Incidental Mutation 'R1935:Atg2a'
ID 215966
Institutional Source Beutler Lab
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Name autophagy related 2A
Synonyms 1810013C15Rik
MMRRC Submission 039953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R1935 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6291698-6312365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6302566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 963 (Y963C)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
AlphaFold Q6P4T0
Predicted Effect probably damaging
Transcript: ENSMUST00000045351
AA Change: Y963C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: Y963C

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 unknown
Transcript: ENSMUST00000145600
AA Change: Y764C
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: Y764C

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 0.6730 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 95% (95/100)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Abcg8 C T 17: 85,002,417 (GRCm39) probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atrn T C 2: 130,799,955 (GRCm39) V444A probably damaging Het
Avpr1a G A 10: 122,285,695 (GRCm39) probably null Het
Best3 A C 10: 116,860,291 (GRCm39) Q517P probably benign Het
C3 A G 17: 57,525,829 (GRCm39) L851P probably damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Carns1 T C 19: 4,215,473 (GRCm39) E903G probably damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cnot2 G C 10: 116,334,320 (GRCm39) P274R possibly damaging Het
Cops7a G A 6: 124,939,359 (GRCm39) R97* probably null Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dnah8 G A 17: 30,945,870 (GRCm39) probably benign Het
Dnah8 A G 17: 30,854,479 (GRCm39) E47G unknown Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
H2-Q1 A T 17: 35,542,469 (GRCm39) M305L probably benign Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Kbtbd4 T C 2: 90,737,895 (GRCm39) V215A probably damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Med19 A G 2: 84,516,002 (GRCm39) H177R possibly damaging Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Mpl A G 4: 118,312,936 (GRCm39) M132T probably benign Het
Mtcl1 G T 17: 66,686,409 (GRCm39) H480Q probably benign Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or14j7 T A 17: 38,234,993 (GRCm39) C179S probably damaging Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or4c11 A C 2: 88,695,524 (GRCm39) M192L probably benign Het
Or6c214 A G 10: 129,590,584 (GRCm39) V245A probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pom121 G A 5: 135,412,740 (GRCm39) R481C unknown Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Rtl1 A G 12: 109,558,354 (GRCm39) S1162P probably benign Het
Samd9l G T 6: 3,376,269 (GRCm39) Q331K probably benign Het
Sipa1l1 T C 12: 82,419,208 (GRCm39) Y629H probably damaging Het
Slc12a2 A T 18: 58,037,425 (GRCm39) I512L possibly damaging Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Snw1 T A 12: 87,506,247 (GRCm39) I218F probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Thra T A 11: 98,653,899 (GRCm39) probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmem50a A G 4: 134,630,953 (GRCm39) probably benign Het
Tmem63b A G 17: 45,989,887 (GRCm39) probably null Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trip12 T C 1: 84,771,822 (GRCm39) S109G possibly damaging Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Tubgcp4 A T 2: 121,009,147 (GRCm39) probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Zfp408 A T 2: 91,480,093 (GRCm39) M1K probably null Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
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'- GGTGCAAACCTCCAGTGATATC -3'
(R):5'- GGTAGCAGGTAGTCTTCAATGG -3'

Sequencing Primer
(F):5'- CCTCCAGTGATATCTGAAAGGAGC -3'
(R):5'- TCTTCAATGGCCGCTGAGAAG -3'
Posted On 2014-07-14