Incidental Mutation 'R9116:Atr'
ID 692548
Institutional Source Beutler Lab
Gene Symbol Atr
Ensembl Gene ENSMUSG00000032409
Gene Name ataxia telangiectasia and Rad3 related
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9116 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 95739650-95833834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95747851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 378 (I378V)
Ref Sequence ENSEMBL: ENSMUSP00000149953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: I378V

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 probably benign
Transcript: ENSMUST00000215311
AA Change: I378V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,973 (GRCm39) L689Q Het
Abcc2 G A 19: 43,793,391 (GRCm39) V348M probably benign Het
Abhd5 T C 9: 122,196,992 (GRCm39) S60P probably benign Het
Adamts10 C A 17: 33,756,330 (GRCm39) H324Q probably benign Het
Akap1 A G 11: 88,723,165 (GRCm39) L823P probably damaging Het
Aoc1 G A 6: 48,885,522 (GRCm39) V676I probably damaging Het
Arhgef12 T C 9: 42,893,241 (GRCm39) probably benign Het
Arl4d A C 11: 101,557,620 (GRCm39) S49R possibly damaging Het
Bicd1 G A 6: 149,385,674 (GRCm39) V136I probably benign Het
Brd1 A T 15: 88,585,374 (GRCm39) L820H possibly damaging Het
Cfap70 T C 14: 20,497,590 (GRCm39) T55A probably benign Het
Cog7 G T 7: 121,570,561 (GRCm39) N182K probably damaging Het
Col4a4 T A 1: 82,431,752 (GRCm39) T1511S unknown Het
Cr2 A T 1: 194,840,977 (GRCm39) Y438* probably null Het
Ctnnbl1 T A 2: 157,648,623 (GRCm39) V198E probably damaging Het
Fam117b C T 1: 60,018,456 (GRCm39) Q58* probably null Het
Fam171a2 A G 11: 102,330,519 (GRCm39) Y288H probably damaging Het
Fam186a A T 15: 99,840,472 (GRCm39) I1924K possibly damaging Het
Fancd2 A G 6: 113,532,180 (GRCm39) I498V probably benign Het
Fat3 T A 9: 15,909,421 (GRCm39) I2194F probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gbp9 T C 5: 105,231,695 (GRCm39) Y297C Het
Gck T G 11: 5,854,377 (GRCm39) N283H possibly damaging Het
Gm13941 A T 2: 110,935,146 (GRCm39) L28Q unknown Het
Gpr155 A G 2: 73,204,109 (GRCm39) I235T possibly damaging Het
Junb A C 8: 85,704,052 (GRCm39) L336R probably damaging Het
Krt14 A T 11: 100,095,904 (GRCm39) M218K probably benign Het
Leprotl1 A G 8: 34,604,967 (GRCm39) V102A probably benign Het
Lrrc8d T C 5: 105,961,908 (GRCm39) F773L probably damaging Het
Mad2l1bp G A 17: 46,458,958 (GRCm39) R191C probably damaging Het
Man1c1 C T 4: 134,311,705 (GRCm39) V274M possibly damaging Het
Mtor C A 4: 148,637,198 (GRCm39) P2466T probably benign Het
Mycbpap C A 11: 94,398,032 (GRCm39) probably benign Het
Myef2l G A 3: 10,153,593 (GRCm39) V121M probably damaging Het
Myo18b T C 5: 112,975,862 (GRCm39) E1329G probably damaging Het
Nipbl A T 15: 8,380,340 (GRCm39) D817E probably benign Het
Nthl1 C T 17: 24,853,753 (GRCm39) Q133* probably null Het
Nup133 A G 8: 124,660,155 (GRCm39) M381T probably benign Het
Or13c7 T C 4: 43,854,602 (GRCm39) C98R probably damaging Het
Or2j3 T C 17: 38,615,654 (GRCm39) T233A probably benign Het
Or51t4 T C 7: 102,598,527 (GRCm39) I285T possibly damaging Het
Or7e175 T C 9: 20,048,633 (GRCm39) Y74H probably damaging Het
Or7g20 T C 9: 18,946,773 (GRCm39) M118T probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pmpcb A T 5: 21,961,608 (GRCm39) I422F probably damaging Het
Prpf8 T A 11: 75,380,589 (GRCm39) H97Q possibly damaging Het
Psat1 A G 19: 15,898,332 (GRCm39) L30P probably damaging Het
Rag1 T C 2: 101,472,820 (GRCm39) D774G probably damaging Het
Rag1 C T 2: 101,475,137 (GRCm39) A2T probably benign Het
Rccd1 G T 7: 79,970,728 (GRCm39) F17L probably damaging Het
Rhobtb1 T A 10: 69,106,579 (GRCm39) D443E probably damaging Het
Rnf13 A G 3: 57,709,866 (GRCm39) probably null Het
Ryr2 A G 13: 11,587,185 (GRCm39) S4699P possibly damaging Het
Scart1 A G 7: 139,808,277 (GRCm39) T754A probably benign Het
Sdc3 T C 4: 130,546,352 (GRCm39) V237A probably benign Het
Serinc5 T A 13: 92,797,514 (GRCm39) probably benign Het
Sertad4 A G 1: 192,528,973 (GRCm39) I281T probably benign Het
Shroom1 T C 11: 53,354,490 (GRCm39) S137P probably damaging Het
Slurp1 C T 15: 74,599,450 (GRCm39) G20D probably damaging Het
Sncb T A 13: 54,910,512 (GRCm39) N75Y probably damaging Het
Spag8 C T 4: 43,653,231 (GRCm39) G77S unknown Het
Spink14 A T 18: 44,164,059 (GRCm39) I76F probably damaging Het
Srfbp1 A T 18: 52,623,102 (GRCm39) E372D possibly damaging Het
Synpo A T 18: 60,735,599 (GRCm39) N782K probably damaging Het
Syt7 T C 19: 10,421,373 (GRCm39) M519T probably damaging Het
Tlr5 C T 1: 182,802,160 (GRCm39) P488L probably benign Het
Tmod3 A T 9: 75,412,202 (GRCm39) I315N probably damaging Het
Ttc12 T C 9: 49,364,757 (GRCm39) M340V probably benign Het
Ttn T A 2: 76,710,959 (GRCm39) I8392F unknown Het
Ttn A G 2: 76,769,232 (GRCm39) V2822A unknown Het
Ube3b C T 5: 114,542,837 (GRCm39) probably benign Het
Ubr4 C A 4: 139,145,785 (GRCm39) N238K Het
Vmn2r12 T C 5: 109,233,885 (GRCm39) T776A probably damaging Het
Vps50 G A 6: 3,588,091 (GRCm39) probably benign Het
Vwa3a A G 7: 120,366,470 (GRCm39) D165G Het
Wdr17 T A 8: 55,114,605 (GRCm39) H644L probably damaging Het
Zfp628 T C 7: 4,924,202 (GRCm39) V808A probably benign Het
Zscan21 T A 5: 138,123,937 (GRCm39) D205E probably damaging 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
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
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'- AAAACGCTCTTTCCCTTTGAAGC -3'
(R):5'- TGAAAATGATCATGCCCTTGAC -3'

Sequencing Primer
(F):5'- TTCCCTTTGAAGCAGAGGC -3'
(R):5'- GCCCTTGACATGCCATTATTGTAAG -3'
Posted On 2021-12-30