Incidental Mutation 'R9749:Atr'
ID 732420
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 # R9749 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 95739650-95833834 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 95819703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034980
SMART Domains Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409

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 null
Transcript: ENSMUST00000215311
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,080,521 (GRCm39) I382F possibly damaging Het
Adamtsl3 A G 7: 82,099,394 (GRCm39) S183G probably benign Het
Adamtsl4 T C 3: 95,591,457 (GRCm39) H170R probably benign Het
Adcy2 T C 13: 68,773,974 (GRCm39) D1023G probably damaging Het
Agrn C A 4: 156,258,114 (GRCm39) V1083F probably benign Het
Arhgap21 T C 2: 20,854,026 (GRCm39) T1789A probably benign Het
Bcl2l13 T C 6: 120,842,633 (GRCm39) S109P possibly damaging Het
Bik A T 15: 83,425,540 (GRCm39) T14S possibly damaging Het
Car7 A G 8: 105,275,054 (GRCm39) D164G probably damaging Het
Cat T A 2: 103,285,445 (GRCm39) K499M probably benign Het
Ccar2 T A 14: 70,388,728 (GRCm39) Q161L probably benign Het
Cd109 T G 9: 78,592,166 (GRCm39) V760G probably damaging Het
Cep350 A T 1: 155,828,985 (GRCm39) H246Q probably benign Het
Cfap91 A G 16: 38,128,487 (GRCm39) I496T probably damaging Het
Chst13 T C 6: 90,295,251 (GRCm39) D54G probably damaging Het
Cilk1 T A 9: 78,060,999 (GRCm39) V215E probably damaging Het
Col4a4 A G 1: 82,463,353 (GRCm39) S1046P unknown Het
Col6a5 T C 9: 105,739,190 (GRCm39) Q2581R probably damaging Het
Cox5b-ps G A 13: 21,685,515 (GRCm39) A25V probably benign Het
Csmd2 A T 4: 128,389,921 (GRCm39) I2219F Het
Cux2 G A 5: 122,007,780 (GRCm39) S627L possibly damaging Het
Cyp2a22 A T 7: 26,638,715 (GRCm39) W24R probably null Het
Dhrs7c A T 11: 67,702,479 (GRCm39) T156S probably damaging Het
Dnah9 A G 11: 65,986,202 (GRCm39) V1144A probably damaging Het
Folh1 T C 7: 86,368,908 (GRCm39) T740A probably damaging Het
Foxo4 G A X: 100,301,955 (GRCm39) S209N probably benign Het
Gm10300 A G 4: 131,802,029 (GRCm39) T8A unknown Het
Gns T A 10: 121,214,057 (GRCm39) I244N probably benign Het
Gsdmd A G 15: 75,735,411 (GRCm39) K52E probably damaging Het
H1f0 A G 15: 78,913,217 (GRCm39) D99G probably benign Het
Hapln4 T C 8: 70,539,724 (GRCm39) Y252H probably damaging Het
Hmcn1 A C 1: 150,632,339 (GRCm39) I866S possibly damaging Het
Hrnr C T 3: 93,231,384 (GRCm39) R541C unknown Het
Igkv4-57-1 A G 6: 69,521,408 (GRCm39) I98T probably damaging Het
Itih3 T A 14: 30,641,279 (GRCm39) D253V probably damaging Het
Kansl1l T A 1: 66,760,970 (GRCm39) E869D probably damaging Het
Kif13a T C 13: 46,914,227 (GRCm39) Q502R probably damaging Het
Lama5 T A 2: 179,825,433 (GRCm39) Q2447L probably benign Het
Lcn6 A T 2: 25,570,034 (GRCm39) M1L probably benign Het
Lrrtm1 T C 6: 77,220,855 (GRCm39) V104A probably damaging Het
Map3k13 T C 16: 21,740,581 (GRCm39) L636P probably benign Het
Melk T A 4: 44,307,067 (GRCm39) H74Q possibly damaging Het
Mixl1 A T 1: 180,522,311 (GRCm39) M190K probably benign Het
Mttp A G 3: 137,830,989 (GRCm39) S27P probably damaging Het
Myh6 T C 14: 55,190,943 (GRCm39) I911V probably damaging Het
Ncapd3 T A 9: 26,956,873 (GRCm39) I262N probably benign Het
Ncapg2 C A 12: 116,411,368 (GRCm39) S1051* probably null Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nemp1 A G 10: 127,524,198 (GRCm39) D76G probably benign Het
Or12e10 A C 2: 87,640,202 (GRCm39) K13Q probably benign Het
Or2a20 G A 6: 43,194,258 (GRCm39) W137* probably null Het
Or2l13 A T 16: 19,306,113 (GRCm39) H175L possibly damaging Het
Or4a2 T A 2: 89,248,662 (GRCm39) I32F possibly damaging Het
Or8k36-ps1 T C 2: 86,437,909 (GRCm39) E2G probably benign Het
Osbpl5 C A 7: 143,249,308 (GRCm39) V578L probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Rabl3 A G 16: 37,377,190 (GRCm39) D49G possibly damaging Het
Rngtt A G 4: 33,368,618 (GRCm39) I384V possibly damaging Het
Robo1 T C 16: 72,105,257 (GRCm39) probably benign Het
Rtcb C A 10: 85,785,453 (GRCm39) R125L probably damaging Het
Rtn4rl2 C A 2: 84,702,954 (GRCm39) R206L probably damaging Het
Sbk2 A T 7: 4,960,333 (GRCm39) I279N probably benign Het
Scaf1 A G 7: 44,656,576 (GRCm39) S768P unknown Het
Slc6a9 A G 4: 117,721,198 (GRCm39) H316R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tas2r136 G T 6: 132,755,106 (GRCm39) T7K probably damaging Het
Tbc1d9 T A 8: 83,968,339 (GRCm39) probably null Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem40 T C 6: 115,719,306 (GRCm39) D53G probably benign Het
Tram1 A T 1: 13,640,238 (GRCm39) V272D possibly damaging Het
Trpc4 G A 3: 54,102,302 (GRCm39) D67N probably damaging Het
Ttc6 A T 12: 57,701,559 (GRCm39) T591S probably benign Het
Ube2g1 A T 11: 72,570,199 (GRCm39) E144V probably benign Het
Unc80 A G 1: 66,544,179 (GRCm39) D434G probably damaging Het
Vmn1r168 C A 7: 23,240,237 (GRCm39) N31K probably damaging Het
Vmn1r79 A T 7: 11,910,450 (GRCm39) T111S probably damaging Het
Vmn2r118 C T 17: 55,915,415 (GRCm39) probably null Het
Vps35l C A 7: 118,352,107 (GRCm39) D195E probably benign Het
Yy1 A G 12: 108,772,417 (GRCm39) D231G possibly damaging Het
Zfp748 A G 13: 67,690,573 (GRCm39) V229A 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
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
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'- CACAAGCTGTAGGATTAAAATGGTG -3'
(R):5'- CACATGAAAGAGGGTCATATGTTAC -3'

Sequencing Primer
(F):5'- AGCTGTAGGATTAAAATGGTGTTATC -3'
(R):5'- TTATAGCTCAGTGGGAAAGCC -3'
Posted On 2022-11-14