Incidental Mutation 'R7284:Abcc3'
| ID |
565887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc3
|
| Ensembl Gene |
ENSMUSG00000020865 |
| Gene Name |
ATP-binding cassette, sub-family C member 3 |
| Synonyms |
1700019L09Rik, MRP3 |
| MMRRC Submission |
045392-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94247873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1207
(A1207T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021231
AA Change: A1206T
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: A1206T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
310 |
581 |
4.4e-43 |
PFAM |
|
AAA
|
652 |
827 |
2.77e-10 |
SMART |
|
Pfam:ABC_membrane
|
963 |
1235 |
3.2e-46 |
PFAM |
|
AAA
|
1310 |
1495 |
2.66e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: A1207T
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: A1207T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
310 |
581 |
4.8e-34 |
PFAM |
|
AAA
|
652 |
827 |
2.77e-10 |
SMART |
|
coiled coil region
|
854 |
883 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
967 |
1236 |
8.6e-48 |
PFAM |
|
AAA
|
1311 |
1496 |
2.66e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.4772 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
99% (77/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,246,605 (GRCm39) |
E34* |
probably null |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,404 (GRCm39) |
R30H |
probably damaging |
Het |
| AB124611 |
C |
A |
9: 21,450,400 (GRCm39) |
Q158K |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,628,643 (GRCm39) |
L367Q |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,676,812 (GRCm39) |
K266E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,006,246 (GRCm39) |
D190E |
probably damaging |
Het |
| Angel1 |
G |
T |
12: 86,767,298 (GRCm39) |
D359E |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,184 (GRCm39) |
I474T |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,398,008 (GRCm39) |
|
probably null |
Het |
| Best1 |
T |
C |
19: 9,963,737 (GRCm39) |
|
probably null |
Het |
| Bhlha9 |
A |
G |
11: 76,563,492 (GRCm39) |
S40G |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,530,668 (GRCm39) |
R178C |
|
Het |
| Ccnb1ip1 |
A |
G |
14: 51,029,736 (GRCm39) |
Y109H |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,381,715 (GRCm39) |
S1763P |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,300,004 (GRCm39) |
T327A |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,645,648 (GRCm39) |
Y889H |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,908 (GRCm39) |
Y523* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,909,662 (GRCm39) |
D4484V |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,881,302 (GRCm39) |
M2591K |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,180,672 (GRCm39) |
E1715G |
probably benign |
Het |
| Dym |
A |
G |
18: 75,252,242 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,521,453 (GRCm39) |
M439T |
probably benign |
Het |
| Folr1 |
T |
G |
7: 101,508,677 (GRCm39) |
N83H |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,904 (GRCm39) |
L656P |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,779,542 (GRCm39) |
H161R |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,472,017 (GRCm39) |
Y491H |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,883,402 (GRCm39) |
C412S |
possibly damaging |
Het |
| Hmgcr |
A |
C |
13: 96,789,173 (GRCm39) |
V716G |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,479 (GRCm39) |
D799G |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,158,976 (GRCm39) |
T501A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,690 (GRCm39) |
R355* |
probably null |
Het |
| Kcna7 |
T |
A |
7: 45,058,652 (GRCm39) |
I313N |
probably damaging |
Het |
| Kirrel1 |
A |
C |
3: 86,990,694 (GRCm39) |
D709E |
probably benign |
Het |
| Klb |
T |
A |
5: 65,540,821 (GRCm39) |
S971R |
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,238 (GRCm39) |
C140* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,309 (GRCm39) |
L334Q |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,059,775 (GRCm39) |
R97* |
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,835,746 (GRCm39) |
S129P |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myh9 |
G |
A |
15: 77,671,796 (GRCm39) |
R432C |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,144,902 (GRCm39) |
T236A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,804 (GRCm39) |
D2581G |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,663,675 (GRCm39) |
M778K |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,363,548 (GRCm39) |
D209G |
probably benign |
Het |
| Nploc4 |
C |
T |
11: 120,307,196 (GRCm39) |
V181I |
possibly damaging |
Het |
| Nrcam |
A |
T |
12: 44,610,817 (GRCm39) |
I506F |
probably damaging |
Het |
| Or52w1 |
T |
A |
7: 105,017,752 (GRCm39) |
M73K |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,331 (GRCm39) |
*172Q |
probably null |
Het |
| Or6c3b |
T |
C |
10: 129,527,220 (GRCm39) |
N230S |
probably benign |
Het |
| Pask |
T |
A |
1: 93,248,391 (GRCm39) |
Q970L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,840,308 (GRCm39) |
I308T |
possibly damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,114,617 (GRCm39) |
L38Q |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,775 (GRCm39) |
T349A |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,400 (GRCm39) |
I551T |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,317 (GRCm39) |
N144S |
possibly damaging |
Het |
| Prss56 |
A |
G |
1: 87,113,123 (GRCm39) |
N179S |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,097,250 (GRCm39) |
L918P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,097 (GRCm39) |
T729I |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,662,308 (GRCm39) |
H942Q |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,006,071 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,431,498 (GRCm39) |
Y299H |
probably damaging |
Het |
| Spaca3 |
G |
T |
11: 80,754,847 (GRCm39) |
R96L |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,188,081 (GRCm39) |
N495S |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,270 (GRCm39) |
N175S |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tdrd12 |
C |
A |
7: 35,179,561 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,949,837 (GRCm39) |
N604S |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,055,454 (GRCm39) |
F1482L |
probably benign |
Het |
| Trhr2 |
A |
T |
8: 123,087,114 (GRCm39) |
S109T |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,678,562 (GRCm39) |
M841K |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,347,173 (GRCm39) |
M3138K |
probably benign |
Het |
| Zdhhc4 |
G |
A |
5: 143,307,646 (GRCm39) |
T125I |
probably benign |
Het |
| Zfp239 |
T |
A |
6: 117,848,716 (GRCm39) |
C151* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,382,627 (GRCm39) |
E569K |
not run |
Het |
| Zzef1 |
T |
A |
11: 72,777,516 (GRCm39) |
D1782E |
probably damaging |
Het |
|
| Other mutations in Abcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Abcc3
|
APN |
11 |
94,234,611 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:Abcc3
|
APN |
11 |
94,250,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL01353:Abcc3
|
APN |
11 |
94,242,934 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02553:Abcc3
|
APN |
11 |
94,242,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Abcc3
|
APN |
11 |
94,252,468 (GRCm39) |
splice site |
probably benign |
|
|
IGL02928:Abcc3
|
APN |
11 |
94,252,132 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02964:Abcc3
|
APN |
11 |
94,242,636 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03006:Abcc3
|
APN |
11 |
94,259,421 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03345:Abcc3
|
APN |
11 |
94,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Abcc3
|
UTSW |
11 |
94,245,900 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0377:Abcc3
|
UTSW |
11 |
94,265,922 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0812:Abcc3
|
UTSW |
11 |
94,266,028 (GRCm39) |
splice site |
probably benign |
|
|
R1269:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1375:Abcc3
|
UTSW |
11 |
94,243,042 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1506:Abcc3
|
UTSW |
11 |
94,248,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1525:Abcc3
|
UTSW |
11 |
94,252,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1842:Abcc3
|
UTSW |
11 |
94,250,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1868:Abcc3
|
UTSW |
11 |
94,254,889 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2069:Abcc3
|
UTSW |
11 |
94,255,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Abcc3
|
UTSW |
11 |
94,258,426 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2257:Abcc3
|
UTSW |
11 |
94,254,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2930:Abcc3
|
UTSW |
11 |
94,252,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3081:Abcc3
|
UTSW |
11 |
94,247,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Abcc3
|
UTSW |
11 |
94,259,446 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4385:Abcc3
|
UTSW |
11 |
94,259,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4425:Abcc3
|
UTSW |
11 |
94,236,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4464:Abcc3
|
UTSW |
11 |
94,249,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4696:Abcc3
|
UTSW |
11 |
94,241,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4877:Abcc3
|
UTSW |
11 |
94,258,421 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5172:Abcc3
|
UTSW |
11 |
94,266,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Abcc3
|
UTSW |
11 |
94,255,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Abcc3
|
UTSW |
11 |
94,283,723 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5719:Abcc3
|
UTSW |
11 |
94,241,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Abcc3
|
UTSW |
11 |
94,234,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6222:Abcc3
|
UTSW |
11 |
94,259,431 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6264:Abcc3
|
UTSW |
11 |
94,264,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Abcc3
|
UTSW |
11 |
94,250,198 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6782:Abcc3
|
UTSW |
11 |
94,249,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Abcc3
|
UTSW |
11 |
94,266,381 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6953:Abcc3
|
UTSW |
11 |
94,265,661 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7054:Abcc3
|
UTSW |
11 |
94,256,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Abcc3
|
UTSW |
11 |
94,255,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Abcc3
|
UTSW |
11 |
94,264,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7283:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7285:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7287:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7320:Abcc3
|
UTSW |
11 |
94,258,471 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7450:Abcc3
|
UTSW |
11 |
94,252,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Abcc3
|
UTSW |
11 |
94,259,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Abcc3
|
UTSW |
11 |
94,249,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7851:Abcc3
|
UTSW |
11 |
94,250,486 (GRCm39) |
nonsense |
probably null |
|
|
R7861:Abcc3
|
UTSW |
11 |
94,248,075 (GRCm39) |
missense |
probably null |
1.00 |
|
R8036:Abcc3
|
UTSW |
11 |
94,236,818 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8214:Abcc3
|
UTSW |
11 |
94,254,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8447:Abcc3
|
UTSW |
11 |
94,254,886 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8558:Abcc3
|
UTSW |
11 |
94,242,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8733:Abcc3
|
UTSW |
11 |
94,249,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8821:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Abcc3
|
UTSW |
11 |
94,255,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9315:Abcc3
|
UTSW |
11 |
94,265,576 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9519:Abcc3
|
UTSW |
11 |
94,264,805 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9658:Abcc3
|
UTSW |
11 |
94,263,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9686:Abcc3
|
UTSW |
11 |
94,247,867 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9722:Abcc3
|
UTSW |
11 |
94,250,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Abcc3
|
UTSW |
11 |
94,250,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:Abcc3
|
UTSW |
11 |
94,254,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Abcc3
|
UTSW |
11 |
94,252,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Abcc3
|
UTSW |
11 |
94,247,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTTTGAGAACCCAGCTG -3'
(R):5'- TACTAAGGTGGACAACAACCAG -3'
Sequencing Primer
(F):5'- CTCAGCCAATGCTGGTTA -3'
(R):5'- GAAAAGCAGTTATCCCTACATTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation