Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Atr'

225096

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

040049-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95739650-95833834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95752075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 564 (L564S)

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: L564S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: L564S

Domain	Start	End	E-Value	Type
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: ENSMUST00000185473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191269

Predicted Effect

probably benign
Transcript: ENSMUST00000215311
AA Change: L564S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly damaging	Het

Other mutations in Atr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGCAATACACTTAAGCATAGGTTG -3'
(R):5'- TGTGAAACTCAGAAACTACCAGTAAGC -3'

Sequencing Primer
(F):5'- ACACTTAAGCATAGGTTGTTTTGC -3'
(R):5'- AGCCTTCATCTACAATGAC -3'

Posted On

2014-08-25