Incidental Mutation 'R2040:Abca2'
| ID |
225483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca2
|
| Ensembl Gene |
ENSMUSG00000026944 |
| Gene Name |
ATP-binding cassette, sub-family A member 2 |
| Synonyms |
Abc2, D2H0S1474E |
| MMRRC Submission |
040047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25318715-25338552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25333817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1755
(L1755P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102919]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102919
AA Change: L1755P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: L1755P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
coiled coil region
|
271 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
346 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
493 |
911 |
9.7e-18 |
PFAM |
|
AAA
|
1015 |
1197 |
9.22e-7 |
SMART |
|
low complexity region
|
1364 |
1376 |
N/A |
INTRINSIC |
|
low complexity region
|
1589 |
1607 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1696 |
2008 |
2.3e-44 |
PFAM |
|
AAA
|
2079 |
2264 |
1.12e-5 |
SMART |
|
low complexity region
|
2375 |
2394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199405
|
| Meta Mutation Damage Score |
0.9105 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
| Ano2 |
T |
A |
6: 126,016,471 (GRCm39) |
N1001K |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
| Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
| Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
| Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
| Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
| Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,951,138 (GRCm39) |
T297I |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
| Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
| Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
| Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,792,167 (GRCm39) |
E418G |
possibly damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
| Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
| Rxfp2 |
A |
C |
5: 149,993,677 (GRCm39) |
I580L |
probably benign |
Het |
| Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
| Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
| Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
| Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
| Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
| Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
| Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
| Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,900 (GRCm39) |
D160G |
possibly damaging |
Het |
| Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Abca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Abca2
|
APN |
2 |
25,335,975 (GRCm39) |
splice site |
probably null |
|
|
IGL01102:Abca2
|
APN |
2 |
25,323,968 (GRCm39) |
splice site |
probably benign |
|
|
IGL01322:Abca2
|
APN |
2 |
25,336,794 (GRCm39) |
splice site |
probably null |
|
|
IGL01402:Abca2
|
APN |
2 |
25,332,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Abca2
|
APN |
2 |
25,327,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01490:Abca2
|
APN |
2 |
25,336,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Abca2
|
APN |
2 |
25,334,406 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01661:Abca2
|
APN |
2 |
25,333,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01804:Abca2
|
APN |
2 |
25,336,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Abca2
|
APN |
2 |
25,334,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01941:Abca2
|
APN |
2 |
25,333,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02158:Abca2
|
APN |
2 |
25,337,891 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02173:Abca2
|
APN |
2 |
25,331,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02419:Abca2
|
APN |
2 |
25,336,849 (GRCm39) |
missense |
probably benign |
|
|
IGL02532:Abca2
|
APN |
2 |
25,325,148 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02572:Abca2
|
APN |
2 |
25,323,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Abseiling
|
UTSW |
2 |
25,337,015 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0126:Abca2
|
UTSW |
2 |
25,333,742 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0140:Abca2
|
UTSW |
2 |
25,328,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0372:Abca2
|
UTSW |
2 |
25,327,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Abca2
|
UTSW |
2 |
25,332,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Abca2
|
UTSW |
2 |
25,324,906 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0570:Abca2
|
UTSW |
2 |
25,337,417 (GRCm39) |
splice site |
probably null |
|
|
R1037:Abca2
|
UTSW |
2 |
25,328,240 (GRCm39) |
splice site |
probably benign |
|
|
R1283:Abca2
|
UTSW |
2 |
25,336,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Abca2
|
UTSW |
2 |
25,330,542 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1464:Abca2
|
UTSW |
2 |
25,337,846 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Abca2
|
UTSW |
2 |
25,331,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Abca2
|
UTSW |
2 |
25,331,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1480:Abca2
|
UTSW |
2 |
25,323,409 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1545:Abca2
|
UTSW |
2 |
25,332,370 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1562:Abca2
|
UTSW |
2 |
25,336,331 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1569:Abca2
|
UTSW |
2 |
25,329,197 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1586:Abca2
|
UTSW |
2 |
25,337,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1635:Abca2
|
UTSW |
2 |
25,334,868 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1699:Abca2
|
UTSW |
2 |
25,337,363 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1754:Abca2
|
UTSW |
2 |
25,324,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1760:Abca2
|
UTSW |
2 |
25,333,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2067:Abca2
|
UTSW |
2 |
25,327,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2111:Abca2
|
UTSW |
2 |
25,327,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2248:Abca2
|
UTSW |
2 |
25,323,476 (GRCm39) |
splice site |
probably benign |
|
|
R2323:Abca2
|
UTSW |
2 |
25,335,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2418:Abca2
|
UTSW |
2 |
25,328,001 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2419:Abca2
|
UTSW |
2 |
25,328,001 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3816:Abca2
|
UTSW |
2 |
25,336,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4180:Abca2
|
UTSW |
2 |
25,331,590 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4431:Abca2
|
UTSW |
2 |
25,332,864 (GRCm39) |
missense |
probably benign |
|
|
R4468:Abca2
|
UTSW |
2 |
25,334,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Abca2
|
UTSW |
2 |
25,333,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4839:Abca2
|
UTSW |
2 |
25,330,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4933:Abca2
|
UTSW |
2 |
25,334,839 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4970:Abca2
|
UTSW |
2 |
25,328,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Abca2
|
UTSW |
2 |
25,332,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5112:Abca2
|
UTSW |
2 |
25,328,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Abca2
|
UTSW |
2 |
25,335,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Abca2
|
UTSW |
2 |
25,336,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Abca2
|
UTSW |
2 |
25,326,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5725:Abca2
|
UTSW |
2 |
25,329,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5825:Abca2
|
UTSW |
2 |
25,326,748 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5837:Abca2
|
UTSW |
2 |
25,323,371 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5840:Abca2
|
UTSW |
2 |
25,323,371 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5851:Abca2
|
UTSW |
2 |
25,332,322 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6262:Abca2
|
UTSW |
2 |
25,334,922 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6344:Abca2
|
UTSW |
2 |
25,327,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Abca2
|
UTSW |
2 |
25,323,350 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6640:Abca2
|
UTSW |
2 |
25,337,015 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6980:Abca2
|
UTSW |
2 |
25,330,878 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6981:Abca2
|
UTSW |
2 |
25,334,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Abca2
|
UTSW |
2 |
25,333,007 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7080:Abca2
|
UTSW |
2 |
25,336,116 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7187:Abca2
|
UTSW |
2 |
25,327,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Abca2
|
UTSW |
2 |
25,332,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7297:Abca2
|
UTSW |
2 |
25,332,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Abca2
|
UTSW |
2 |
25,327,915 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Abca2
|
UTSW |
2 |
25,336,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7766:Abca2
|
UTSW |
2 |
25,331,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8084:Abca2
|
UTSW |
2 |
25,323,979 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8150:Abca2
|
UTSW |
2 |
25,337,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8684:Abca2
|
UTSW |
2 |
25,336,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8753:Abca2
|
UTSW |
2 |
25,332,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8970:Abca2
|
UTSW |
2 |
25,335,728 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9057:Abca2
|
UTSW |
2 |
25,331,584 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9378:Abca2
|
UTSW |
2 |
25,329,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9502:Abca2
|
UTSW |
2 |
25,326,895 (GRCm39) |
nonsense |
probably null |
|
|
R9688:Abca2
|
UTSW |
2 |
25,324,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9770:Abca2
|
UTSW |
2 |
25,328,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF063:Abca2
|
UTSW |
2 |
25,337,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF064:Abca2
|
UTSW |
2 |
25,337,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Abca2
|
UTSW |
2 |
25,334,122 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCTATGGTGCGGAAGATTG -3'
(R):5'- CACTCACAGGTAATCCAGGG -3'
Sequencing Primer
(F):5'- TGCGGAAGATTGCAGTGC -3'
(R):5'- GAGAGGCTAGCACTGGTCTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation