570V probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Ddx27 A C 2: 166,875,691 (GRCm39) Q674P probably damaging Het
Dennd6a T A 14: 26,333,158 (GRCm39) F131L probably damaging Het
Dhx38 G A 8: 110,283,501 (GRCm39) probably benign Het
Dido1 G T 2: 180,301,378 (GRCm39) N2175K unknown Het
Dmxl1 T A 18: 50,022,625 (GRCm39) Y1654* probably null Het
Dock7 T A 4: 98,847,338 (GRCm39) H1658L probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm39) E2061D probably damaging Het
Dync2h1 T C 9: 7,162,925 (GRCm39) I555V probably benign Het
Eif2ak2 T C 17: 79,171,392 (GRCm39) E337G possibly damaging Het
Fabp12 T A 3: 10,315,209 (GRCm39) D46V probably benign Het
Fcgbpl1 T C 7: 27,855,019 (GRCm39) S1882P probably benign Het
Fech C T 18: 64,611,798 (GRCm39) E79K probably damaging Het
Flnc A T 6: 29,444,362 (GRCm39) I693F probably damaging Het
Foxp2 G A 6: 15,324,643 (GRCm39) C97Y possibly damaging Het
Grin2b A G 6: 135,710,894 (GRCm39) M884T probably benign Het
Gtf2ird1 T C 5: 134,445,947 (GRCm39) D28G probably damaging Het
Gtf3c4 C A 2: 28,723,906 (GRCm39) G468W possibly damaging Het
Ift172 A T 5: 31,424,585 (GRCm39) L201* probably null Het
Ift70a1 A G 2: 75,811,279 (GRCm39) V268A probably benign Het
Il1rl2 C A 1: 40,404,374 (GRCm39) S498R probably damaging Het
Ildr1 C T 16: 36,545,903 (GRCm39) R489W probably damaging Het
Itga10 G A 3: 96,559,806 (GRCm39) G487D probably damaging Het
Klk1b8 A G 7: 43,448,640 (GRCm39) N128D probably benign Het
Lgr6 G A 1: 135,003,013 (GRCm39) T79M probably damaging Het
Med6 T C 12: 81,620,651 (GRCm39) T232A probably benign Het
Mgat4e A G 1: 134,469,060 (GRCm39) L328P probably damaging Het
Mttp A G 3: 137,824,163 (GRCm39) Y138H probably damaging Het
Ngef T C 1: 87,473,690 (GRCm39) R31G probably benign Het
Nipsnap2 C A 5: 129,830,287 (GRCm39) probably null Het
Nlgn2 G T 11: 69,719,267 (GRCm39) N194K probably damaging Het
Or1q1 G A 2: 36,887,664 (GRCm39) V281M possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Or5b98 G A 19: 12,931,696 (GRCm39) V248I possibly damaging Het
Or5m13b A G 2: 85,754,087 (GRCm39) I158M probably benign Het
Or8c16 A G 9: 38,130,728 (GRCm39) Y203C possibly damaging Het
Pcca T A 14: 123,050,634 (GRCm39) M101K possibly damaging Het
Plekha6 A G 1: 133,212,708 (GRCm39) T671A possibly damaging Het
Prex2 G A 1: 11,232,536 (GRCm39) V868M probably damaging Het
Prkcq G A 2: 11,284,332 (GRCm39) V501I probably benign Het
Prom1 T A 5: 44,168,595 (GRCm39) probably benign Het
Ptprd A G 4: 76,051,398 (GRCm39) V41A probably damaging Het
Rab39 C T 9: 53,597,698 (GRCm39) G189E possibly damaging Het
Ret T C 6: 118,157,343 (GRCm39) K236E possibly damaging Het
Rfx6 G A 10: 51,596,153 (GRCm39) probably null Het
Rnf213 A G 11: 119,352,744 (GRCm39) T3916A probably damaging Het
Rpn1 A G 6: 88,072,665 (GRCm39) N336S probably damaging Het
Sag G A 1: 87,733,037 (GRCm39) A2T probably damaging Het
Sco2 T C 15: 89,256,063 (GRCm39) Y197C probably damaging Het
Sec23b T C 2: 144,408,864 (GRCm39) I183T possibly damaging Het
Sec24b C T 3: 129,781,377 (GRCm39) V1166M probably damaging Het
Slc27a5 A T 7: 12,727,339 (GRCm39) F361Y probably damaging Het
Spaca9 A G 2: 28,586,013 (GRCm39) L17P probably damaging Het
Sqor T C 2: 122,646,027 (GRCm39) probably null Het
Stx18 A G 5: 38,292,588 (GRCm39) H230R probably damaging Het
Tas2r130 A T 6: 131,607,732 (GRCm39) I21N probably damaging Het
Tcaf3 A G 6: 42,570,658 (GRCm39) S365P possibly damaging Het
Tinagl1 G A 4: 130,060,765 (GRCm39) H351Y probably damaging Het
Tmc2 T C 2: 130,074,305 (GRCm39) Y333H probably damaging Het
Trp53bp2 A T 1: 182,270,384 (GRCm39) T395S probably damaging Het
Tsc22d1 T C 14: 76,655,773 (GRCm39) S751P probably damaging Het
Ttn A G 2: 76,657,368 (GRCm39) probably benign Het
Ugdh T C 5: 65,574,268 (GRCm39) Y425C probably damaging Het
Vmn1r115 G A 7: 20,578,094 (GRCm39) L273F probably null Het
Vmn2r109 A T 17: 20,761,448 (GRCm39) C636* probably null Het
Vmn2r59 A C 7: 41,693,203 (GRCm39) Y466D probably damaging Het
Zic5 C T 14: 122,702,242 (GRCm39) G163D unknown Het
Other mutations in Atg2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGTGTTTCGTCTCTCAGCAC -3'
(R):5'- GATTCAGAGCTTTGGAGACCCG -3'

Sequencing Primer
(F):5'- ACCCTGAGGCTACGCTTC -3'
(R):5'- TTCGTAGATTCCTGGAGG -3'
Posted On 2014-08-25