Mutagenetix > Incidental Mutation

Incidental Mutation 'R4256:Atad2'

321834

Institutional Source

Beutler Lab

Gene Symbol

Atad2

Ensembl Gene

ENSMUSG00000022360

Gene Name

ATPase family, AAA domain containing 2

Synonyms

2610509G12Rik

MMRRC Submission

041069-MU

Accession Numbers

Essential gene?

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

Stock #

R4256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57957440-57998478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57980252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 411 (S411P)

Ref Sequence

ENSEMBL: ENSMUSP00000043691 (fasta)

Gene Model

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

AlphaFold

Q8CDM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038194
AA Change: S411P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: S411P

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: ENSMUST00000226507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227134

Predicted Effect

probably damaging
Transcript: ENSMUST00000228783
AA Change: S87P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.2650

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (41/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Cdhr2	G	A	13: 54,861,818 (GRCm39)	V72I	probably damaging	Het
Celf4	T	C	18: 25,624,258 (GRCm39)	I414V	probably damaging	Het
Cfap43	G	A	19: 47,770,844 (GRCm39)	T689I	probably benign	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp3a11	A	T	5: 145,806,005 (GRCm39)	S121T	probably benign	Het
Dip2c	C	A	13: 9,659,092 (GRCm39)	Q864K	probably damaging	Het
Fbxo3	A	G	2: 103,881,510 (GRCm39)	T281A	probably damaging	Het
Gm5148	T	A	3: 37,768,758 (GRCm39)	H154L	unknown	Het
Gsdma2	T	A	11: 98,542,758 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,052,663 (GRCm39)	I273M	possibly damaging	Het
Hspa4l	A	G	3: 40,700,435 (GRCm39)	E14G	probably benign	Het
Inava	G	T	1: 136,142,088 (GRCm39)	N670K	probably benign	Het
Lgals12	T	G	19: 7,584,081 (GRCm39)	E5D	possibly damaging	Het
Lsg1	T	G	16: 30,392,061 (GRCm39)	I237L	probably benign	Het
Mettl14	T	C	3: 123,177,254 (GRCm39)	E49G	probably damaging	Het
Nbeal1	A	G	1: 60,370,107 (GRCm39)	I2675V	probably benign	Het
Or2y1e	A	T	11: 49,218,304 (GRCm39)	Q22L	probably benign	Het
Or4b1b	A	T	2: 90,112,406 (GRCm39)	V171E	probably damaging	Het
Or5k15	T	G	16: 58,710,143 (GRCm39)	S147R	probably benign	Het
Padi1	A	T	4: 140,542,089 (GRCm39)	L611Q	probably damaging	Het
Pcdhac2	A	G	18: 37,277,764 (GRCm39)	D248G	probably damaging	Het
Plekhm1	C	A	11: 103,261,760 (GRCm39)	R940L	probably damaging	Het
Rasa3	A	G	8: 13,664,532 (GRCm39)		probably null	Het
Rspo2	C	A	15: 42,939,307 (GRCm39)	R161L	probably benign	Het
Sacs	A	G	14: 61,443,786 (GRCm39)	Y1944C	probably damaging	Het
Slc7a10	G	T	7: 34,898,140 (GRCm39)	M297I	probably damaging	Het
Spata31e3	A	C	13: 50,404,141 (GRCm39)	S54A	probably benign	Het
Ssh2	A	G	11: 77,299,009 (GRCm39)	T112A	possibly damaging	Het
Ttc7	A	T	17: 87,628,829 (GRCm39)		probably null	Het
Vmn1r64	T	A	7: 5,886,895 (GRCm39)	H216L	probably benign	Het
Vmn2r112	A	G	17: 22,837,393 (GRCm39)	K618R	probably damaging	Het
Vmp1	T	A	11: 86,552,014 (GRCm39)	I117L	probably benign	Het
Vsnl1	A	T	12: 11,382,056 (GRCm39)	Y108*	probably null	Het
Wdr31	A	G	4: 62,375,675 (GRCm39)		probably null	Het
Zfp329	A	G	7: 12,541,840 (GRCm39)	V284A	probably benign	Het
Zfp551	G	A	7: 12,150,318 (GRCm39)	H364Y	possibly damaging	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
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
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'- CACTCAGGTTGCCAGGCT -3'
(R):5'- TGACTTGAAGTGTAATTTCAATCACT -3'

Sequencing Primer
(F):5'- AGGCTTGTTGGATACCAGCCTAAC -3'
(R):5'- GCTCAGCACTTAGAGCATTTGTAGC -3'

Posted On

2015-06-20