Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Atr'

446126

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95739650-95833834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95827176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 2407 (M2407V)

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
AA Change: M2401V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: M2401V

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: ENSMUST00000180727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188854

Predicted Effect

probably benign
Transcript: ENSMUST00000215311
AA Change: M2407V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

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
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or1e33	T	A	11: 73,738,693 (GRCm39)	Q86L	probably benign	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Prss50	A	T	9: 110,691,517 (GRCm39)	K82*	probably null	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tmc6	A	G	11: 117,660,259 (GRCm39)	F660L	possibly damaging	Het
Tnpo1	A	C	13: 98,996,445 (GRCm39)	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het
Zik1	G	T	7: 10,226,293 (GRCm39)	H25N	probably benign	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
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
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'- AGGGTTCATTCTTGTTATACTGTCAAG -3'
(R):5'- ATACTCTGTGCCAGGTTAAGTAC -3'

Sequencing Primer
(F):5'- CATTCTTGCTTTTCAGTTGTAG -3'
(R):5'- GTAGGATCAGGGAATGTTCTC -3'

Posted On

2016-11-21