Incidental Mutation 'R0812:Abcc3'
ID |
78487 |
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 |
038992-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0812 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 94266028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865
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 |
noncoding transcript
Transcript: ENSMUST00000126566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151124
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.8%
- 20x: 91.7%
|
Validation Efficiency |
96% (52/54) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,763,229 (GRCm39) |
S586P |
probably damaging |
Het |
Ap5z1 |
G |
A |
5: 142,461,546 (GRCm39) |
R583H |
probably benign |
Het |
Arrb1 |
G |
T |
7: 99,247,708 (GRCm39) |
V346L |
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,661,573 (GRCm39) |
F518I |
probably benign |
Het |
Bank1 |
T |
A |
3: 135,799,127 (GRCm39) |
I405F |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,607,224 (GRCm39) |
C1227R |
probably benign |
Het |
Cacna1h |
A |
G |
17: 25,607,602 (GRCm39) |
L905P |
probably damaging |
Het |
Cc2d1a |
A |
G |
8: 84,860,465 (GRCm39) |
Y826H |
probably benign |
Het |
Cenpo |
A |
G |
12: 4,266,643 (GRCm39) |
V155A |
probably benign |
Het |
Cnmd |
A |
G |
14: 79,898,863 (GRCm39) |
F63S |
probably damaging |
Het |
Cnn3 |
G |
A |
3: 121,248,600 (GRCm39) |
G72D |
probably damaging |
Het |
Cox10 |
A |
G |
11: 63,962,539 (GRCm39) |
S101P |
probably benign |
Het |
Ctdsp1 |
T |
C |
1: 74,433,806 (GRCm39) |
V129A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
Dennd5a |
G |
A |
7: 109,532,820 (GRCm39) |
H317Y |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,555,334 (GRCm39) |
F858S |
probably damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Enox1 |
T |
A |
14: 77,819,876 (GRCm39) |
D210E |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,198,464 (GRCm39) |
N190S |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,144,459 (GRCm39) |
K4138N |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,011,623 (GRCm39) |
D2241V |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,245,090 (GRCm39) |
V266I |
possibly damaging |
Het |
Foxf2 |
T |
A |
13: 31,811,188 (GRCm39) |
Y376N |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,900,857 (GRCm39) |
S3025R |
probably benign |
Het |
Gba1 |
T |
C |
3: 89,111,307 (GRCm39) |
I24T |
probably benign |
Het |
Gdpd5 |
A |
G |
7: 99,087,540 (GRCm39) |
D68G |
probably damaging |
Het |
Grid1 |
G |
A |
14: 34,544,576 (GRCm39) |
S49N |
probably benign |
Het |
Grtp1 |
T |
C |
8: 13,229,639 (GRCm39) |
T250A |
possibly damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,945,295 (GRCm39) |
N448D |
probably benign |
Het |
H2-Ob |
A |
G |
17: 34,463,100 (GRCm39) |
|
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,730,795 (GRCm39) |
M1V |
probably null |
Het |
Hmcn2 |
G |
A |
2: 31,310,383 (GRCm39) |
A3326T |
probably damaging |
Het |
Impg2 |
TACCACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCACCA |
16: 56,078,302 (GRCm39) |
|
probably benign |
Het |
Ippk |
C |
A |
13: 49,596,947 (GRCm39) |
Q254K |
probably damaging |
Het |
Itga2 |
A |
T |
13: 115,007,150 (GRCm39) |
L393I |
possibly damaging |
Het |
Kcna10 |
A |
T |
3: 107,102,575 (GRCm39) |
E402V |
possibly damaging |
Het |
Kcnab1 |
G |
A |
3: 65,205,141 (GRCm39) |
D119N |
probably damaging |
Het |
Kcnip4 |
T |
A |
5: 48,567,202 (GRCm39) |
T122S |
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
Klhl22 |
T |
A |
16: 17,610,453 (GRCm39) |
M568K |
probably benign |
Het |
Krt6a |
C |
T |
15: 101,601,183 (GRCm39) |
V257M |
probably damaging |
Het |
Ksr2 |
A |
C |
5: 117,693,290 (GRCm39) |
H246P |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,281,806 (GRCm39) |
D326G |
possibly damaging |
Het |
Lcp1 |
A |
G |
14: 75,451,928 (GRCm39) |
E393G |
probably benign |
Het |
Leo1 |
G |
A |
9: 75,352,831 (GRCm39) |
E125K |
probably benign |
Het |
Lipt1 |
T |
A |
1: 37,914,382 (GRCm39) |
V146E |
probably damaging |
Het |
Mael |
A |
T |
1: 166,062,968 (GRCm39) |
|
probably null |
Het |
Mga |
C |
T |
2: 119,778,442 (GRCm39) |
L1996F |
probably damaging |
Het |
Mllt6 |
A |
G |
11: 97,569,387 (GRCm39) |
N913S |
probably damaging |
Het |
Mphosph9 |
A |
C |
5: 124,436,822 (GRCm39) |
D507E |
probably damaging |
Het |
Mvp |
G |
A |
7: 126,586,728 (GRCm39) |
A801V |
probably benign |
Het |
Ndrg2 |
A |
G |
14: 52,146,119 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,182,707 (GRCm39) |
D1053G |
possibly damaging |
Het |
Nubp1 |
C |
A |
16: 10,231,585 (GRCm39) |
L79I |
probably benign |
Het |
Or1e1f |
G |
A |
11: 73,856,246 (GRCm39) |
E271K |
probably benign |
Het |
Or1o2 |
A |
C |
17: 37,543,223 (GRCm39) |
L13V |
probably benign |
Het |
Or8d2 |
G |
A |
9: 38,759,805 (GRCm39) |
V132I |
probably benign |
Het |
Pnpla8 |
G |
A |
12: 44,330,188 (GRCm39) |
V29M |
probably benign |
Het |
Psmb2 |
T |
A |
4: 126,601,350 (GRCm39) |
I151N |
possibly damaging |
Het |
Ptgs2 |
C |
T |
1: 149,977,105 (GRCm39) |
T104I |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,345,077 (GRCm39) |
T28A |
probably benign |
Het |
Raf1 |
A |
G |
6: 115,603,671 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
C |
10: 58,301,351 (GRCm39) |
M668T |
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,641,760 (GRCm39) |
|
probably null |
Het |
Rhag |
A |
T |
17: 41,142,469 (GRCm39) |
T225S |
possibly damaging |
Het |
Rhof |
A |
C |
5: 123,269,950 (GRCm39) |
L69R |
probably damaging |
Het |
Slc24a5 |
T |
C |
2: 124,910,724 (GRCm39) |
S52P |
probably damaging |
Het |
Slc8a2 |
T |
C |
7: 15,875,039 (GRCm39) |
V429A |
probably damaging |
Het |
Slfn10-ps |
G |
A |
11: 82,926,388 (GRCm39) |
|
noncoding transcript |
Het |
Spam1 |
G |
A |
6: 24,796,886 (GRCm39) |
R279H |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,620,588 (GRCm39) |
D102G |
probably damaging |
Het |
Srrm3 |
A |
C |
5: 135,902,136 (GRCm39) |
|
probably benign |
Het |
Tk1 |
T |
C |
11: 117,712,933 (GRCm39) |
E98G |
probably damaging |
Het |
Trim13 |
G |
A |
14: 61,843,149 (GRCm39) |
V389I |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,383,366 (GRCm39) |
Y1289F |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ugt1a10 |
T |
A |
1: 87,983,904 (GRCm39) |
V234D |
probably benign |
Het |
Vmn2r18 |
C |
A |
5: 151,496,395 (GRCm39) |
|
probably benign |
Het |
Vmn2r75 |
C |
T |
7: 85,814,575 (GRCm39) |
G306E |
probably benign |
Het |
Vmn2r86 |
C |
T |
10: 130,289,497 (GRCm39) |
V133I |
probably benign |
Het |
Vps13c |
C |
A |
9: 67,841,758 (GRCm39) |
Q1927K |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp219 |
T |
A |
14: 52,244,395 (GRCm39) |
T550S |
probably benign |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp507 |
G |
A |
7: 35,502,048 (GRCm39) |
|
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,552 (GRCm39) |
F350L |
possibly 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 |
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 |
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'- TGACAACTGCCATGTGTCCACC -3'
(R):5'- GTTATCCAGGCTCAAGACGGTCAG -3'
Sequencing Primer
(F):5'- TGGTCGTAGCATACCCTACAG -3'
(R):5'- CCCCATAGTTCTGGGCTATAGAAG -3'
|
Posted On |
2013-10-16 |