Incidental Mutation 'R1605:Atr'
ID 176413
Institutional Source Beutler Lab
Gene Symbol Atr
Ensembl Gene ENSMUSG00000032409
Gene Name ataxia telangiectasia and Rad3 related
Synonyms
MMRRC Submission 039642-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1605 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 95739650-95833834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95818516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 2163 (I2163K)
Ref Sequence ENSEMBL: ENSMUSP00000149953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034980
AA Change: I2157K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: I2157K

DomainStartEndE-ValueType
low complexity region 431 449 N/A INTRINSIC
low complexity region 889 897 N/A INTRINSIC
low complexity region 998 1013 N/A INTRINSIC
UME 1119 1225 2.3e-43 SMART
low complexity region 1352 1362 N/A INTRINSIC
Pfam:FAT 1771 2092 9.2e-51 PFAM
PI3Kc 2320 2630 7.51e-124 SMART
FATC 2609 2641 6.22e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188088
Predicted Effect probably damaging
Transcript: ENSMUST00000215311
AA Change: I2163K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7157 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,506,104 (GRCm39) K211E probably damaging Het
Acot7 A G 4: 152,291,285 (GRCm39) I84V possibly damaging Het
Ankrd44 A G 1: 54,867,781 (GRCm39) V34A probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Azgp1 A T 5: 137,983,426 (GRCm39) R34* probably null Het
Ccdc152 T G 15: 3,327,603 (GRCm39) K58T probably damaging Het
Ccdc88b T A 19: 6,827,837 (GRCm39) Q912L probably benign Het
Cdc42ep5 T A 7: 4,154,395 (GRCm39) H131L probably benign Het
Chd7 G A 4: 8,844,675 (GRCm39) E1595K probably damaging Het
Col11a1 G A 3: 113,925,290 (GRCm39) G41D probably damaging Het
Cyp2b23 C T 7: 26,385,843 (GRCm39) V5I probably benign Het
D430041D05Rik A G 2: 104,085,915 (GRCm39) V22A possibly damaging Het
Ddi1 T C 9: 6,266,012 (GRCm39) Y119C probably benign Het
Dysf T C 6: 84,083,923 (GRCm39) L785P probably damaging Het
Eqtn T A 4: 94,816,587 (GRCm39) T69S possibly damaging Het
F11 T A 8: 45,694,617 (GRCm39) K581N probably damaging Het
Gli2 G A 1: 118,782,290 (GRCm39) P172S probably damaging Het
Gm7579 G T 7: 141,765,603 (GRCm39) C3F unknown Het
Grin2a A G 16: 9,481,194 (GRCm39) V501A possibly damaging Het
Grk4 G A 5: 34,831,901 (GRCm39) D57N probably damaging Het
Gsdma A T 11: 98,557,319 (GRCm39) D86V probably damaging Het
Gsx1 A G 5: 147,126,738 (GRCm39) E187G probably damaging Het
Hdac1-ps A G 17: 78,799,537 (GRCm39) D176G probably damaging Het
Inpp5k T A 11: 75,524,307 (GRCm39) F75L probably benign Het
Itpr1 T C 6: 108,326,620 (GRCm39) V114A possibly damaging Het
Izumo3 A T 4: 92,032,977 (GRCm39) C130S probably damaging Het
Mei4 G A 9: 81,809,639 (GRCm39) E241K possibly damaging Het
Mocs2 T C 13: 114,961,120 (GRCm39) V39A probably benign Het
Mroh2b G A 15: 4,974,572 (GRCm39) R1184H probably benign Het
Msh3 T C 13: 92,436,783 (GRCm39) Q509R probably null Het
Myh8 T C 11: 67,192,497 (GRCm39) W1459R probably damaging Het
Mypop T A 7: 18,734,918 (GRCm39) probably benign Het
Ndc1 C A 4: 107,225,293 (GRCm39) T3K probably damaging Het
Nf1 A C 11: 79,331,749 (GRCm39) M695L probably benign Het
Nup50l A G 6: 96,141,793 (GRCm39) M417T probably benign Het
Nutm2 C A 13: 50,623,955 (GRCm39) D217E possibly damaging Het
Or52a20 T C 7: 103,365,858 (GRCm39) I19T probably damaging Het
Or5b122 A G 19: 13,562,994 (GRCm39) T109A probably benign Het
Pde6c C A 19: 38,129,940 (GRCm39) D283E probably damaging Het
Phldb2 A G 16: 45,591,142 (GRCm39) probably benign Het
Pigt G C 2: 164,349,419 (GRCm39) R574P probably damaging Het
Pkd1 T C 17: 24,796,500 (GRCm39) I2354T possibly damaging Het
Prdm15 T C 16: 97,640,506 (GRCm39) E27G probably damaging Het
Ptpn14 A G 1: 189,597,709 (GRCm39) I1140V probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rfx7 T C 9: 72,519,071 (GRCm39) S258P probably damaging Het
Rnf17 G T 14: 56,730,822 (GRCm39) G1209C probably damaging Het
S1pr4 C T 10: 81,335,225 (GRCm39) probably null Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpinb1b T A 13: 33,277,646 (GRCm39) V293E possibly damaging Het
Serpinb9b T C 13: 33,222,112 (GRCm39) probably null Het
Sez6l A C 5: 112,622,915 (GRCm39) I212S probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag9 G A 11: 93,939,365 (GRCm39) R98H probably damaging Het
Spata31e2 A T 1: 26,723,511 (GRCm39) H556Q possibly damaging Het
St3gal5 T C 6: 72,119,272 (GRCm39) L128P probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Stxbp5l A G 16: 37,028,473 (GRCm39) V530A probably benign Het
Tatdn1 A G 15: 58,793,039 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,430,206 (GRCm39) S466P probably benign Het
Tmem199 A T 11: 78,399,152 (GRCm39) M175K possibly damaging Het
Trmt12 A G 15: 58,744,764 (GRCm39) E54G probably benign Het
Usp37 G T 1: 74,532,163 (GRCm39) Q77K possibly damaging Het
Vezf1 A G 11: 87,967,125 (GRCm39) I301V possibly damaging Het
Vmn1r34 T G 6: 66,613,932 (GRCm39) M269L probably benign Het
Wdr93 C A 7: 79,421,257 (GRCm39) probably null Het
Wnk2 T C 13: 49,214,370 (GRCm39) D644G probably damaging Het
Zc3h13 C T 14: 75,574,923 (GRCm39) R1591* probably null Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp180 T A 7: 23,804,049 (GRCm39) V156D probably benign Het
Zfp646 G T 7: 127,479,359 (GRCm39) probably null Het
Zscan12 C A 13: 21,550,813 (GRCm39) T144K probably benign Het
Other mutations in Atr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Atr APN 9 95,747,105 (GRCm39) missense probably damaging 1.00
IGL00922:Atr APN 9 95,789,398 (GRCm39) missense probably damaging 0.97
IGL01020:Atr APN 9 95,744,836 (GRCm39) missense probably damaging 1.00
IGL01345:Atr APN 9 95,823,002 (GRCm39) missense probably damaging 1.00
IGL01364:Atr APN 9 95,747,677 (GRCm39) missense probably benign 0.29
IGL01456:Atr APN 9 95,832,618 (GRCm39) missense possibly damaging 0.62
IGL01534:Atr APN 9 95,747,599 (GRCm39) missense probably damaging 0.99
IGL01761:Atr APN 9 95,833,501 (GRCm39) splice site probably benign
IGL01791:Atr APN 9 95,803,834 (GRCm39) missense probably benign 0.05
IGL01831:Atr APN 9 95,752,807 (GRCm39) missense probably benign 0.18
IGL01973:Atr APN 9 95,753,727 (GRCm39) missense probably damaging 1.00
IGL02008:Atr APN 9 95,763,473 (GRCm39) splice site probably benign
IGL02016:Atr APN 9 95,809,228 (GRCm39) missense probably benign 0.09
IGL02035:Atr APN 9 95,748,735 (GRCm39) missense probably benign 0.01
IGL02058:Atr APN 9 95,753,540 (GRCm39) missense probably damaging 0.99
IGL02081:Atr APN 9 95,765,258 (GRCm39) missense probably damaging 1.00
IGL02224:Atr APN 9 95,760,682 (GRCm39) missense probably damaging 0.98
IGL02234:Atr APN 9 95,829,303 (GRCm39) splice site probably benign
IGL02367:Atr APN 9 95,781,194 (GRCm39) nonsense probably null
IGL02621:Atr APN 9 95,790,453 (GRCm39) missense probably benign 0.00
IGL02728:Atr APN 9 95,818,528 (GRCm39) missense probably damaging 1.00
IGL02833:Atr APN 9 95,744,905 (GRCm39) missense probably damaging 1.00
IGL02939:Atr APN 9 95,747,314 (GRCm39) missense probably benign
IGL03107:Atr APN 9 95,779,783 (GRCm39) missense probably benign 0.28
IGL03382:Atr APN 9 95,802,875 (GRCm39) nonsense probably null
PIT4812001:Atr UTSW 9 95,792,702 (GRCm39) missense probably benign 0.41
R0042:Atr UTSW 9 95,809,409 (GRCm39) splice site probably benign
R0042:Atr UTSW 9 95,809,409 (GRCm39) splice site probably benign
R0281:Atr UTSW 9 95,819,619 (GRCm39) missense probably benign 0.26
R0282:Atr UTSW 9 95,744,851 (GRCm39) missense probably benign 0.12
R0512:Atr UTSW 9 95,817,579 (GRCm39) missense probably damaging 0.99
R0547:Atr UTSW 9 95,781,218 (GRCm39) splice site probably benign
R0567:Atr UTSW 9 95,747,882 (GRCm39) missense probably benign 0.00
R0631:Atr UTSW 9 95,756,830 (GRCm39) missense possibly damaging 0.92
R1116:Atr UTSW 9 95,749,689 (GRCm39) nonsense probably null
R1171:Atr UTSW 9 95,789,376 (GRCm39) missense probably damaging 1.00
R1241:Atr UTSW 9 95,832,689 (GRCm39) missense probably benign 0.08
R1345:Atr UTSW 9 95,802,408 (GRCm39) missense probably benign 0.25
R1400:Atr UTSW 9 95,744,901 (GRCm39) missense probably benign 0.32
R1413:Atr UTSW 9 95,814,495 (GRCm39) missense probably damaging 1.00
R1527:Atr UTSW 9 95,752,096 (GRCm39) missense possibly damaging 0.82
R1557:Atr UTSW 9 95,753,502 (GRCm39) missense probably damaging 1.00
R1591:Atr UTSW 9 95,827,438 (GRCm39) missense probably damaging 1.00
R1602:Atr UTSW 9 95,833,610 (GRCm39) missense probably damaging 1.00
R1670:Atr UTSW 9 95,743,509 (GRCm39) missense probably benign 0.38
R1709:Atr UTSW 9 95,753,129 (GRCm39) missense probably benign 0.00
R1728:Atr UTSW 9 95,779,634 (GRCm39) missense probably benign 0.01
R1729:Atr UTSW 9 95,779,634 (GRCm39) missense probably benign 0.01
R1739:Atr UTSW 9 95,779,634 (GRCm39) missense probably benign 0.01
R1816:Atr UTSW 9 95,748,747 (GRCm39) missense probably benign 0.00
R1824:Atr UTSW 9 95,818,474 (GRCm39) missense probably damaging 1.00
R1844:Atr UTSW 9 95,787,870 (GRCm39) missense probably benign 0.01
R1857:Atr UTSW 9 95,747,150 (GRCm39) missense probably damaging 1.00
R1858:Atr UTSW 9 95,747,150 (GRCm39) missense probably damaging 1.00
R1866:Atr UTSW 9 95,752,658 (GRCm39) splice site probably null
R1913:Atr UTSW 9 95,748,786 (GRCm39) missense probably benign 0.01
R2042:Atr UTSW 9 95,752,075 (GRCm39) missense probably benign 0.00
R2210:Atr UTSW 9 95,789,353 (GRCm39) missense probably damaging 1.00
R2230:Atr UTSW 9 95,802,818 (GRCm39) missense probably damaging 1.00
R2361:Atr UTSW 9 95,753,210 (GRCm39) missense probably benign 0.41
R2399:Atr UTSW 9 95,753,652 (GRCm39) missense probably benign 0.00
R2431:Atr UTSW 9 95,744,945 (GRCm39) missense probably benign 0.24
R2860:Atr UTSW 9 95,756,296 (GRCm39) missense probably benign 0.07
R2861:Atr UTSW 9 95,756,296 (GRCm39) missense probably benign 0.07
R3019:Atr UTSW 9 95,787,871 (GRCm39) missense possibly damaging 0.52
R3684:Atr UTSW 9 95,802,453 (GRCm39) missense probably damaging 0.96
R4155:Atr UTSW 9 95,770,177 (GRCm39) nonsense probably null
R4295:Atr UTSW 9 95,756,479 (GRCm39) missense probably benign 0.04
R4359:Atr UTSW 9 95,833,589 (GRCm39) missense probably damaging 1.00
R4506:Atr UTSW 9 95,747,290 (GRCm39) missense probably benign 0.21
R4523:Atr UTSW 9 95,744,916 (GRCm39) missense probably damaging 1.00
R4536:Atr UTSW 9 95,756,471 (GRCm39) missense probably benign 0.26
R4588:Atr UTSW 9 95,747,720 (GRCm39) missense probably benign
R4646:Atr UTSW 9 95,753,250 (GRCm39) critical splice donor site probably null
R4702:Atr UTSW 9 95,802,408 (GRCm39) missense possibly damaging 0.92
R4743:Atr UTSW 9 95,744,845 (GRCm39) missense probably benign 0.14
R4782:Atr UTSW 9 95,744,850 (GRCm39) missense probably benign 0.00
R4928:Atr UTSW 9 95,789,352 (GRCm39) missense probably damaging 1.00
R5031:Atr UTSW 9 95,747,755 (GRCm39) missense probably damaging 0.98
R5138:Atr UTSW 9 95,819,649 (GRCm39) missense probably benign 0.15
R5188:Atr UTSW 9 95,803,778 (GRCm39) missense probably benign 0.00
R5219:Atr UTSW 9 95,763,291 (GRCm39) missense probably damaging 0.99
R5307:Atr UTSW 9 95,760,597 (GRCm39) missense probably benign 0.01
R5414:Atr UTSW 9 95,752,757 (GRCm39) missense probably benign 0.00
R5628:Atr UTSW 9 95,756,279 (GRCm39) nonsense probably null
R5664:Atr UTSW 9 95,787,866 (GRCm39) missense probably benign 0.00
R5678:Atr UTSW 9 95,833,540 (GRCm39) nonsense probably null
R5724:Atr UTSW 9 95,748,641 (GRCm39) missense probably damaging 1.00
R5759:Atr UTSW 9 95,756,455 (GRCm39) missense probably benign 0.01
R5763:Atr UTSW 9 95,827,176 (GRCm39) missense probably benign 0.04
R5922:Atr UTSW 9 95,785,735 (GRCm39) missense probably benign 0.00
R6051:Atr UTSW 9 95,790,422 (GRCm39) missense possibly damaging 0.85
R6161:Atr UTSW 9 95,747,372 (GRCm39) missense probably benign
R6171:Atr UTSW 9 95,763,324 (GRCm39) nonsense probably null
R6532:Atr UTSW 9 95,790,461 (GRCm39) missense probably benign
R6774:Atr UTSW 9 95,809,266 (GRCm39) missense probably benign 0.00
R6894:Atr UTSW 9 95,809,250 (GRCm39) missense probably damaging 1.00
R6930:Atr UTSW 9 95,748,688 (GRCm39) missense probably benign 0.21
R7018:Atr UTSW 9 95,748,747 (GRCm39) missense probably benign 0.17
R7056:Atr UTSW 9 95,744,916 (GRCm39) missense probably damaging 1.00
R7103:Atr UTSW 9 95,747,425 (GRCm39) missense probably damaging 0.98
R7154:Atr UTSW 9 95,747,098 (GRCm39) missense probably benign
R7157:Atr UTSW 9 95,751,953 (GRCm39) missense probably benign 0.00
R7188:Atr UTSW 9 95,744,844 (GRCm39) nonsense probably null
R7189:Atr UTSW 9 95,744,844 (GRCm39) nonsense probably null
R7300:Atr UTSW 9 95,747,423 (GRCm39) missense probably benign 0.00
R7337:Atr UTSW 9 95,753,501 (GRCm39) missense probably damaging 1.00
R7584:Atr UTSW 9 95,824,766 (GRCm39) missense probably damaging 1.00
R7602:Atr UTSW 9 95,789,436 (GRCm39) missense possibly damaging 0.64
R7633:Atr UTSW 9 95,829,171 (GRCm39) missense probably damaging 1.00
R7640:Atr UTSW 9 95,789,346 (GRCm39) splice site probably null
R7677:Atr UTSW 9 95,767,515 (GRCm39) missense probably damaging 1.00
R7699:Atr UTSW 9 95,757,743 (GRCm39) nonsense probably null
R7700:Atr UTSW 9 95,757,743 (GRCm39) nonsense probably null
R7790:Atr UTSW 9 95,756,233 (GRCm39) missense probably damaging 1.00
R8027:Atr UTSW 9 95,747,809 (GRCm39) missense probably damaging 0.99
R8147:Atr UTSW 9 95,781,113 (GRCm39) missense probably damaging 1.00
R8204:Atr UTSW 9 95,817,566 (GRCm39) missense
R8306:Atr UTSW 9 95,802,423 (GRCm39) missense
R8462:Atr UTSW 9 95,749,579 (GRCm39) missense probably benign
R8716:Atr UTSW 9 95,789,468 (GRCm39) missense probably benign 0.09
R8748:Atr UTSW 9 95,814,476 (GRCm39) missense probably benign 0.00
R8795:Atr UTSW 9 95,749,584 (GRCm39) missense probably damaging 1.00
R8891:Atr UTSW 9 95,787,813 (GRCm39) missense probably benign 0.03
R8976:Atr UTSW 9 95,772,819 (GRCm39) missense probably benign 0.00
R9024:Atr UTSW 9 95,789,416 (GRCm39) missense possibly damaging 0.93
R9116:Atr UTSW 9 95,747,851 (GRCm39) missense probably benign 0.00
R9523:Atr UTSW 9 95,792,610 (GRCm39) missense possibly damaging 0.89
R9524:Atr UTSW 9 95,792,610 (GRCm39) missense possibly damaging 0.89
R9525:Atr UTSW 9 95,792,610 (GRCm39) missense possibly damaging 0.89
R9527:Atr UTSW 9 95,767,429 (GRCm39) missense probably damaging 1.00
R9563:Atr UTSW 9 95,802,833 (GRCm39) missense probably damaging 0.98
R9629:Atr UTSW 9 95,747,098 (GRCm39) missense probably benign
R9642:Atr UTSW 9 95,821,294 (GRCm39) missense probably damaging 1.00
R9652:Atr UTSW 9 95,756,887 (GRCm39) missense probably damaging 1.00
R9660:Atr UTSW 9 95,797,050 (GRCm39) missense probably benign 0.40
R9678:Atr UTSW 9 95,792,610 (GRCm39) missense possibly damaging 0.89
R9728:Atr UTSW 9 95,797,050 (GRCm39) missense probably benign 0.40
R9731:Atr UTSW 9 95,747,092 (GRCm39) missense possibly damaging 0.52
R9732:Atr UTSW 9 95,743,438 (GRCm39) missense probably damaging 1.00
R9749:Atr UTSW 9 95,819,703 (GRCm39) critical splice donor site probably null
X0019:Atr UTSW 9 95,822,924 (GRCm39) missense probably damaging 1.00
Z1088:Atr UTSW 9 95,767,373 (GRCm39) splice site probably null
Z1177:Atr UTSW 9 95,770,153 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGTCGTTCTGATCGTCTGCAAATG -3'
(R):5'- AGGACAGCACCAAGCGTTCAAGTC -3'

Sequencing Primer
(F):5'- CTGATCGTCTGCAAATGAGAAATG -3'
(R):5'- CACCAAGCGTTCAAGTCTTTAATC -3'
Posted On 2014-04-24