Incidental Mutation 'R1539:Atg2a'
ID 262838
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 039578-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R1539 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6291698-6312365 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 6296801 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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,652,097 (GRCm39) probably null Het
Adh7 A C 3: 137,929,716 (GRCm39) T131P possibly damaging Het
Agxt G A 1: 93,065,701 (GRCm39) G190D probably damaging Het
AI182371 A G 2: 34,978,815 (GRCm39) I193T probably damaging Het
Akna T A 4: 63,297,547 (GRCm39) T836S probably benign Het
Alox12 T C 11: 70,144,069 (GRCm39) probably null Het
Anapc2 C A 2: 25,163,075 (GRCm39) T104K probably benign Het
Ank1 T C 8: 23,583,935 (GRCm39) L346P probably damaging Het
Ankfn1 A T 11: 89,332,217 (GRCm39) I443N probably damaging Het
Arhgef17 G A 7: 100,539,680 (GRCm39) T1066I probably damaging Het
Bpifb5 T A 2: 154,065,776 (GRCm39) H24Q probably benign Het
Brd9 A G 13: 74,092,862 (GRCm39) E283G probably damaging Het
Cadm2 C A 16: 66,581,727 (GRCm39) V184F probably damaging Het
Casr A G 16: 36,315,499 (GRCm39) V857A probably benign Het
Ccdc18 A T 5: 108,339,843 (GRCm39) Q796L probably damaging Het
Cep290 T C 10: 100,332,690 (GRCm39) V263A probably benign Het
Clec10a A T 11: 70,060,645 (GRCm39) N167Y probably damaging Het
Cog1 A G 11: 113,543,058 (GRCm39) I189V possibly damaging Het
Commd2 A G 3: 57,554,269 (GRCm39) I144T probably benign Het
Cse1l A G 2: 166,768,292 (GRCm39) T197A probably benign Het
Csmd3 A T 15: 47,683,794 (GRCm39) S1783R probably benign Het
Cxxc1 T C 18: 74,352,278 (GRCm39) V334A possibly damaging Het
Dennd2d A G 3: 106,394,236 (GRCm39) I39V probably benign Het
Dgkz G A 2: 91,768,405 (GRCm39) P734S probably damaging Het
Diaph3 T C 14: 86,893,916 (GRCm39) D31G probably damaging Het
Dlec1 T C 9: 118,956,518 (GRCm39) S731P probably benign Het
Dmac2l G A 12: 69,787,845 (GRCm39) D94N probably benign Het
Dnah11 T C 12: 117,894,991 (GRCm39) R3619G probably benign Het
Doc2b A G 11: 75,662,783 (GRCm39) L405P probably damaging Het
Dock3 A T 9: 106,829,563 (GRCm39) I1117N probably damaging Het
Dock3 G A 9: 106,874,112 (GRCm39) A453V probably benign Het
Ece2 T A 16: 20,461,263 (GRCm39) I474N probably damaging Het
Etv4 A T 11: 101,662,513 (GRCm39) probably null Het
Fam171b A T 2: 83,710,442 (GRCm39) M705L probably benign Het
Frem2 T C 3: 53,561,631 (GRCm39) K959E probably benign Het
Fyn T C 10: 39,408,066 (GRCm39) M251T possibly damaging Het
Galnt13 G A 2: 54,747,869 (GRCm39) G250E probably damaging Het
Ggh T C 4: 20,054,204 (GRCm39) probably null Het
Glcci1 A G 6: 8,591,620 (GRCm39) E222G probably damaging Het
Gm1968 G A 16: 29,777,659 (GRCm39) noncoding transcript Het
Gm3604 T A 13: 62,519,414 (GRCm39) I52F possibly damaging Het
Gm43302 T C 5: 105,422,635 (GRCm39) I466V probably benign Het
Gm9789 T C 16: 88,955,034 (GRCm39) S48P unknown Het
Gpat3 A T 5: 101,031,254 (GRCm39) Y136F probably benign Het
Gpr171 T C 3: 59,005,142 (GRCm39) D211G possibly damaging Het
Grep1 T A 17: 23,936,118 (GRCm39) probably benign Het
Hs3st1 T C 5: 39,771,791 (GRCm39) K284R probably benign Het
Htr2a C T 14: 74,882,608 (GRCm39) A198V possibly damaging Het
Ice1 C A 13: 70,754,023 (GRCm39) D688Y probably damaging Het
Jade1 T C 3: 41,559,431 (GRCm39) M504T probably benign Het
Lrp1 T C 10: 127,420,250 (GRCm39) probably null Het
Lsr A T 7: 30,671,517 (GRCm39) I72N possibly damaging Het
Magel2 G A 7: 62,028,557 (GRCm39) R487H possibly damaging Het
Mertk A G 2: 128,624,446 (GRCm39) D619G probably benign Het
Myo1b A T 1: 51,838,722 (GRCm39) V245E probably damaging Het
Myrip T A 9: 120,253,689 (GRCm39) L254Q probably benign Het
Nav3 A G 10: 109,603,031 (GRCm39) S1173P probably damaging Het
Ncoa7 T C 10: 30,647,725 (GRCm39) Y17C probably damaging Het
Ncor2 T C 5: 125,187,003 (GRCm39) E7G probably benign Het
Ninl A G 2: 150,817,867 (GRCm39) V99A probably damaging Het
Noct G T 3: 51,155,333 (GRCm39) E34* probably null Het
Notch1 A T 2: 26,362,125 (GRCm39) Y1043* probably null Het
Or10v1 T C 19: 11,873,855 (GRCm39) S157P possibly damaging Het
Or13a21 T A 7: 139,999,326 (GRCm39) Y120F probably benign Het
Or2d3 A G 7: 106,490,483 (GRCm39) Y278H probably damaging Het
Or6c88 G A 10: 129,406,640 (GRCm39) G39R probably damaging Het
Pde7b C A 10: 20,355,432 (GRCm39) R104L possibly damaging Het
Pkn1 C A 8: 84,396,966 (GRCm39) R890L possibly damaging Het
Podn A T 4: 107,878,764 (GRCm39) Y368N probably damaging Het
Polr1b G A 2: 128,960,019 (GRCm39) probably null Het
Ppp1r3c A T 19: 36,711,361 (GRCm39) F136L probably benign Het
Ppp2ca T A 11: 52,011,800 (GRCm39) F260Y probably damaging Het
Prss39 A G 1: 34,537,616 (GRCm39) S27G possibly damaging Het
Ptch1 A G 13: 63,689,101 (GRCm39) V340A probably benign Het
Ranbp17 T C 11: 33,247,394 (GRCm39) I246V probably damaging Het
Rilpl1 T A 5: 124,653,618 (GRCm39) D181V probably damaging Het
Sdk1 T A 5: 142,080,354 (GRCm39) V1282D probably damaging Het
Sh3rf2 T C 18: 42,282,887 (GRCm39) S514P probably damaging Het
Slc35f2 A T 9: 53,716,992 (GRCm39) I252F possibly damaging Het
Slc7a1 A G 5: 148,272,403 (GRCm39) Y425H possibly damaging Het
Spaca4 G T 7: 45,374,984 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,863,733 (GRCm39) S294P possibly damaging Het
Ssh1 T G 5: 114,090,064 (GRCm39) T342P probably damaging Het
Stk10 T A 11: 32,483,440 (GRCm39) S13T possibly damaging Het
Tbx1 G T 16: 18,402,843 (GRCm39) D214E probably benign Het
Tdp1 A G 12: 99,878,571 (GRCm39) E453G probably damaging Het
Tlr1 T C 5: 65,084,319 (GRCm39) Y86C probably damaging Het
Tmem241 A T 18: 12,176,297 (GRCm39) C124S possibly damaging Het
Trp63 A G 16: 25,703,599 (GRCm39) M516V probably benign Het
Ttc28 T C 5: 111,248,677 (GRCm39) V210A possibly damaging Het
Tut1 C T 19: 8,942,850 (GRCm39) R646W probably benign Het
Ubald1 C T 16: 4,694,261 (GRCm39) E49K possibly damaging Het
Usp28 T C 9: 48,949,096 (GRCm39) Y897H probably benign Het
Vmn2r27 A C 6: 124,168,730 (GRCm39) F800C probably damaging Het
Vmn2r83 T A 10: 79,327,759 (GRCm39) M789K probably damaging Het
Vwa8 A G 14: 79,300,002 (GRCm39) D945G probably benign Het
Wdhd1 T A 14: 47,482,507 (GRCm39) K947N possibly damaging Het
Wdr12 A T 1: 60,123,007 (GRCm39) probably null Het
Xrra1 A T 7: 99,520,564 (GRCm39) E57V probably damaging 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
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
Posted On 2015-02-04