Incidental Mutation 'R5985:Atg2a'
ID 501952
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 044165-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R5985 (G1)
Quality Score 52.0072
Status Validated
Chromosome 19
Chromosomal Location 6291698-6312365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6304667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1175 (T1175A)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
AlphaFold Q6P4T0
Predicted Effect probably damaging
Transcript: ENSMUST00000045351
AA Change: T1175A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: T1175A

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: T976A
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: T976A

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 0.1476 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,241,628 (GRCm39) I1164L probably benign Het
Actn1 C A 12: 80,215,169 (GRCm39) G864V probably damaging Het
Adgrf1 T C 17: 43,604,146 (GRCm39) I34T probably benign Het
Ankrd10 T A 8: 11,669,077 (GRCm39) K225* probably null Het
Ankrd29 G A 18: 12,412,832 (GRCm39) A115V probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atp12a A G 14: 56,621,798 (GRCm39) D781G probably damaging Het
B4galnt3 G A 6: 120,187,119 (GRCm39) P759S probably damaging Het
Card10 T C 15: 78,675,411 (GRCm39) I448V probably benign Het
Col15a1 T C 4: 47,284,507 (GRCm39) F821L probably damaging Het
Cpeb3 T C 19: 37,064,952 (GRCm39) Y498C probably damaging Het
Defb37 A T 8: 19,036,347 (GRCm39) C58S probably damaging Het
Faap20 T C 4: 155,334,797 (GRCm39) probably benign Het
Frem1 C T 4: 82,884,287 (GRCm39) V1204I probably benign Het
Gal3st2 T C 1: 93,801,335 (GRCm39) V46A possibly damaging Het
Gan C T 8: 117,922,557 (GRCm39) S430L possibly damaging Het
Gas2 T A 7: 51,593,424 (GRCm39) I168K probably damaging Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gm3898 G A 9: 43,741,329 (GRCm39) noncoding transcript Het
Gria4 T C 9: 4,503,593 (GRCm39) Q341R probably damaging Het
Herpud1 G A 8: 95,117,422 (GRCm39) R2Q probably damaging Het
Klf15 G A 6: 90,443,703 (GRCm39) G93R possibly damaging Het
Mtmr7 A G 8: 41,004,873 (GRCm39) F568L probably benign Het
Myod1 A G 7: 46,027,222 (GRCm39) Y229C probably damaging Het
Or12e14 A G 2: 87,187,949 (GRCm39) I54V probably benign Het
Or5l13 A G 2: 87,779,665 (GRCm39) M304T probably benign Het
Phf11b A G 14: 59,559,027 (GRCm39) L235P possibly damaging Het
Pira1 C A 7: 3,740,316 (GRCm39) G302C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Prox1 A T 1: 189,879,152 (GRCm39) F675L possibly damaging Het
Rnf144a C T 12: 26,367,779 (GRCm39) E176K probably benign Het
Safb2 T C 17: 56,870,181 (GRCm39) E965G possibly damaging Het
Sik3 A G 9: 46,122,973 (GRCm39) N874S probably damaging Het
Slitrk3 T C 3: 72,958,233 (GRCm39) I180V probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Spns1 G A 7: 125,975,902 (GRCm39) T84I probably benign Het
Syne2 C G 12: 76,012,933 (GRCm39) P2709R probably damaging Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Terb1 A G 8: 105,208,948 (GRCm39) S377P probably damaging Het
Tph1 A G 7: 46,303,205 (GRCm39) Y258H probably damaging Het
Trip12 T A 1: 84,703,492 (GRCm39) E1881D probably damaging Het
Trpc7 A G 13: 56,958,358 (GRCm39) L412P probably damaging Het
Ttll13 C T 7: 79,904,386 (GRCm39) A337V probably damaging Het
Ugt2b1 T C 5: 87,067,527 (GRCm39) K344E possibly damaging Het
Vmn1r36 T A 6: 66,693,855 (GRCm39) I7F probably benign Het
Vmn2r14 A T 5: 109,368,082 (GRCm39) N303K possibly damaging Het
Vmn2r25 A G 6: 123,800,587 (GRCm39) V585A probably benign Het
Zan A C 5: 137,444,299 (GRCm39) probably null Het
Zfp423 A T 8: 88,508,774 (GRCm39) N502K possibly damaging Het
Zfp473 C T 7: 44,382,752 (GRCm39) R526Q 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
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
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'- ACACTGAGGGTATCACGCAG -3'
(R):5'- TCCAGACTGATGGAGTACGG -3'

Sequencing Primer
(F):5'- GGCCTGCTCTCATACACATACATG -3'
(R):5'- ACTGATGGAGTACGGCTCAC -3'
Posted On 2018-01-26