Incidental Mutation 'R9187:Abcc3'
| ID |
697462 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94255913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 524
(L524P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021231
AA Change: L524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: L524P
| 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 damaging
Transcript: ENSMUST00000178136
AA Change: L524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: L524P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (70/72) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,200,961 (GRCm39) |
|
probably null |
Het |
| Abcb1a |
T |
A |
5: 8,765,016 (GRCm39) |
C669S |
probably benign |
Het |
| Akap5 |
A |
T |
12: 76,376,745 (GRCm39) |
K726* |
probably null |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,441 (GRCm39) |
E778G |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Apon |
A |
G |
10: 128,090,832 (GRCm39) |
N170S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,217,764 (GRCm39) |
Y274C |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,656,856 (GRCm39) |
N425K |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,820,028 (GRCm39) |
C1487R |
probably damaging |
Het |
| Cd4 |
A |
C |
6: 124,844,651 (GRCm39) |
V378G |
probably damaging |
Het |
| Cenpa |
C |
A |
5: 30,824,380 (GRCm39) |
P3Q |
unknown |
Het |
| Cfap44 |
T |
C |
16: 44,225,144 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,956,517 (GRCm39) |
M1021L |
probably benign |
Het |
| Ddx39a |
G |
T |
8: 84,449,113 (GRCm39) |
M300I |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,832,601 (GRCm39) |
R819G |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,405,786 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,895,972 (GRCm39) |
W2468R |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,706 (GRCm39) |
K177I |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,101,184 (GRCm39) |
I249V |
probably damaging |
Het |
| Fam171b |
T |
C |
2: 83,710,365 (GRCm39) |
V679A |
probably damaging |
Het |
| Gabbr2 |
G |
A |
4: 46,674,533 (GRCm39) |
T818I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,752,177 (GRCm39) |
S2098P |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,302,991 (GRCm39) |
I609T |
probably damaging |
Het |
| Gm5916 |
T |
G |
9: 36,032,020 (GRCm39) |
H88P |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,786,618 (GRCm39) |
S586P |
probably benign |
Het |
| Gzmg |
T |
A |
14: 56,394,714 (GRCm39) |
T185S |
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,276,936 (GRCm39) |
D381V |
probably damaging |
Het |
| Hnrnpul2 |
C |
A |
19: 8,808,319 (GRCm39) |
N681K |
probably benign |
Het |
| Hpdl |
C |
A |
4: 116,678,372 (GRCm39) |
G30C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Krt82 |
C |
A |
15: 101,450,260 (GRCm39) |
V479L |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,924,124 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,097,434 (GRCm39) |
E1537* |
probably null |
Het |
| Mab21l3 |
G |
A |
3: 101,730,594 (GRCm39) |
T215M |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,923,073 (GRCm39) |
V1215F |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,902,797 (GRCm39) |
C89* |
probably null |
Het |
| Mitf |
T |
A |
6: 97,994,835 (GRCm39) |
V427D |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,589,102 (GRCm39) |
V753A |
|
Het |
| Myo16 |
G |
A |
8: 10,492,233 (GRCm39) |
R725H |
unknown |
Het |
| Ncapg2 |
T |
A |
12: 116,402,287 (GRCm39) |
D706E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,824,268 (GRCm39) |
D803G |
probably benign |
Het |
| Neb |
A |
T |
2: 52,096,115 (GRCm39) |
V5065D |
probably damaging |
Het |
| Npm3 |
G |
A |
19: 45,737,941 (GRCm39) |
R19* |
probably null |
Het |
| Ntrk3 |
A |
C |
7: 77,896,966 (GRCm39) |
N690K |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,389,166 (GRCm39) |
I127V |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,495,950 (GRCm39) |
I39T |
probably benign |
Het |
| Or8d4 |
C |
A |
9: 40,038,886 (GRCm39) |
V124L |
possibly damaging |
Het |
| P3h2 |
G |
A |
16: 25,924,186 (GRCm39) |
A83V |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,415,910 (GRCm39) |
S362P |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,025,268 (GRCm39) |
H34Y |
probably benign |
Het |
| Pmp22 |
T |
C |
11: 63,025,317 (GRCm39) |
V50A |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,255,006 (GRCm39) |
D283G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,831,755 (GRCm39) |
V254A |
probably benign |
Het |
| Prss55 |
T |
A |
14: 64,314,531 (GRCm39) |
Q213L |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,669,613 (GRCm39) |
E258K |
possibly damaging |
Het |
| Ripor2 |
T |
C |
13: 24,897,632 (GRCm39) |
F777L |
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,711,362 (GRCm39) |
R173C |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,040,011 (GRCm39) |
M735R |
probably benign |
Het |
| Snrpd2 |
T |
A |
7: 18,886,505 (GRCm39) |
I96N |
probably damaging |
Het |
| Spryd3 |
T |
G |
15: 102,039,110 (GRCm39) |
D121A |
probably damaging |
Het |
| Srsf3-ps |
A |
G |
11: 98,516,187 (GRCm39) |
V62A |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,472,223 (GRCm39) |
C149R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,807,105 (GRCm39) |
M144K |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,779,485 (GRCm39) |
I66N |
probably damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,457 (GRCm39) |
T81A |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,249,902 (GRCm39) |
Y284C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,755 (GRCm39) |
T25713A |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,554 (GRCm39) |
W311R |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,438 (GRCm39) |
T755S |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,481 (GRCm39) |
C828R |
probably damaging |
Het |
| Wwox |
T |
C |
8: 115,438,978 (GRCm39) |
F348S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,637 (GRCm39) |
H630L |
probably damaging |
Het |
| Zfp764 |
G |
T |
7: 127,004,608 (GRCm39) |
H174Q |
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 |
|
R7284: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 |
|
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'- CCTGGATAACACGGGGAATG -3'
(R):5'- CTACAATAGATGGTCTGGTACGG -3'
Sequencing Primer
(F):5'- AATGAGTGTCATGGTGGAATTCCC -3'
(R):5'- CCCAGTGGATAGGAGGTCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation