Incidental Mutation 'R6526:Abcc3'
| ID |
521902 |
| 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 |
044652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6526 (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 94250198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 975
(G975D)
|
| 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: G974D
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: G974D
| 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: ENSMUST00000155253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: G975D
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: G975D
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,331 (GRCm39) |
|
probably null |
Het |
| Abhd13 |
G |
A |
8: 10,037,777 (GRCm39) |
G125S |
probably damaging |
Het |
| Ache |
T |
A |
5: 137,288,906 (GRCm39) |
L204Q |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,383,497 (GRCm39) |
S19P |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,638 (GRCm39) |
Y216H |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,514,055 (GRCm39) |
K429* |
probably null |
Het |
| Anxa13 |
T |
C |
15: 58,208,353 (GRCm39) |
|
noncoding transcript |
Het |
| Aprt |
A |
C |
8: 123,303,555 (GRCm39) |
L6W |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,840,820 (GRCm39) |
T569A |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,914,999 (GRCm39) |
L1139P |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,639,467 (GRCm39) |
S1136P |
probably damaging |
Het |
| B9d1 |
T |
A |
11: 61,399,923 (GRCm39) |
Y90* |
probably null |
Het |
| Btla |
G |
A |
16: 45,059,457 (GRCm39) |
A54T |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,358 (GRCm39) |
V35A |
probably benign |
Het |
| Chek2 |
T |
C |
5: 110,996,556 (GRCm39) |
F173L |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,929,702 (GRCm39) |
N499I |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,418 (GRCm39) |
L738P |
probably damaging |
Het |
| Cops6 |
T |
C |
5: 138,162,162 (GRCm39) |
|
probably null |
Het |
| Cpeb1 |
T |
A |
7: 81,011,417 (GRCm39) |
I175F |
probably benign |
Het |
| Cyp3a16 |
C |
T |
5: 145,392,705 (GRCm39) |
D174N |
probably benign |
Het |
| Dnah6 |
T |
G |
6: 73,051,687 (GRCm39) |
I2984L |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,564,068 (GRCm39) |
I540N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,269,578 (GRCm39) |
Y53C |
probably damaging |
Het |
| Elmod2 |
T |
C |
8: 84,046,086 (GRCm39) |
T164A |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,798,812 (GRCm39) |
|
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,758 (GRCm39) |
|
probably null |
Het |
| Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
| Gm11115 |
T |
A |
5: 88,301,909 (GRCm39) |
|
probably null |
Het |
| Golga3 |
T |
A |
5: 110,352,761 (GRCm39) |
I884N |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,599,776 (GRCm39) |
F703I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtpbp2 |
A |
T |
17: 46,475,037 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,078 (GRCm39) |
S2419P |
probably damaging |
Het |
| Inpp5d |
T |
C |
1: 87,603,972 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,099,532 (GRCm39) |
V136F |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,839 (GRCm39) |
D234V |
probably benign |
Het |
| Lct |
A |
T |
1: 128,228,215 (GRCm39) |
S1093T |
probably benign |
Het |
| Marchf9 |
A |
G |
10: 126,892,558 (GRCm39) |
L310P |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,407,487 (GRCm39) |
E668* |
probably null |
Het |
| Nbas |
A |
T |
12: 13,455,426 (GRCm39) |
L1213F |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,516,873 (GRCm39) |
T397A |
possibly damaging |
Het |
| Oit3 |
A |
G |
10: 59,265,462 (GRCm39) |
C268R |
probably damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,669 (GRCm39) |
T22A |
probably benign |
Het |
| Pcx |
T |
C |
19: 4,654,523 (GRCm39) |
F312L |
probably benign |
Het |
| Pitx2 |
T |
C |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,485 (GRCm39) |
|
probably null |
Het |
| Polr1a |
C |
A |
6: 71,906,427 (GRCm39) |
D414E |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,384 (GRCm39) |
D323G |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,549 (GRCm39) |
Y381H |
probably damaging |
Het |
| Ptger3 |
T |
A |
3: 157,273,139 (GRCm39) |
V162E |
probably damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,360,726 (GRCm39) |
M332R |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,378,514 (GRCm39) |
S2009* |
probably null |
Het |
| Pwwp3a |
A |
G |
10: 80,068,113 (GRCm39) |
T86A |
probably benign |
Het |
| Rangrf |
C |
T |
11: 68,864,514 (GRCm39) |
G11R |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,823,467 (GRCm39) |
Q465L |
probably benign |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,380 (GRCm39) |
M88L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,361,785 (GRCm39) |
M13I |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,444,080 (GRCm39) |
Y384C |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,097,611 (GRCm39) |
G439S |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,768,887 (GRCm39) |
I239N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,461,509 (GRCm39) |
C1502S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,552,119 (GRCm39) |
E888K |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,088 (GRCm39) |
R62L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,331 (GRCm39) |
V777A |
possibly damaging |
Het |
| Trmt13 |
T |
A |
3: 116,385,864 (GRCm39) |
N31I |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,720 (GRCm39) |
E893K |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,693,343 (GRCm39) |
F197S |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,598 (GRCm39) |
N287K |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,098 (GRCm39) |
M265K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,546 (GRCm39) |
C937F |
probably damaging |
Het |
| Zfp846 |
T |
A |
9: 20,505,167 (GRCm39) |
N342K |
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 |
|
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'- AGGTTCTGAGACAGGGGTAT -3'
(R):5'- AGGAGACTGGCGCATTAATCA -3'
Sequencing Primer
(F):5'- CTTGGGGAGTGGGCAGAG -3'
(R):5'- CTGGCGCATTAATCAAAGAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation