Incidental Mutation 'R7790:Atr'
ID 599819
Institutional Source Beutler Lab
Gene Symbol Atr
Ensembl Gene ENSMUSG00000032409
Gene Name ataxia telangiectasia and Rad3 related
Synonyms
MMRRC Submission 045846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7790 (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 T at 95756233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 815 (D815V)
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: D815V

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 damaging
Transcript: ENSMUST00000215311
AA Change: D815V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,201 (GRCm39) I136F possibly damaging Het
Abca13 A T 11: 9,247,915 (GRCm39) K2554M probably damaging Het
Ankrd12 C T 17: 66,291,225 (GRCm39) D1403N possibly damaging Het
Ankrd17 A G 5: 90,408,011 (GRCm39) V1402A possibly damaging Het
Ankrd36 A T 11: 5,585,176 (GRCm39) N329I possibly damaging Het
C9orf72 T C 4: 35,192,997 (GRCm39) D444G unknown Het
Ceacam1 T C 7: 25,173,375 (GRCm39) Y271C probably damaging Het
Cenpo T C 12: 4,264,597 (GRCm39) H265R probably benign Het
Chd8 G A 14: 52,463,539 (GRCm39) R702W probably damaging Het
Ckap5 A G 2: 91,389,455 (GRCm39) N309S probably benign Het
Cxxc1 C T 18: 74,350,855 (GRCm39) R83C probably damaging Het
Dcaf6 T C 1: 165,227,284 (GRCm39) D281G probably damaging Het
Dennd4c A G 4: 86,717,754 (GRCm39) T584A probably damaging Het
Drgx T A 14: 32,350,845 (GRCm39) L227Q probably damaging Het
Dync2h1 G T 9: 7,114,914 (GRCm39) H2415N probably damaging Het
Dzip1l A G 9: 99,543,015 (GRCm39) E490G possibly damaging Het
Fam124a T C 14: 62,843,526 (GRCm39) S345P probably benign Het
Fam83b G A 9: 76,399,330 (GRCm39) T591I probably benign Het
Frem1 T C 4: 82,907,401 (GRCm39) S838G probably benign Het
Fsip2 G T 2: 82,818,723 (GRCm39) D4819Y probably benign Het
Gm43302 T G 5: 105,425,691 (GRCm39) K246T probably benign Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gpc1 A T 1: 92,781,171 (GRCm39) H90L probably benign Het
Grik3 T C 4: 125,579,812 (GRCm39) L519P probably damaging Het
Grwd1 A G 7: 45,475,438 (GRCm39) V368A probably damaging Het
Gstm3 G A 3: 107,876,555 (GRCm39) probably benign Het
Gtpbp6 A G 5: 110,252,252 (GRCm39) S427P probably damaging Het
Heatr5b C T 17: 79,126,252 (GRCm39) G560E probably damaging Het
Heatr9 A G 11: 83,409,019 (GRCm39) V176A probably damaging Het
Hsf2bp A G 17: 32,253,453 (GRCm39) V5A probably benign Het
Ints3 G T 3: 90,307,720 (GRCm39) Q660K probably benign Het
Itpr2 A T 6: 146,126,274 (GRCm39) L2048Q probably damaging Het
Kcnq1 G A 7: 142,660,342 (GRCm39) probably null Het
Lsm12 A T 11: 102,055,995 (GRCm39) probably null Het
Mcoln3 A G 3: 145,845,247 (GRCm39) Y481C probably damaging Het
Meis3 A G 7: 15,916,322 (GRCm39) N266D probably benign Het
Mgat5 G A 1: 127,339,941 (GRCm39) E441K probably benign Het
Mroh6 C T 15: 75,756,089 (GRCm39) R689H probably benign Het
Mtg1 T C 7: 139,729,662 (GRCm39) Y251H probably damaging Het
Mtus2 A T 5: 148,014,998 (GRCm39) Q597L probably benign Het
Myt1 A G 2: 181,439,390 (GRCm39) E346G probably benign Het
Nat8f4 A G 6: 85,877,873 (GRCm39) S217P probably benign Het
Ngf G A 3: 102,417,140 (GRCm39) G17R unknown Het
Or7e171-ps1 A T 9: 19,852,980 (GRCm39) M252K unknown Het
Pam T C 1: 97,749,572 (GRCm39) Y968C probably damaging Het
Pcdhga7 T A 18: 37,847,996 (GRCm39) M1K probably null Het
Pde8b G T 13: 95,170,679 (GRCm39) D554E probably benign Het
Pdzd7 G A 19: 45,033,962 (GRCm39) R41* probably null Het
Pkhd1l1 C T 15: 44,441,977 (GRCm39) P3639S probably damaging Het
Plce1 A T 19: 38,769,140 (GRCm39) E2280V probably damaging Het
Ryr1 T C 7: 28,804,257 (GRCm39) I538V probably benign Het
Scaf11 A G 15: 96,316,942 (GRCm39) L874P possibly damaging Het
Scpep1 G T 11: 88,824,347 (GRCm39) D307E possibly damaging Het
Septin4 A G 11: 87,480,065 (GRCm39) E327G probably damaging Het
Skint2 T G 4: 112,473,751 (GRCm39) V11G possibly damaging Het
Slc26a4 T C 12: 31,594,482 (GRCm39) N289D probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slx4 T C 16: 3,804,846 (GRCm39) E656G probably benign Het
Socs5 T C 17: 87,441,791 (GRCm39) S244P probably benign Het
Spata31h1 C T 10: 82,123,329 (GRCm39) C3227Y probably benign Het
Speer1e C A 5: 11,234,185 (GRCm39) H30Q probably benign Het
Stt3b A C 9: 115,105,887 (GRCm39) L196R probably damaging Het
Syne2 T A 12: 75,975,877 (GRCm39) probably null Het
Tab2 T A 10: 7,796,188 (GRCm39) N24I probably damaging Het
Taf4b T C 18: 14,946,331 (GRCm39) S385P probably damaging Het
Tg T C 15: 66,721,453 (GRCm39) Y2720H probably damaging Het
Tjap1 C T 17: 46,569,616 (GRCm39) G448E probably benign Het
Tll1 A T 8: 64,478,271 (GRCm39) C827* probably null Het
Tlr11 T A 14: 50,599,382 (GRCm39) I456K probably benign Het
Tmem209 T C 6: 30,497,854 (GRCm39) D305G probably damaging Het
Tmem82 A T 4: 141,345,035 (GRCm39) probably null Het
Tnfrsf14 A G 4: 155,007,750 (GRCm39) V207A probably benign Het
Tnks A T 8: 35,328,694 (GRCm39) N625K probably benign Het
Tomm20 G A 8: 127,666,700 (GRCm39) P58S possibly damaging Het
Ttc9b A G 7: 27,353,761 (GRCm39) D137G probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Usp9y T A Y: 1,444,573 (GRCm39) D122V probably damaging Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Wdr49 T A 3: 75,182,335 (GRCm39) N698I probably benign Het
Zfp568 G A 7: 29,722,150 (GRCm39) C365Y probably damaging Het
Zfp663 A T 2: 165,194,453 (GRCm39) C589S probably damaging Het
Zfp971 A G 2: 177,675,292 (GRCm39) K297R probably damaging Het
Zkscan16 G T 4: 58,951,843 (GRCm39) E173* probably null 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
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'- TTCATATATAAGGCAACGTGGAGTT -3'
(R):5'- CCTTGCTATTTGGGCATGAGTA -3'

Sequencing Primer
(F):5'- GCAGTATTTTATTTGCTGACAGTG -3'
(R):5'- GCTTCCTTCATTCTTAAGACAAAAAG -3'
Posted On 2019-11-26