Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Atad2'

213748

Institutional Source

Beutler Lab

Gene Symbol

Atad2

Ensembl Gene

ENSMUSG00000022360

Gene Name

ATPase family, AAA domain containing 2

Synonyms

2610509G12Rik

MMRRC Submission

039956-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R1938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57957440-57998478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57960101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1308 (N1308Y)

Ref Sequence

ENSEMBL: ENSMUSP00000043691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]

AlphaFold

Q8CDM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038194
AA Change: N1308Y

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: N1308Y

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
low complexity region	237	268	N/A	INTRINSIC
low complexity region	337	349	N/A	INTRINSIC
AAA	438	579	9.93e-21	SMART
low complexity region	622	633	N/A	INTRINSIC
SCOP:d1e32a2	751	912	5e-4	SMART
low complexity region	924	947	N/A	INTRINSIC
BROMO	955	1067	1.2e-19	SMART
low complexity region	1213	1235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228783
AA Change: N984Y

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,795 (GRCm39)	K134R	possibly damaging	Het
Adamts17	T	C	7: 66,774,820 (GRCm39)	S980P	probably damaging	Het
Adap2	T	A	11: 80,061,508 (GRCm39)	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,539,876 (GRCm39)	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,350,841 (GRCm39)	L30Q	probably benign	Het
Agpat5	A	G	8: 18,928,181 (GRCm39)	T249A	probably benign	Het
Agxt2	G	T	15: 10,392,021 (GRCm39)	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,427,233 (GRCm39)	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,337,229 (GRCm39)	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,786,540 (GRCm39)	Q429R	probably damaging	Het
Arsb	T	A	13: 93,998,658 (GRCm39)	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,891,729 (GRCm39)	T1203A	probably damaging	Het
Atp10b	A	T	11: 43,121,245 (GRCm39)	R969S	probably benign	Het
Bmp10	T	C	6: 87,410,702 (GRCm39)	I165T	possibly damaging	Het
Ccdc121rt2	C	A	5: 112,597,667 (GRCm39)	C71*	probably null	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,240 (GRCm39)	N1565D	probably damaging	Het
Chd1	A	T	17: 15,982,748 (GRCm39)	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200 (GRCm39)	E1648K	probably damaging	Het
Chodl	T	C	16: 78,738,314 (GRCm39)	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,542,584 (GRCm39)	F574S	probably damaging	Het
Clpb	A	T	7: 101,412,863 (GRCm39)	I317F	probably damaging	Het
Cnga3	T	A	1: 37,300,954 (GRCm39)	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,261,554 (GRCm39)	P573S	probably damaging	Het
Crat	A	T	2: 30,303,073 (GRCm39)	D71E	probably benign	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Ctsr	T	A	13: 61,310,259 (GRCm39)	R132S	probably benign	Het
Ctu2	T	C	8: 123,206,024 (GRCm39)	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,837,810 (GRCm39)	Y424C	probably damaging	Het
Ddx27	A	T	2: 166,876,029 (GRCm39)	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,749,772 (GRCm39)	Q121R	probably damaging	Het
Dis3	A	G	14: 99,335,026 (GRCm39)	F192S	probably benign	Het
Ect2l	C	T	10: 18,020,383 (GRCm39)	S487N	probably benign	Het
Eml1	T	A	12: 108,487,655 (GRCm39)	F524L	possibly damaging	Het
Espl1	T	C	15: 102,213,477 (GRCm39)	I601T	probably benign	Het
Fbxo40	C	A	16: 36,789,713 (GRCm39)	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711 (GRCm39)	T844M	probably damaging	Het
Frs2	T	A	10: 116,917,011 (GRCm39)		probably benign	Het
Fuom	G	T	7: 139,679,521 (GRCm39)	T133K	probably benign	Het
Garnl3	T	A	2: 32,895,212 (GRCm39)	H619L	probably damaging	Het
Gm4861	G	T	3: 137,257,876 (GRCm39)	N36K	unknown	Het
Gps2	G	T	11: 69,806,195 (GRCm39)	M153I	probably benign	Het
Gtf2ird1	A	G	5: 134,444,099 (GRCm39)	V52A	probably damaging	Het
Gtpbp8	A	T	16: 44,565,785 (GRCm39)	D137E	probably benign	Het
Haus4	A	G	14: 54,781,733 (GRCm39)	C213R	probably damaging	Het
Hdc	T	A	2: 126,448,317 (GRCm39)	H142L	possibly damaging	Het
Hephl1	T	C	9: 14,965,283 (GRCm39)	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,602,926 (GRCm39)	V535D	probably damaging	Het
Hipk3	A	T	2: 104,260,533 (GRCm39)	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,422,691 (GRCm39)	V513D	probably damaging	Het
Ifna13	T	A	4: 88,562,412 (GRCm39)	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,402,484 (GRCm39)	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,738 (GRCm39)	D483V	probably benign	Het
Jakmip3	A	G	7: 138,621,867 (GRCm39)	R256G	probably damaging	Het
Jazf1	T	C	6: 52,754,600 (GRCm39)	I159V	probably damaging	Het
Kmo	A	G	1: 175,479,154 (GRCm39)	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,371,058 (GRCm39)	V213A	probably benign	Het
LTO1	A	G	7: 144,470,205 (GRCm39)	S45G	probably damaging	Het
Ly6g5b	T	C	17: 35,333,704 (GRCm39)	D36G	possibly damaging	Het
Mab21l4	T	C	1: 93,079,730 (GRCm39)	*453W	probably null	Het
Macc1	T	G	12: 119,409,466 (GRCm39)	L78R	probably damaging	Het
Mettl4	A	T	17: 95,055,285 (GRCm39)	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,332,835 (GRCm39)	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,679,190 (GRCm39)	R363L	probably damaging	Het
Mrc1	G	A	2: 14,324,052 (GRCm39)	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,847,805 (GRCm39)	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,206,770 (GRCm39)		probably null	Het
Ms4a3	C	T	19: 11,613,204 (GRCm39)	A85T	possibly damaging	Het
Mttp	A	T	3: 137,830,882 (GRCm39)	D77E	probably benign	Het
Muc6	A	G	7: 141,217,011 (GRCm39)	L2489P	probably damaging	Het
Myl3	G	A	9: 110,595,802 (GRCm39)	E100K	probably damaging	Het
Nbea	T	A	3: 55,992,743 (GRCm39)	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,574,166 (GRCm39)	V181A	probably benign	Het
Oat	C	T	7: 132,159,934 (GRCm39)	V429M	probably benign	Het
Or2ak6	A	T	11: 58,593,449 (GRCm39)	*307C	probably null	Het
Or4x6	T	G	2: 89,949,427 (GRCm39)	I172L	probably damaging	Het
Or5d36	A	T	2: 87,901,300 (GRCm39)	L142Q	probably damaging	Het
Or5p80	T	C	7: 108,230,045 (GRCm39)	I282T	probably benign	Het
Or5w19	G	A	2: 87,698,805 (GRCm39)	V157I	probably benign	Het
Or6b13	A	G	7: 139,782,144 (GRCm39)	F180L	probably benign	Het
Or6c69b	T	A	10: 129,626,759 (GRCm39)	K233M	probably damaging	Het
Or8b55	A	G	9: 38,727,146 (GRCm39)	T116A	probably benign	Het
Or8s16	T	A	15: 98,211,261 (GRCm39)	M57L	probably damaging	Het
Otof	A	G	5: 30,533,713 (GRCm39)	S1464P	probably benign	Het
Otogl	A	T	10: 107,613,436 (GRCm39)	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,291,040 (GRCm39)		probably null	Het
Pgbd5	T	A	8: 125,100,988 (GRCm39)	K332*	probably null	Het
Pgs1	C	T	11: 117,896,553 (GRCm39)	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,363,434 (GRCm39)	S618N	probably benign	Het
Plcb1	A	T	2: 135,228,222 (GRCm39)	D1073V	probably damaging	Het
Pola2	T	A	19: 6,001,208 (GRCm39)	T309S	probably benign	Het
Polg2	T	A	11: 106,669,787 (GRCm39)	H161L	probably damaging	Het
Postn	T	A	3: 54,285,033 (GRCm39)		probably null	Het
Ppt1	G	T	4: 122,739,784 (GRCm39)	C128F	probably damaging	Het
Ptpn12	G	A	5: 21,198,261 (GRCm39)	P678S	probably damaging	Het
Rcan3	A	T	4: 135,139,812 (GRCm39)		probably null	Het
Rgs22	T	C	15: 36,101,950 (GRCm39)	N216S	probably benign	Het
Rgs7bp	T	A	13: 105,088,090 (GRCm39)	D228V	probably damaging	Het
Rhobtb2	A	T	14: 70,034,062 (GRCm39)	S388T	probably benign	Het
Rnps1	C	T	17: 24,639,364 (GRCm39)	R138C	unknown	Het
Rpl38	T	C	11: 114,562,602 (GRCm39)	V36A	probably benign	Het
Rps7	G	T	12: 28,681,752 (GRCm39)	H126Q	possibly damaging	Het
Sec24b	G	T	3: 129,785,010 (GRCm39)	Q999K	possibly damaging	Het
Slc19a3	A	G	1: 82,997,089 (GRCm39)	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,924,941 (GRCm39)	V113E	probably benign	Het
Ss18l1	A	T	2: 179,705,138 (GRCm39)	T377S	unknown	Het
Surf1	A	G	2: 26,805,982 (GRCm39)	F38L	probably benign	Het
Ticrr	G	A	7: 79,325,142 (GRCm39)	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,250,014 (GRCm39)	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,100,692 (GRCm39)	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,482,560 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,305,684 (GRCm39)	D1191E	probably damaging	Het
Tnr	C	A	1: 159,722,607 (GRCm39)	Y1017*	probably null	Het
Tomm34	A	G	2: 163,902,926 (GRCm39)	I128T	probably benign	Het
Trim2	G	A	3: 84,085,099 (GRCm39)	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,977 (GRCm39)	I2968N	probably damaging	Het
Ttc24	T	C	3: 87,982,181 (GRCm39)	E17G	probably benign	Het
Ttc41	A	G	10: 86,612,078 (GRCm39)	H1117R	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Ttn	A	T	2: 76,592,730 (GRCm39)	S20801T	possibly damaging	Het
Ube3d	C	T	9: 86,330,840 (GRCm39)	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,388,716 (GRCm39)	L499R	probably damaging	Het
Vmn1r81	T	C	7: 11,994,589 (GRCm39)	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 19,149,593 (GRCm39)	Y327F	probably benign	Het
Vps13b	T	C	15: 35,709,653 (GRCm39)	S1867P	probably damaging	Het
Wdr11	T	C	7: 129,208,331 (GRCm39)	V362A	probably benign	Het
Zan	T	A	5: 137,387,201 (GRCm39)	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,809,884 (GRCm39)	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,790,809 (GRCm39)	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,923,767 (GRCm39)	T663I	probably benign	Het
Zfpm1	T	A	8: 123,061,663 (GRCm39)		probably null	Het
Zfyve19	T	C	2: 119,041,693 (GRCm39)	S87P	probably benign	Het
Zswim9	T	A	7: 12,994,141 (GRCm39)	K672*	probably null	Het

Other mutations in Atad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Atad2	APN	15	57,980,216 (GRCm39)	missense	probably damaging	1.00
IGL00556:Atad2	APN	15	57,963,476 (GRCm39)	missense	probably damaging	1.00
IGL00674:Atad2	APN	15	57,971,782 (GRCm39)	missense	possibly damaging	0.49
IGL01407:Atad2	APN	15	57,967,921 (GRCm39)	missense	probably benign
IGL02557:Atad2	APN	15	57,985,993 (GRCm39)	missense	probably benign	0.04
IGL03060:Atad2	APN	15	57,985,842 (GRCm39)	unclassified	probably benign
IGL03308:Atad2	APN	15	57,965,919 (GRCm39)	missense	probably benign	0.00
R0113:Atad2	UTSW	15	57,984,330 (GRCm39)	unclassified	probably benign
R0195:Atad2	UTSW	15	57,963,350 (GRCm39)	splice site	probably benign
R0310:Atad2	UTSW	15	57,977,653 (GRCm39)	missense	probably damaging	1.00
R0499:Atad2	UTSW	15	57,984,345 (GRCm39)	missense	probably benign
R0499:Atad2	UTSW	15	57,966,636 (GRCm39)	missense	possibly damaging	0.92
R0564:Atad2	UTSW	15	57,989,229 (GRCm39)	splice site	probably benign
R0578:Atad2	UTSW	15	57,968,964 (GRCm39)	missense	probably damaging	1.00
R0581:Atad2	UTSW	15	57,990,060 (GRCm39)	missense	probably benign
R0667:Atad2	UTSW	15	57,962,115 (GRCm39)	missense	probably benign	0.01
R0697:Atad2	UTSW	15	57,968,939 (GRCm39)	missense	possibly damaging	0.91
R1219:Atad2	UTSW	15	57,998,307 (GRCm39)	missense	probably benign	0.00
R1271:Atad2	UTSW	15	57,989,985 (GRCm39)	missense	probably benign	0.00
R1544:Atad2	UTSW	15	57,966,760 (GRCm39)	missense	probably damaging	1.00
R1624:Atad2	UTSW	15	57,963,415 (GRCm39)	missense	probably damaging	1.00
R1853:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1854:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1855:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1860:Atad2	UTSW	15	57,960,114 (GRCm39)	splice site	probably null
R1861:Atad2	UTSW	15	57,960,114 (GRCm39)	splice site	probably null
R1876:Atad2	UTSW	15	57,970,264 (GRCm39)	missense	probably benign	0.00
R2158:Atad2	UTSW	15	57,961,962 (GRCm39)	missense	possibly damaging	0.95
R3756:Atad2	UTSW	15	57,963,119 (GRCm39)	missense	probably benign	0.01
R4256:Atad2	UTSW	15	57,980,252 (GRCm39)	missense	probably damaging	1.00
R4762:Atad2	UTSW	15	57,971,758 (GRCm39)	missense	probably benign
R4827:Atad2	UTSW	15	57,971,744 (GRCm39)	missense	probably benign	0.07
R4838:Atad2	UTSW	15	57,966,679 (GRCm39)	missense	probably damaging	1.00
R5238:Atad2	UTSW	15	57,971,733 (GRCm39)	missense	possibly damaging	0.90
R5247:Atad2	UTSW	15	57,967,874 (GRCm39)	nonsense	probably null
R5685:Atad2	UTSW	15	57,980,194 (GRCm39)	missense	possibly damaging	0.95
R5790:Atad2	UTSW	15	57,989,990 (GRCm39)	missense	probably damaging	1.00
R5813:Atad2	UTSW	15	57,963,250 (GRCm39)	missense	probably benign	0.42
R5886:Atad2	UTSW	15	57,961,910 (GRCm39)	nonsense	probably null
R5955:Atad2	UTSW	15	57,969,055 (GRCm39)	missense	probably benign	0.06
R6034:Atad2	UTSW	15	57,971,959 (GRCm39)	missense	probably damaging	1.00
R6034:Atad2	UTSW	15	57,971,959 (GRCm39)	missense	probably damaging	1.00
R6111:Atad2	UTSW	15	57,971,487 (GRCm39)	missense	probably benign	0.07
R6209:Atad2	UTSW	15	57,981,811 (GRCm39)	missense	probably damaging	1.00
R6587:Atad2	UTSW	15	57,984,444 (GRCm39)	missense	probably benign	0.03
R6856:Atad2	UTSW	15	57,970,209 (GRCm39)	missense	probably damaging	1.00
R7106:Atad2	UTSW	15	57,980,162 (GRCm39)	critical splice donor site	probably null
R7178:Atad2	UTSW	15	57,980,689 (GRCm39)	missense	probably damaging	1.00
R7290:Atad2	UTSW	15	57,962,047 (GRCm39)	missense	probably benign	0.00
R7421:Atad2	UTSW	15	57,998,322 (GRCm39)	missense	probably benign	0.40
R7583:Atad2	UTSW	15	57,990,060 (GRCm39)	missense	probably benign
R7861:Atad2	UTSW	15	57,989,176 (GRCm39)	missense	probably benign	0.10
R7886:Atad2	UTSW	15	57,989,532 (GRCm39)	missense	probably damaging	1.00
R8072:Atad2	UTSW	15	57,963,374 (GRCm39)	missense	possibly damaging	0.96
R8126:Atad2	UTSW	15	57,968,987 (GRCm39)	missense	probably benign	0.02
R8845:Atad2	UTSW	15	57,989,532 (GRCm39)	missense	probably damaging	1.00
R9027:Atad2	UTSW	15	57,995,628 (GRCm39)	missense	probably benign	0.04
R9079:Atad2	UTSW	15	57,989,223 (GRCm39)	missense	probably benign	0.35
R9161:Atad2	UTSW	15	57,989,185 (GRCm39)	missense	possibly damaging	0.64
R9209:Atad2	UTSW	15	57,980,194 (GRCm39)	missense	possibly damaging	0.95
R9266:Atad2	UTSW	15	57,985,967 (GRCm39)	missense	probably benign	0.00
R9306:Atad2	UTSW	15	57,959,994 (GRCm39)	nonsense	probably null
R9546:Atad2	UTSW	15	57,989,973 (GRCm39)	missense	probably damaging	1.00
R9547:Atad2	UTSW	15	57,989,973 (GRCm39)	missense	probably damaging	1.00
R9614:Atad2	UTSW	15	57,970,119 (GRCm39)	critical splice donor site	probably null
R9655:Atad2	UTSW	15	57,998,303 (GRCm39)	missense	probably damaging	1.00
R9663:Atad2	UTSW	15	57,971,540 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAAGGGGAGTGTAAAGTGTTTCTAG -3'
(R):5'- CTGGTGTCACAGAATGAAGGAAACC -3'

Sequencing Primer
(F):5'- GCAGTGTAGAAAGACCCTGTCTC -3'
(R):5'- CCTAAGAAAGTCATTGCCAGAGG -3'

Posted On

2014-07-14