Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Atr'

550998

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95857597-95951781 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95865372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 236 (G236S)

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: G236S

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

probably damaging
Transcript: ENSMUST00000215311
AA Change: G236S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.1473

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354 (GRCm38)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461 (GRCm38)	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738 (GRCm38)	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315 (GRCm38)	F568S	probably damaging	Het
Brd3	T	A	2: 27,450,394 (GRCm38)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977 (GRCm38)	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114 (GRCm38)		probably null	Het
Csnka2ip	C	A	16: 64,478,757 (GRCm38)	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863 (GRCm38)	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379 (GRCm38)		probably null	Het
Endou	A	G	15: 97,718,929 (GRCm38)	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785 (GRCm38)	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962 (GRCm38)	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587 (GRCm38)		probably null	Het
Gm13119	C	T	4: 144,363,727 (GRCm38)	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540 (GRCm38)	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868 (GRCm38)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606 (GRCm38)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511 (GRCm38)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621 (GRCm38)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074 (GRCm38)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583 (GRCm38)		probably null	Het
Kcnmb4	T	C	10: 116,473,259 (GRCm38)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785 (GRCm38)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892 (GRCm38)	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879 (GRCm38)	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312 (GRCm38)	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166 (GRCm38)		probably benign	Het
Mindy3	C	A	2: 12,401,074 (GRCm38)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283 (GRCm38)	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165 (GRCm38)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410 (GRCm38)	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800 (GRCm38)	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673 (GRCm38)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846 (GRCm38)	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483 (GRCm38)	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388 (GRCm38)	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598 (GRCm38)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351 (GRCm38)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974 (GRCm38)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226 (GRCm38)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631 (GRCm38)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655 (GRCm38)	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813 (GRCm38)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644 (GRCm38)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306 (GRCm38)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471 (GRCm38)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867 (GRCm38)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857 (GRCm38)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584 (GRCm38)	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979 (GRCm38)	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885 (GRCm38)		probably null	Het
Tom1l1	T	C	11: 90,671,081 (GRCm38)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm38)	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547 (GRCm38)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428 (GRCm38)	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029 (GRCm38)	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492 (GRCm38)	A2619E		Het
Vps8	G	A	16: 21,526,441 (GRCm38)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800 (GRCm38)	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437 (GRCm38)	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632 (GRCm38)	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072 (GRCm38)	E149G	probably benign	Het

Other mutations in Atr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Atr	APN	9	95,865,052 (GRCm38)	missense	probably damaging	1.00
IGL00922:Atr	APN	9	95,907,345 (GRCm38)	missense	probably damaging	0.97
IGL01020:Atr	APN	9	95,862,783 (GRCm38)	missense	probably damaging	1.00
IGL01345:Atr	APN	9	95,940,949 (GRCm38)	missense	probably damaging	1.00
IGL01364:Atr	APN	9	95,865,624 (GRCm38)	missense	probably benign	0.29
IGL01456:Atr	APN	9	95,950,565 (GRCm38)	missense	possibly damaging	0.62
IGL01534:Atr	APN	9	95,865,546 (GRCm38)	missense	probably damaging	0.99
IGL01761:Atr	APN	9	95,951,448 (GRCm38)	splice site	probably benign
IGL01791:Atr	APN	9	95,921,781 (GRCm38)	missense	probably benign	0.05
IGL01831:Atr	APN	9	95,870,754 (GRCm38)	missense	probably benign	0.18
IGL01973:Atr	APN	9	95,871,674 (GRCm38)	missense	probably damaging	1.00
IGL02008:Atr	APN	9	95,881,420 (GRCm38)	splice site	probably benign
IGL02016:Atr	APN	9	95,927,175 (GRCm38)	missense	probably benign	0.09
IGL02035:Atr	APN	9	95,866,682 (GRCm38)	missense	probably benign	0.01
IGL02058:Atr	APN	9	95,871,487 (GRCm38)	missense	probably damaging	0.99
IGL02081:Atr	APN	9	95,883,205 (GRCm38)	missense	probably damaging	1.00
IGL02224:Atr	APN	9	95,878,629 (GRCm38)	missense	probably damaging	0.98
IGL02234:Atr	APN	9	95,947,250 (GRCm38)	splice site	probably benign
IGL02367:Atr	APN	9	95,899,141 (GRCm38)	nonsense	probably null
IGL02621:Atr	APN	9	95,908,400 (GRCm38)	missense	probably benign	0.00
IGL02728:Atr	APN	9	95,936,475 (GRCm38)	missense	probably damaging	1.00
IGL02833:Atr	APN	9	95,862,852 (GRCm38)	missense	probably damaging	1.00
IGL02939:Atr	APN	9	95,865,261 (GRCm38)	missense	probably benign
IGL03107:Atr	APN	9	95,897,730 (GRCm38)	missense	probably benign	0.28
IGL03382:Atr	APN	9	95,920,822 (GRCm38)	nonsense	probably null
PIT4812001:Atr	UTSW	9	95,910,649 (GRCm38)	missense	probably benign	0.41
R0042:Atr	UTSW	9	95,927,356 (GRCm38)	splice site	probably benign
R0042:Atr	UTSW	9	95,927,356 (GRCm38)	splice site	probably benign
R0281:Atr	UTSW	9	95,937,566 (GRCm38)	missense	probably benign	0.26
R0282:Atr	UTSW	9	95,862,798 (GRCm38)	missense	probably benign	0.12
R0512:Atr	UTSW	9	95,935,526 (GRCm38)	missense	probably damaging	0.99
R0547:Atr	UTSW	9	95,899,165 (GRCm38)	splice site	probably benign
R0567:Atr	UTSW	9	95,865,829 (GRCm38)	missense	probably benign	0.00
R0631:Atr	UTSW	9	95,874,777 (GRCm38)	missense	possibly damaging	0.92
R1116:Atr	UTSW	9	95,867,636 (GRCm38)	nonsense	probably null
R1171:Atr	UTSW	9	95,907,323 (GRCm38)	missense	probably damaging	1.00
R1241:Atr	UTSW	9	95,950,636 (GRCm38)	missense	probably benign	0.08
R1345:Atr	UTSW	9	95,920,355 (GRCm38)	missense	probably benign	0.25
R1400:Atr	UTSW	9	95,862,848 (GRCm38)	missense	probably benign	0.32
R1413:Atr	UTSW	9	95,932,442 (GRCm38)	missense	probably damaging	1.00
R1527:Atr	UTSW	9	95,870,043 (GRCm38)	missense	possibly damaging	0.82
R1557:Atr	UTSW	9	95,871,449 (GRCm38)	missense	probably damaging	1.00
R1591:Atr	UTSW	9	95,945,385 (GRCm38)	missense	probably damaging	1.00
R1602:Atr	UTSW	9	95,951,557 (GRCm38)	missense	probably damaging	1.00
R1605:Atr	UTSW	9	95,936,463 (GRCm38)	missense	probably damaging	1.00
R1670:Atr	UTSW	9	95,861,456 (GRCm38)	missense	probably benign	0.38
R1709:Atr	UTSW	9	95,871,076 (GRCm38)	missense	probably benign	0.00
R1728:Atr	UTSW	9	95,897,581 (GRCm38)	missense	probably benign	0.01
R1729:Atr	UTSW	9	95,897,581 (GRCm38)	missense	probably benign	0.01
R1739:Atr	UTSW	9	95,897,581 (GRCm38)	missense	probably benign	0.01
R1816:Atr	UTSW	9	95,866,694 (GRCm38)	missense	probably benign	0.00
R1824:Atr	UTSW	9	95,936,421 (GRCm38)	missense	probably damaging	1.00
R1844:Atr	UTSW	9	95,905,817 (GRCm38)	missense	probably benign	0.01
R1857:Atr	UTSW	9	95,865,097 (GRCm38)	missense	probably damaging	1.00
R1858:Atr	UTSW	9	95,865,097 (GRCm38)	missense	probably damaging	1.00
R1866:Atr	UTSW	9	95,870,605 (GRCm38)	splice site	probably null
R1913:Atr	UTSW	9	95,866,733 (GRCm38)	missense	probably benign	0.01
R2042:Atr	UTSW	9	95,870,022 (GRCm38)	missense	probably benign	0.00
R2210:Atr	UTSW	9	95,907,300 (GRCm38)	missense	probably damaging	1.00
R2230:Atr	UTSW	9	95,920,765 (GRCm38)	missense	probably damaging	1.00
R2361:Atr	UTSW	9	95,871,157 (GRCm38)	missense	probably benign	0.41
R2399:Atr	UTSW	9	95,871,599 (GRCm38)	missense	probably benign	0.00
R2431:Atr	UTSW	9	95,862,892 (GRCm38)	missense	probably benign	0.24
R2860:Atr	UTSW	9	95,874,243 (GRCm38)	missense	probably benign	0.07
R2861:Atr	UTSW	9	95,874,243 (GRCm38)	missense	probably benign	0.07
R3019:Atr	UTSW	9	95,905,818 (GRCm38)	missense	possibly damaging	0.52
R3684:Atr	UTSW	9	95,920,400 (GRCm38)	missense	probably damaging	0.96
R4155:Atr	UTSW	9	95,888,124 (GRCm38)	nonsense	probably null
R4295:Atr	UTSW	9	95,874,426 (GRCm38)	missense	probably benign	0.04
R4359:Atr	UTSW	9	95,951,536 (GRCm38)	missense	probably damaging	1.00
R4506:Atr	UTSW	9	95,865,237 (GRCm38)	missense	probably benign	0.21
R4523:Atr	UTSW	9	95,862,863 (GRCm38)	missense	probably damaging	1.00
R4536:Atr	UTSW	9	95,874,418 (GRCm38)	missense	probably benign	0.26
R4588:Atr	UTSW	9	95,865,667 (GRCm38)	missense	probably benign
R4646:Atr	UTSW	9	95,871,197 (GRCm38)	critical splice donor site	probably null
R4702:Atr	UTSW	9	95,920,355 (GRCm38)	missense	possibly damaging	0.92
R4743:Atr	UTSW	9	95,862,792 (GRCm38)	missense	probably benign	0.14
R4782:Atr	UTSW	9	95,862,797 (GRCm38)	missense	probably benign	0.00
R4928:Atr	UTSW	9	95,907,299 (GRCm38)	missense	probably damaging	1.00
R5031:Atr	UTSW	9	95,865,702 (GRCm38)	missense	probably damaging	0.98
R5138:Atr	UTSW	9	95,937,596 (GRCm38)	missense	probably benign	0.15
R5188:Atr	UTSW	9	95,921,725 (GRCm38)	missense	probably benign	0.00
R5219:Atr	UTSW	9	95,881,238 (GRCm38)	missense	probably damaging	0.99
R5307:Atr	UTSW	9	95,878,544 (GRCm38)	missense	probably benign	0.01
R5414:Atr	UTSW	9	95,870,704 (GRCm38)	missense	probably benign	0.00
R5628:Atr	UTSW	9	95,874,226 (GRCm38)	nonsense	probably null
R5664:Atr	UTSW	9	95,905,813 (GRCm38)	missense	probably benign	0.00
R5678:Atr	UTSW	9	95,951,487 (GRCm38)	nonsense	probably null
R5724:Atr	UTSW	9	95,866,588 (GRCm38)	missense	probably damaging	1.00
R5759:Atr	UTSW	9	95,874,402 (GRCm38)	missense	probably benign	0.01
R5763:Atr	UTSW	9	95,945,123 (GRCm38)	missense	probably benign	0.04
R5922:Atr	UTSW	9	95,903,682 (GRCm38)	missense	probably benign	0.00
R6051:Atr	UTSW	9	95,908,369 (GRCm38)	missense	possibly damaging	0.85
R6161:Atr	UTSW	9	95,865,319 (GRCm38)	missense	probably benign
R6171:Atr	UTSW	9	95,881,271 (GRCm38)	nonsense	probably null
R6532:Atr	UTSW	9	95,908,408 (GRCm38)	missense	probably benign
R6774:Atr	UTSW	9	95,927,213 (GRCm38)	missense	probably benign	0.00
R6894:Atr	UTSW	9	95,927,197 (GRCm38)	missense	probably damaging	1.00
R6930:Atr	UTSW	9	95,866,635 (GRCm38)	missense	probably benign	0.21
R7018:Atr	UTSW	9	95,866,694 (GRCm38)	missense	probably benign	0.17
R7056:Atr	UTSW	9	95,862,863 (GRCm38)	missense	probably damaging	1.00
R7154:Atr	UTSW	9	95,865,045 (GRCm38)	missense	probably benign
R7157:Atr	UTSW	9	95,869,900 (GRCm38)	missense	probably benign	0.00
R7188:Atr	UTSW	9	95,862,791 (GRCm38)	nonsense	probably null
R7189:Atr	UTSW	9	95,862,791 (GRCm38)	nonsense	probably null
R7300:Atr	UTSW	9	95,865,370 (GRCm38)	missense	probably benign	0.00
R7337:Atr	UTSW	9	95,871,448 (GRCm38)	missense	probably damaging	1.00
R7584:Atr	UTSW	9	95,942,713 (GRCm38)	missense	probably damaging	1.00
R7602:Atr	UTSW	9	95,907,383 (GRCm38)	missense	possibly damaging	0.64
R7633:Atr	UTSW	9	95,947,118 (GRCm38)	missense	probably damaging	1.00
R7640:Atr	UTSW	9	95,907,293 (GRCm38)	splice site	probably null
R7677:Atr	UTSW	9	95,885,462 (GRCm38)	missense	probably damaging	1.00
R7699:Atr	UTSW	9	95,875,690 (GRCm38)	nonsense	probably null
R7700:Atr	UTSW	9	95,875,690 (GRCm38)	nonsense	probably null
R7790:Atr	UTSW	9	95,874,180 (GRCm38)	missense	probably damaging	1.00
R8027:Atr	UTSW	9	95,865,756 (GRCm38)	missense	probably damaging	0.99
R8147:Atr	UTSW	9	95,899,060 (GRCm38)	missense	probably damaging	1.00
R8204:Atr	UTSW	9	95,935,513 (GRCm38)	missense
R8306:Atr	UTSW	9	95,920,370 (GRCm38)	missense
R8462:Atr	UTSW	9	95,867,526 (GRCm38)	missense	probably benign
R8716:Atr	UTSW	9	95,907,415 (GRCm38)	missense	probably benign	0.09
R8748:Atr	UTSW	9	95,932,423 (GRCm38)	missense	probably benign	0.00
R8795:Atr	UTSW	9	95,867,531 (GRCm38)	missense	probably damaging	1.00
R8891:Atr	UTSW	9	95,905,760 (GRCm38)	missense	probably benign	0.03
R8976:Atr	UTSW	9	95,890,766 (GRCm38)	missense	probably benign	0.00
R9024:Atr	UTSW	9	95,907,363 (GRCm38)	missense	possibly damaging	0.93
R9116:Atr	UTSW	9	95,865,798 (GRCm38)	missense	probably benign	0.00
R9523:Atr	UTSW	9	95,910,557 (GRCm38)	missense	possibly damaging	0.89
R9524:Atr	UTSW	9	95,910,557 (GRCm38)	missense	possibly damaging	0.89
R9525:Atr	UTSW	9	95,910,557 (GRCm38)	missense	possibly damaging	0.89
R9527:Atr	UTSW	9	95,885,376 (GRCm38)	missense	probably damaging	1.00
R9563:Atr	UTSW	9	95,920,780 (GRCm38)	missense	probably damaging	0.98
R9629:Atr	UTSW	9	95,865,045 (GRCm38)	missense	probably benign
R9642:Atr	UTSW	9	95,939,241 (GRCm38)	missense	probably damaging	1.00
R9652:Atr	UTSW	9	95,874,834 (GRCm38)	missense	probably damaging	1.00
R9660:Atr	UTSW	9	95,914,997 (GRCm38)	missense	probably benign	0.40
R9678:Atr	UTSW	9	95,910,557 (GRCm38)	missense	possibly damaging	0.89
R9728:Atr	UTSW	9	95,914,997 (GRCm38)	missense	probably benign	0.40
R9731:Atr	UTSW	9	95,865,039 (GRCm38)	missense	possibly damaging	0.52
R9732:Atr	UTSW	9	95,861,385 (GRCm38)	missense	probably damaging	1.00
R9749:Atr	UTSW	9	95,937,650 (GRCm38)	critical splice donor site	probably null
X0019:Atr	UTSW	9	95,940,871 (GRCm38)	missense	probably damaging	1.00
Z1088:Atr	UTSW	9	95,885,320 (GRCm38)	splice site	probably null
Z1177:Atr	UTSW	9	95,888,100 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCCACAAAAGAAATGCAGTGG -3'
(R):5'- AGCAGCTTTGACAATGGCTC -3'

Sequencing Primer
(F):5'- AATGGCCAGTGGTTGTTAGTC -3'
(R):5'- AGCTTTGACAATGGCTCTTCATAC -3'

Posted On

2019-05-15