Incidental Mutation 'R0483:Atg2a'
ID 42164
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 038683-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R0483 (G1)
Quality Score 176
Status Validated
Chromosome 19
Chromosomal Location 6291698-6312365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6306631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 1439 (G1439C)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
AlphaFold Q6P4T0
Predicted Effect probably damaging
Transcript: ENSMUST00000045351
AA Change: G1439C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: G1439C

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 noncoding transcript
Transcript: ENSMUST00000143053
Predicted Effect unknown
Transcript: ENSMUST00000145600
AA Change: G1242C
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: G1242C

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 0.1001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 99% (89/90)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik G A 10: 83,595,502 (GRCm39) probably benign Het
1700048O20Rik A T 9: 121,769,769 (GRCm39) noncoding transcript Het
AA986860 A G 1: 130,671,562 (GRCm39) R595G probably damaging Het
Acrbp C A 6: 125,031,759 (GRCm39) F353L possibly damaging Het
Adamts20 T A 15: 94,251,452 (GRCm39) Q445L probably benign Het
Adgrg5 A G 8: 95,660,136 (GRCm39) D26G possibly damaging Het
Atad2b A T 12: 4,995,035 (GRCm39) probably benign Het
B3galt1 G A 2: 67,948,932 (GRCm39) V216I probably benign Het
Bmerb1 T C 16: 13,913,803 (GRCm39) *113R probably null Het
C2cd2 A G 16: 97,660,788 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,564,025 (GRCm39) V884M probably damaging Het
Cers5 C A 15: 99,643,795 (GRCm39) C22F probably damaging Het
Ces1d C A 8: 93,924,307 (GRCm39) C14F probably benign Het
Cntn3 G T 6: 102,180,927 (GRCm39) P756Q probably damaging Het
Col4a1 T C 8: 11,286,423 (GRCm39) probably benign Het
Col5a3 A G 9: 20,693,777 (GRCm39) probably null Het
Cox5b G A 1: 36,731,636 (GRCm39) probably null Het
Cwc27 C A 13: 104,947,724 (GRCm39) probably null Het
Cyp27b1 A C 10: 126,886,026 (GRCm39) M260L probably benign Het
Ddx19b A T 8: 111,735,310 (GRCm39) N465K probably benign Het
Depdc1b T C 13: 108,510,382 (GRCm39) V298A probably benign Het
Dnaaf1 A G 8: 120,317,405 (GRCm39) I311M possibly damaging Het
Dnah17 T C 11: 117,937,950 (GRCm39) N3372S probably benign Het
Dus4l G A 12: 31,691,656 (GRCm39) T184I possibly damaging Het
Dzip3 T C 16: 48,768,076 (GRCm39) K453E possibly damaging Het
Fhod3 C T 18: 24,842,673 (GRCm39) T3M probably damaging Het
Galnt10 T C 11: 57,672,048 (GRCm39) L446P probably damaging Het
Gfod1 T A 13: 43,354,012 (GRCm39) D321V possibly damaging Het
Glt8d2 C A 10: 82,497,987 (GRCm39) probably benign Het
Gm11115 A G 5: 88,301,948 (GRCm39) M4T unknown Het
Gm11568 G A 11: 99,749,209 (GRCm39) C138Y unknown Het
Gm57859 C T 11: 113,580,021 (GRCm39) T472I possibly damaging Het
Gm9742 A G 13: 8,085,052 (GRCm39) noncoding transcript Het
Gnrhr G T 5: 86,345,434 (GRCm39) T84N probably damaging Het
Gpr176 C A 2: 118,110,204 (GRCm39) G352W probably damaging Het
Habp2 T C 19: 56,304,864 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Inpp5j C G 11: 3,449,738 (GRCm39) W681C probably damaging Het
Insl6 A G 19: 29,298,968 (GRCm39) M148T probably benign Het
Itgb1 T G 8: 129,452,648 (GRCm39) M771R possibly damaging Het
Kank1 G T 19: 25,403,357 (GRCm39) probably benign Het
Kcnd3 T C 3: 105,366,942 (GRCm39) Y271H probably damaging Het
Kcnq4 C A 4: 120,573,798 (GRCm39) R221L probably damaging Het
Klk1b26 G A 7: 43,665,772 (GRCm39) V195I probably benign Het
Lactb A C 9: 66,878,145 (GRCm39) V228G possibly damaging Het
Ldb3 T C 14: 34,258,541 (GRCm39) D649G probably damaging Het
Lilra6 T A 7: 3,916,138 (GRCm39) R240S probably benign Het
Lrp2 A G 2: 69,338,145 (GRCm39) Y1212H probably damaging Het
Mapk8ip1 A T 2: 92,216,321 (GRCm39) probably null Het
Mctp1 C T 13: 76,975,846 (GRCm39) L483F probably damaging Het
Mmp16 T C 4: 18,115,878 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,445,033 (GRCm39) L360* probably null Het
Myh4 A G 11: 67,143,123 (GRCm39) E1017G probably damaging Het
Nell1 A T 7: 49,879,928 (GRCm39) M307L probably benign Het
Or10al3 C T 17: 38,012,188 (GRCm39) A209V probably benign Het
Or10d1 A C 9: 39,484,139 (GRCm39) C139G probably damaging Het
Or5m11 A G 2: 85,781,587 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,752 (GRCm39) V140A probably benign Het
Phc2 A G 4: 128,617,100 (GRCm39) probably benign Het
Pp2d1 C A 17: 53,814,999 (GRCm39) C575F probably benign Het
Ptpra T A 2: 130,381,605 (GRCm39) N364K probably damaging Het
R3hcc1l A G 19: 42,550,995 (GRCm39) probably benign Het
Rims1 A G 1: 22,507,263 (GRCm39) probably benign Het
Shank3 G A 15: 89,427,442 (GRCm39) probably benign Het
Sit1 T A 4: 43,482,991 (GRCm39) Q86L possibly damaging Het
Skint4 C A 4: 111,975,136 (GRCm39) probably benign Het
Skint8 G T 4: 111,796,020 (GRCm39) probably benign Het
Smim13 T C 13: 41,426,186 (GRCm39) I74T probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Spmap2l A G 5: 77,185,204 (GRCm39) probably benign Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Synpo2 T C 3: 122,907,981 (GRCm39) D445G probably damaging Het
Tas2r102 A T 6: 132,739,328 (GRCm39) I79F probably damaging Het
Tmc4 A G 7: 3,670,609 (GRCm39) L494P probably damaging Het
Togaram1 G T 12: 65,053,805 (GRCm39) V1412F probably damaging Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trappc8 T A 18: 20,978,658 (GRCm39) I813F possibly damaging Het
Trim26 T C 17: 37,163,598 (GRCm39) probably benign Het
Unc13a T C 8: 72,097,557 (GRCm39) D1171G probably damaging Het
Usp7 A G 16: 8,517,126 (GRCm39) V245A probably damaging Het
Vmn1r38 T A 6: 66,753,979 (GRCm39) T46S probably benign Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zcchc14 T A 8: 122,355,388 (GRCm39) probably benign Het
Zfp451 T A 1: 33,809,991 (GRCm39) probably benign 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
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
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'- TAGAGACTTTGGCCTTCACCCCAC -3'
(R):5'- TGGAATCTGTCCTCAGCATACCCC -3'

Sequencing Primer
(F):5'- CCCACTTACAGGTTAGAGGC -3'
(R):5'- GCATACCCCACTGCCCG -3'
Posted On 2013-05-23