Incidental Mutation 'R2257:Abcc3'
ID |
243474 |
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 |
040257-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 94254420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 693
(V693M)
|
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: V693M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: V693M
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: ENSMUST00000151124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155253
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178136
AA Change: V693M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: V693M
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 |
0.3982 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (70/73) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
A |
T |
X: 69,438,012 (GRCm39) |
W94R |
probably damaging |
Het |
Acp7 |
A |
C |
7: 28,313,838 (GRCm39) |
W399G |
probably damaging |
Het |
Ap1s1 |
T |
C |
5: 137,070,633 (GRCm39) |
Y94C |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,158,793 (GRCm39) |
I186T |
probably damaging |
Het |
Atg4a |
A |
G |
X: 139,890,984 (GRCm39) |
I91V |
probably benign |
Het |
Atp7b |
T |
G |
8: 22,488,282 (GRCm39) |
T1102P |
probably damaging |
Het |
Cabs1 |
T |
C |
5: 88,128,074 (GRCm39) |
S242P |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,390 (GRCm39) |
F493L |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 4,938,924 (GRCm39) |
M433L |
probably benign |
Het |
Cep162 |
C |
A |
9: 87,088,967 (GRCm39) |
D972Y |
probably damaging |
Het |
Cfap100 |
C |
G |
6: 90,390,802 (GRCm39) |
R184P |
possibly damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,320,510 (GRCm39) |
|
probably benign |
Het |
Copb1 |
T |
A |
7: 113,853,110 (GRCm39) |
D29V |
possibly damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,873,030 (GRCm39) |
|
probably null |
Het |
Dhx36 |
C |
T |
3: 62,385,064 (GRCm39) |
G683S |
probably damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,309,436 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,838,301 (GRCm39) |
I1110N |
probably damaging |
Het |
Dnajc3 |
C |
G |
14: 119,210,114 (GRCm39) |
P322A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,785,189 (GRCm39) |
T785A |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,787,775 (GRCm39) |
|
probably benign |
Het |
Fam83e |
A |
T |
7: 45,378,193 (GRCm39) |
K406* |
probably null |
Het |
Fam83e |
A |
T |
7: 45,378,194 (GRCm39) |
K406M |
possibly damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,533 (GRCm39) |
L296Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,403,408 (GRCm39) |
Y53C |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,928 (GRCm39) |
I22V |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,230,187 (GRCm39) |
N1657Y |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,503,307 (GRCm39) |
M453V |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 27,760,224 (GRCm39) |
C369S |
probably damaging |
Het |
Hdc |
G |
A |
2: 126,458,000 (GRCm39) |
|
probably null |
Het |
Hsf3 |
A |
T |
X: 95,363,928 (GRCm39) |
L191* |
probably null |
Het |
Iqca1l |
C |
T |
5: 24,757,038 (GRCm39) |
|
probably benign |
Het |
Kif4 |
A |
T |
X: 99,769,737 (GRCm39) |
N1126Y |
probably benign |
Het |
Lat2 |
T |
C |
5: 134,631,481 (GRCm39) |
D191G |
probably damaging |
Het |
Lipt2 |
C |
T |
7: 99,808,601 (GRCm39) |
T38I |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,137,566 (GRCm39) |
L634P |
probably damaging |
Het |
Magea2 |
A |
T |
X: 153,810,855 (GRCm39) |
L243Q |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,835,568 (GRCm39) |
L543P |
probably damaging |
Het |
Mgat4a |
T |
C |
1: 37,529,394 (GRCm39) |
N24D |
probably benign |
Het |
Mical3 |
A |
T |
6: 121,010,696 (GRCm39) |
S429T |
possibly damaging |
Het |
Mrps35 |
A |
G |
6: 146,972,125 (GRCm39) |
E256G |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,337,021 (GRCm39) |
S586T |
probably benign |
Het |
Myo1e |
G |
A |
9: 70,285,655 (GRCm39) |
|
probably null |
Het |
Nob1 |
A |
G |
8: 108,143,729 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
A |
5: 29,642,750 (GRCm39) |
V417D |
probably damaging |
Het |
Nphs1 |
A |
T |
7: 30,167,417 (GRCm39) |
I782F |
possibly damaging |
Het |
Numa1 |
A |
G |
7: 101,649,998 (GRCm39) |
E1243G |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,026 (GRCm39) |
Y207C |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,249,789 (GRCm39) |
E11G |
probably benign |
Het |
Padi4 |
G |
A |
4: 140,487,251 (GRCm39) |
T217I |
possibly damaging |
Het |
Pias3 |
C |
T |
3: 96,606,962 (GRCm39) |
T75I |
probably benign |
Het |
Ppp1r37 |
G |
T |
7: 19,295,943 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,380,044 (GRCm39) |
P185L |
unknown |
Het |
Prss57 |
C |
T |
10: 79,623,204 (GRCm39) |
C81Y |
probably damaging |
Het |
Psen1 |
C |
T |
12: 83,761,594 (GRCm39) |
S132L |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,788,949 (GRCm39) |
S468P |
possibly damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,610,542 (GRCm39) |
T86A |
probably damaging |
Het |
Slco1a6 |
A |
T |
6: 142,036,742 (GRCm39) |
M555K |
probably benign |
Het |
Thoc1 |
C |
A |
18: 9,993,466 (GRCm39) |
D608E |
possibly damaging |
Het |
Tmem121b |
A |
T |
6: 120,469,030 (GRCm39) |
Y562* |
probably null |
Het |
Tmem121b |
A |
G |
6: 120,469,032 (GRCm39) |
Y562H |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,506,696 (GRCm39) |
M122K |
possibly damaging |
Het |
Tmub1 |
C |
A |
5: 24,651,922 (GRCm39) |
G14V |
possibly damaging |
Het |
Uap1 |
A |
T |
1: 169,986,312 (GRCm39) |
|
probably benign |
Het |
Ugdh |
A |
T |
5: 65,574,458 (GRCm39) |
|
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,661,669 (GRCm39) |
C715* |
probably null |
Het |
Vps13a |
G |
A |
19: 16,659,538 (GRCm39) |
T1663I |
possibly damaging |
Het |
Vps13c |
A |
C |
9: 67,860,228 (GRCm39) |
I2815L |
possibly damaging |
Het |
Zc3h3 |
G |
T |
15: 75,711,415 (GRCm39) |
Q349K |
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 |
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 |
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'- GAATCTGAGATTGGGCTCTGGC -3'
(R):5'- AAGTCTTCTCTGGTGTCTGC -3'
Sequencing Primer
(F):5'- ATGAGAAGTTGGTTCCGTACCTTCTC -3'
(R):5'- GTGTCTGCCTTACTCGGAG -3'
|
Posted On |
2014-10-16 |