Incidental Mutation 'R8036:Abcc3'
ID |
618256 |
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 |
067473-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8036 (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 94236818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1473
(V1473A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000107818]
[ENSMUST00000178136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021231
AA Change: V1472A
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: V1472A
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: ENSMUST00000107818
|
SMART Domains |
Protein: ENSMUSP00000103448 Gene: ENSMUSG00000020864
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
7.29e2 |
SMART |
ANK
|
43 |
72 |
3.57e-6 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
low complexity region
|
234 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178136
AA Change: V1473A
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: V1473A
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (53/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
A |
5: 4,120,397 (GRCm39) |
C3604* |
probably null |
Het |
Alas1 |
A |
G |
9: 106,112,721 (GRCm39) |
I545T |
probably benign |
Het |
Anpep |
A |
C |
7: 79,491,646 (GRCm39) |
D118E |
probably benign |
Het |
Arhgef17 |
A |
T |
7: 100,579,062 (GRCm39) |
S629T |
probably damaging |
Het |
Arid2 |
C |
T |
15: 96,266,625 (GRCm39) |
R558C |
probably damaging |
Het |
Camk2n1 |
A |
G |
4: 138,184,056 (GRCm39) |
D65G |
probably damaging |
Het |
Ccdc177 |
T |
C |
12: 80,804,897 (GRCm39) |
N459S |
unknown |
Het |
Cenpe |
ACTCTCT |
ACTCT |
3: 134,945,609 (GRCm39) |
|
probably null |
Het |
Crb1 |
T |
C |
1: 139,165,122 (GRCm39) |
I1062V |
probably benign |
Het |
Decr2 |
A |
G |
17: 26,301,962 (GRCm39) |
L256P |
probably damaging |
Het |
Dhx37 |
T |
C |
5: 125,501,739 (GRCm39) |
M507V |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,870,803 (GRCm39) |
I539T |
probably damaging |
Het |
Dqx1 |
T |
A |
6: 83,036,788 (GRCm39) |
V264E |
probably damaging |
Het |
Enpp4 |
A |
G |
17: 44,413,136 (GRCm39) |
S133P |
possibly damaging |
Het |
Fam149a |
T |
C |
8: 45,802,048 (GRCm39) |
T476A |
probably benign |
Het |
Fam20b |
A |
G |
1: 156,533,407 (GRCm39) |
W70R |
probably damaging |
Het |
Fbxl13 |
T |
A |
5: 21,728,566 (GRCm39) |
N508Y |
probably damaging |
Het |
Fjx1 |
A |
G |
2: 102,280,720 (GRCm39) |
L405P |
probably damaging |
Het |
Fn1 |
G |
A |
1: 71,629,310 (GRCm39) |
Q2399* |
probably null |
Het |
Foxa2 |
G |
C |
2: 147,885,909 (GRCm39) |
T308S |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gm10521 |
A |
G |
1: 171,723,752 (GRCm39) |
D21G |
unknown |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Herpud1 |
A |
G |
8: 95,119,014 (GRCm39) |
E256G |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Kctd13 |
A |
G |
7: 126,528,414 (GRCm39) |
D63G |
possibly damaging |
Het |
Lamp3 |
C |
A |
16: 19,519,809 (GRCm39) |
D125Y |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,724,823 (GRCm39) |
D128G |
probably damaging |
Het |
Lyve1 |
A |
G |
7: 110,458,649 (GRCm39) |
C105R |
probably damaging |
Het |
Mlkl |
A |
T |
8: 112,060,086 (GRCm39) |
V100E |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,421,478 (GRCm39) |
S4323P |
possibly damaging |
Het |
Myoz3 |
T |
G |
18: 60,713,922 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,070,864 (GRCm39) |
N906Y |
possibly damaging |
Het |
Odad1 |
A |
G |
7: 45,592,276 (GRCm39) |
D352G |
probably benign |
Het |
Or10x4 |
A |
G |
1: 174,219,382 (GRCm39) |
H249R |
probably damaging |
Het |
Or51f23 |
A |
T |
7: 102,452,763 (GRCm39) |
H26L |
possibly damaging |
Het |
Or8b49 |
T |
C |
9: 38,506,186 (GRCm39) |
F223S |
probably benign |
Het |
Or8w1 |
C |
T |
2: 87,465,847 (GRCm39) |
M81I |
probably benign |
Het |
Pcsk9 |
G |
A |
4: 106,311,536 (GRCm39) |
H232Y |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,063,380 (GRCm39) |
I2230T |
possibly damaging |
Het |
Pou2f3 |
T |
A |
9: 43,058,205 (GRCm39) |
T47S |
probably damaging |
Het |
Rab8a |
A |
T |
8: 72,928,439 (GRCm39) |
I106F |
probably damaging |
Het |
Relch |
A |
T |
1: 105,605,902 (GRCm39) |
I181F |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,041,439 (GRCm39) |
S295T |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,992,098 (GRCm39) |
N222K |
possibly damaging |
Het |
Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
Spata20 |
T |
G |
11: 94,369,963 (GRCm39) |
I778L |
probably benign |
Het |
Taar1 |
A |
T |
10: 23,797,033 (GRCm39) |
T244S |
probably benign |
Het |
Tmem229b |
C |
A |
12: 79,011,862 (GRCm39) |
C23F |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,718,389 (GRCm39) |
Y80C |
probably benign |
Het |
Ube2m |
G |
A |
7: 12,769,566 (GRCm39) |
T176I |
probably benign |
Het |
Zfp790 |
G |
A |
7: 29,528,346 (GRCm39) |
A344T |
possibly damaging |
Het |
Zfp90 |
G |
A |
8: 107,145,760 (GRCm39) |
V31M |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,949,918 (GRCm39) |
R659Q |
probably benign |
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 |
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'- ACACTGTACTCGAAGCTTGG -3'
(R):5'- TAGTCTGGAAGATAGCCTGGGC -3'
Sequencing Primer
(F):5'- ACTCGAAGCTTGGGAATTCC -3'
(R):5'- GGCACCTAGCTGAAAACTCCTG -3'
|
Posted On |
2020-01-23 |