Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Atad2'

47056

Institutional Source

Beutler Lab

Gene Symbol

Atad2

Ensembl Gene

ENSMUSG00000022360

Gene Name

ATPase family, AAA domain containing 2

Synonyms

2610509G12Rik

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57957440-57998478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57966636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 652 (D652E)

Ref Sequence

ENSEMBL: ENSMUSP00000153936 (fasta)

Gene Model

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

AlphaFold

Q8CDM1

Predicted Effect

probably benign
Transcript: ENSMUST00000038194
AA Change: D976E

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: D976E

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: ENSMUST00000226526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228783
AA Change: D652E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		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
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
R1938:Atad2	UTSW	15	57,960,101 (GRCm39)	missense	possibly damaging	0.76
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'- TGCTTAGGACACTATGTTCACATGCC -3'
(R):5'- CGGTTTGCACTGAGTTATTTATTGCCC -3'

Sequencing Primer
(F):5'- TGTTCACATGCCATATAGAGAACAC -3'
(R):5'- GAGGGTGTTAACTAAAATCTCCCTCC -3'

Posted On

2013-06-12