Incidental Mutation 'R4827:Atad2'
| ID |
372528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
042443-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R4827 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 57971744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 702
(V702L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: V702L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: V702L
| 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: ENSMUST00000226526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228783
AA Change: V378L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0678 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,413,489 (GRCm39) |
R274G |
probably benign |
Het |
| Agbl5 |
T |
G |
5: 31,053,158 (GRCm39) |
S83R |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,751,907 (GRCm39) |
I711T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,224 (GRCm39) |
|
probably null |
Het |
| B4galnt4 |
A |
G |
7: 140,648,392 (GRCm39) |
E636G |
probably benign |
Het |
| Btbd2 |
A |
G |
10: 80,482,223 (GRCm39) |
I244T |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,182,290 (GRCm39) |
N531K |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,813,527 (GRCm39) |
M266K |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,737,937 (GRCm39) |
|
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,994,903 (GRCm39) |
V590A |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,267 (GRCm39) |
Y504C |
probably damaging |
Het |
| Elovl4 |
T |
C |
9: 83,688,091 (GRCm39) |
M1V |
probably null |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fads2 |
A |
G |
19: 10,059,958 (GRCm39) |
F239L |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,121,953 (GRCm39) |
|
probably null |
Het |
| Ggact |
C |
T |
14: 123,128,987 (GRCm39) |
R76H |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,506,218 (GRCm39) |
F13I |
probably damaging |
Het |
| Gng2 |
T |
C |
14: 19,925,898 (GRCm39) |
K65E |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,038,245 (GRCm39) |
Y94H |
possibly damaging |
Het |
| Gzme |
C |
A |
14: 56,356,755 (GRCm39) |
R69M |
probably null |
Het |
| Hdc |
G |
A |
2: 126,436,233 (GRCm39) |
P546L |
probably benign |
Het |
| Ibtk |
C |
A |
9: 85,610,607 (GRCm39) |
V326F |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,637,643 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,546,564 (GRCm39) |
C1006S |
probably benign |
Het |
| Kcnk18 |
A |
T |
19: 59,208,362 (GRCm39) |
N66I |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,190 (GRCm39) |
N50K |
probably damaging |
Het |
| Lrba |
G |
T |
3: 86,267,457 (GRCm39) |
D1716Y |
possibly damaging |
Het |
| Ltf |
T |
A |
9: 110,856,445 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,160 (GRCm39) |
T794A |
possibly damaging |
Het |
| Mcm8 |
A |
G |
2: 132,665,174 (GRCm39) |
T217A |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,996,713 (GRCm39) |
E141G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,278,880 (GRCm39) |
T324A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msl2 |
T |
G |
9: 100,979,350 (GRCm39) |
F575V |
probably benign |
Het |
| Ncoa4-ps |
C |
T |
12: 119,225,529 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp2 |
A |
T |
7: 5,331,950 (GRCm39) |
W149R |
possibly damaging |
Het |
| Ntng1 |
C |
A |
3: 110,042,727 (GRCm39) |
C33F |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,418 (GRCm39) |
Y359H |
probably benign |
Het |
| Olfml2a |
A |
C |
2: 38,850,033 (GRCm39) |
D583A |
probably damaging |
Het |
| Or12j5 |
A |
C |
7: 140,083,583 (GRCm39) |
L263R |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,547 (GRCm39) |
Y120* |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,422 (GRCm39) |
I130T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,547 (GRCm39) |
I124N |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,752 (GRCm39) |
S245T |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,251 (GRCm39) |
S145P |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,643,099 (GRCm39) |
K459* |
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,075,570 (GRCm39) |
F653S |
probably damaging |
Het |
| Plpp3 |
T |
C |
4: 105,088,167 (GRCm39) |
I296T |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,490,398 (GRCm39) |
E846G |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,419,708 (GRCm39) |
N157Y |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,222 (GRCm39) |
L1815P |
probably damaging |
Het |
| Sap18 |
A |
G |
14: 58,036,020 (GRCm39) |
N69D |
probably damaging |
Het |
| Sncg |
C |
A |
14: 34,095,284 (GRCm39) |
V74F |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,923 (GRCm39) |
K86E |
possibly damaging |
Het |
| Spmip4 |
A |
C |
6: 50,572,836 (GRCm39) |
S26A |
possibly damaging |
Het |
| Tmem186 |
A |
T |
16: 8,453,681 (GRCm39) |
Y193* |
probably null |
Het |
| Trrap |
A |
G |
5: 144,737,758 (GRCm39) |
S1045G |
probably benign |
Het |
| Tti2 |
T |
G |
8: 31,640,998 (GRCm39) |
S41A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,568 (GRCm39) |
E761G |
probably damaging |
Het |
| Vamp2 |
T |
A |
11: 68,980,637 (GRCm39) |
D68E |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,265 (GRCm39) |
M14L |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,000,186 (GRCm39) |
D480V |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,213 (GRCm39) |
L1393P |
probably damaging |
Het |
| Zfp512 |
G |
A |
5: 31,630,158 (GRCm39) |
M274I |
probably benign |
Het |
| Znfx1 |
C |
G |
2: 166,886,151 (GRCm39) |
G803A |
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 |
|
R4256:Atad2
|
UTSW |
15 |
57,980,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Atad2
|
UTSW |
15 |
57,971,758 (GRCm39) |
missense |
probably benign |
|
|
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'- CACTGTATGCCAAATCACTTTCTAG -3'
(R):5'- GTCAATCTGTGCTGAAGCTG -3'
Sequencing Primer
(F):5'- TGCCAAATCACTTTCTAGAAAAGGGC -3'
(R):5'- AAGCTGCTTTGTGCGCC -3'
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| Posted On |
2016-03-01 |
Incidental Mutation