Incidental Mutation 'R1670:Atr'
ID 187559
Institutional Source Beutler Lab
Gene Symbol Atr
Ensembl Gene ENSMUSG00000032409
Gene Name ataxia telangiectasia and Rad3 related
Synonyms
MMRRC Submission 039706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1670 (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 95743509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 49 (N49K)
Ref Sequence ENSEMBL: ENSMUSP00000034980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034980
AA Change: N49K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: N49K

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: ENSMUST00000178038
SMART Domains Protein: ENSMUSP00000136667
Gene: ENSMUSG00000096655

DomainStartEndE-ValueType
low complexity region 42 64 N/A INTRINSIC
low complexity region 109 122 N/A INTRINSIC
low complexity region 146 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190890
Predicted Effect probably benign
Transcript: ENSMUST00000215311
AA Change: N49K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0834 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnaaf9 G A 2: 130,554,299 (GRCm39) P187S probably damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Ndnf A G 6: 65,680,054 (GRCm39) D111G probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or2t48 A T 11: 58,420,237 (GRCm39) S192T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pnisr A G 4: 21,865,893 (GRCm39) D294G probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ptprn2 A C 12: 116,685,792 (GRCm39) T84P possibly damaging Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V 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
R1605:Atr UTSW 9 95,818,516 (GRCm39) missense probably damaging 1.00
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'- TTATTGGGAGGGAGGGTCACACAC -3'
(R):5'- GTTCCTATGGCTGAGGGAAAAGGC -3'

Sequencing Primer
(F):5'- acttctcccctcccactatatc -3'
(R):5'- TGATAAAGCCCATATGATTGGACCC -3'
Posted On 2014-05-09