Incidental Mutation 'R4926:Atg2a'
ID 379073
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 042527-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R4926 (G1)
Quality Score 145
Status Validated
Chromosome 19
Chromosomal Location 6291698-6312365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6307563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1499 (L1499P)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
AlphaFold Q6P4T0
Predicted Effect probably damaging
Transcript: ENSMUST00000045351
AA Change: L1499P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: L1499P

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: ENSMUST00000143053
Predicted Effect unknown
Transcript: ENSMUST00000145600
AA Change: L1302P
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: L1302P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151079
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,272,498 (GRCm39) D136V probably damaging Het
Ankrd17 G A 5: 90,447,891 (GRCm39) R217W probably damaging Het
Ankrd23 A T 1: 36,571,068 (GRCm39) H102Q probably damaging Het
Arfip2 G T 7: 105,287,151 (GRCm39) R138S probably damaging Het
Arhgap27 A T 11: 103,229,949 (GRCm39) probably null Het
Bnc2 A G 4: 84,194,416 (GRCm39) S110P probably damaging Het
Ccdc171 T C 4: 83,476,829 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,706,535 (GRCm39) probably benign Het
Chd5 T C 4: 152,467,768 (GRCm39) S1689P probably benign Het
Corin A G 5: 72,529,525 (GRCm39) C212R probably damaging Het
Cyp2c65 A G 19: 39,049,597 (GRCm39) I42V probably benign Het
Cyp3a25 G A 5: 145,928,266 (GRCm39) R260C probably damaging Het
Dock6 T C 9: 21,757,087 (GRCm39) Y116C probably damaging Het
Eif3a A G 19: 60,751,656 (GRCm39) probably benign Het
Epop T C 11: 97,519,143 (GRCm39) D322G probably damaging Het
Eps8l3 T A 3: 107,798,004 (GRCm39) probably benign Het
Exph5 T C 9: 53,287,925 (GRCm39) S1669P possibly damaging Het
Faah A T 4: 115,856,823 (GRCm39) probably benign Het
Fanca A G 8: 124,030,724 (GRCm39) C453R probably benign Het
Fcgbp T A 7: 27,785,660 (GRCm39) C366S probably damaging Het
Fmn2 A G 1: 174,329,981 (GRCm39) T124A unknown Het
Foxi3 C T 6: 70,933,996 (GRCm39) S161L probably damaging Het
Foxo3 A T 10: 42,073,020 (GRCm39) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Gm839 A C 6: 89,189,581 (GRCm39) noncoding transcript Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Hspa1l A G 17: 35,197,199 (GRCm39) T413A possibly damaging Het
Hspg2 T C 4: 137,269,841 (GRCm39) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,884,093 (GRCm39) I53L probably benign Het
Kcnj11 C T 7: 45,748,544 (GRCm39) V260I probably benign Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrrc41 T C 4: 115,946,521 (GRCm39) V412A possibly damaging Het
Map4k4 A T 1: 40,056,385 (GRCm39) E1023D probably damaging Het
Mark3 T A 12: 111,584,758 (GRCm39) L118* probably null Het
Mrgpra9 T A 7: 46,884,759 (GRCm39) T303S possibly damaging Het
Mterf4 T C 1: 93,232,647 (GRCm39) E68G probably benign Het
Nckap5 A C 1: 126,456,378 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,169 (GRCm39) T339S probably damaging Het
Nrip2 A C 6: 128,385,337 (GRCm39) H256P probably benign Het
Oas1d T C 5: 121,053,831 (GRCm39) V97A probably benign Het
Obox2 T A 7: 15,131,102 (GRCm39) probably null Het
Opa1 T C 16: 29,467,791 (GRCm39) F989S possibly damaging Het
Or10g9 T C 9: 39,912,319 (GRCm39) probably null Het
Padi1 T A 4: 140,552,158 (GRCm39) I429F probably damaging Het
Paics A G 5: 77,109,051 (GRCm39) D163G probably damaging Het
Pik3c2b G T 1: 133,027,364 (GRCm39) E1288* probably null Het
Prdm16 A T 4: 154,426,009 (GRCm39) V593D possibly damaging Het
Prpf39 A G 12: 65,090,830 (GRCm39) I165M possibly damaging Het
Pth2r A G 1: 65,361,143 (GRCm39) T26A probably benign Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Rab44 C T 17: 29,358,529 (GRCm39) A239V probably benign Het
Rtcb T C 10: 85,791,600 (GRCm39) N52S probably benign Het
Sapcd2 T A 2: 25,263,578 (GRCm39) probably null Het
Scaf11 T C 15: 96,316,123 (GRCm39) E1147G possibly damaging Het
Selenoo T C 15: 88,983,881 (GRCm39) Y595H probably damaging Het
Slc2a5 G T 4: 150,205,199 (GRCm39) E3* probably null Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sorbs2 A G 8: 46,249,254 (GRCm39) K755R probably benign Het
Sorbs3 G T 14: 70,424,394 (GRCm39) P513T probably damaging Het
Sowaha T A 11: 53,370,337 (GRCm39) E133V possibly damaging Het
Srsf5 T C 12: 80,994,075 (GRCm39) probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tcp11l1 T C 2: 104,512,130 (GRCm39) I501V probably benign Het
Tert A G 13: 73,796,508 (GRCm39) K1080E possibly damaging Het
Tescl T A 7: 24,033,323 (GRCm39) M1L possibly damaging Het
Thop1 T A 10: 80,909,201 (GRCm39) probably null Het
Tmtc4 T C 14: 123,210,618 (GRCm39) H80R probably damaging Het
Toe1 C T 4: 116,661,729 (GRCm39) S480N probably damaging Het
Trap1 C A 16: 3,863,352 (GRCm39) V557F probably benign Het
Trim30d T C 7: 104,132,564 (GRCm39) E91G probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttll8 C A 15: 88,798,368 (GRCm39) G789V probably damaging Het
Ulk4 A G 9: 121,087,798 (GRCm39) F298S probably benign Het
Wwc1 C T 11: 35,780,227 (GRCm39) A243T probably benign Het
Zfp248 A C 6: 118,406,787 (GRCm39) H267Q possibly damaging Het
Zfyve26 T A 12: 79,321,785 (GRCm39) M945L probably benign Het
Zup1 T C 10: 33,825,434 (GRCm39) D16G 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
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
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'- ATTTCCCACCCATAGAGGTGG -3'
(R):5'- TGACTGCCATCAACCCTGTC -3'

Sequencing Primer
(F):5'- CAGGGACAGGAAGGTTCTCTG -3'
(R):5'- GTCCTTCACACACACCTTCAGG -3'
Posted On 2016-04-15