Incidental Mutation 'R7861:Abcc3'
ID |
607532 |
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 |
045914-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7861 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94248075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1175
(D1175G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000021231
AA Change: D1174G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: D1174G
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 null
Transcript: ENSMUST00000178136
AA Change: D1175G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: D1175G
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: 99.2%
|
Validation Efficiency |
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,797,360 (GRCm39) |
I50F |
possibly damaging |
Het |
Accs |
C |
A |
2: 93,666,077 (GRCm39) |
*503L |
probably null |
Het |
Adgra2 |
A |
G |
8: 27,604,485 (GRCm39) |
E520G |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,681,525 (GRCm39) |
C215F |
probably benign |
Het |
Apbb1ip |
A |
C |
2: 22,706,990 (GRCm39) |
D9A |
unknown |
Het |
Atad2 |
G |
A |
15: 57,989,176 (GRCm39) |
A228V |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,438,107 (GRCm39) |
S430P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,700,573 (GRCm39) |
D6G |
unknown |
Het |
Brca1 |
A |
T |
11: 101,417,248 (GRCm39) |
N295K |
possibly damaging |
Het |
Caly |
C |
A |
7: 139,661,301 (GRCm39) |
|
probably benign |
Het |
Ces1h |
A |
G |
8: 94,084,053 (GRCm39) |
Y386H |
unknown |
Het |
Col14a1 |
A |
G |
15: 55,308,012 (GRCm39) |
D1044G |
unknown |
Het |
Csf2rb |
A |
G |
15: 78,233,357 (GRCm39) |
D888G |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
Dhrs7b |
T |
A |
11: 60,746,568 (GRCm39) |
L219Q |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dnah14 |
C |
T |
1: 181,444,324 (GRCm39) |
P545S |
probably damaging |
Het |
Dnajc24 |
A |
T |
2: 105,832,380 (GRCm39) |
M1K |
probably null |
Het |
Dusp12 |
C |
T |
1: 170,702,095 (GRCm39) |
W301* |
probably null |
Het |
Dyrk1a |
G |
T |
16: 94,492,575 (GRCm39) |
G603* |
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,498,452 (GRCm39) |
V403E |
probably benign |
Het |
Epn3 |
T |
C |
11: 94,387,100 (GRCm39) |
E90G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,810,721 (GRCm39) |
S1303G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,118,895 (GRCm39) |
Y627N |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,493,625 (GRCm39) |
L22* |
probably null |
Het |
Fcamr |
T |
A |
1: 130,742,375 (GRCm39) |
N587K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,939,193 (GRCm39) |
N946S |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,523,148 (GRCm39) |
I477N |
possibly damaging |
Het |
Grifin |
C |
T |
5: 140,550,280 (GRCm39) |
A54T |
probably benign |
Het |
Gtf2b |
A |
G |
3: 142,487,105 (GRCm39) |
I180M |
probably damaging |
Het |
Invs |
A |
T |
4: 48,397,559 (GRCm39) |
D378V |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,458,788 (GRCm39) |
E378G |
probably damaging |
Het |
Khdc1a |
T |
C |
1: 21,420,623 (GRCm39) |
I81T |
possibly damaging |
Het |
Kif20b |
T |
A |
19: 34,917,322 (GRCm39) |
D617E |
probably damaging |
Het |
Kifc3 |
T |
A |
8: 95,834,165 (GRCm39) |
|
probably null |
Het |
Kirrel3 |
C |
T |
9: 34,931,419 (GRCm39) |
H403Y |
possibly damaging |
Het |
Klf15 |
G |
A |
6: 90,443,820 (GRCm39) |
V132I |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,730,031 (GRCm39) |
S3429P |
unknown |
Het |
Lama1 |
T |
G |
17: 68,116,216 (GRCm39) |
L2361R |
|
Het |
Lrp1b |
T |
C |
2: 40,587,570 (GRCm39) |
D3895G |
|
Het |
Mcoln3 |
A |
C |
3: 145,830,546 (GRCm39) |
E92A |
possibly damaging |
Het |
Myo3b |
T |
C |
2: 69,939,032 (GRCm39) |
M135T |
probably damaging |
Het |
Mysm1 |
A |
G |
4: 94,835,204 (GRCm39) |
*820Q |
probably null |
Het |
Ncoa7 |
A |
G |
10: 30,567,056 (GRCm39) |
S541P |
probably benign |
Het |
Nup54 |
T |
C |
5: 92,578,952 (GRCm39) |
T33A |
unknown |
Het |
Or10al2 |
C |
A |
17: 37,983,408 (GRCm39) |
Q165K |
possibly damaging |
Het |
Or13a17 |
T |
G |
7: 140,271,484 (GRCm39) |
I222S |
probably damaging |
Het |
Or1s2 |
T |
C |
19: 13,758,810 (GRCm39) |
V276A |
possibly damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,369 (GRCm39) |
I45F |
probably damaging |
Het |
Or51a5 |
T |
A |
7: 102,771,899 (GRCm39) |
I27F |
probably benign |
Het |
Otud6b |
A |
G |
4: 14,826,414 (GRCm39) |
C18R |
probably benign |
Het |
Pde4d |
A |
G |
13: 110,071,858 (GRCm39) |
E284G |
probably damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,020,055 (GRCm39) |
W598L |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,847,543 (GRCm39) |
C49S |
probably damaging |
Het |
Pramel11 |
T |
C |
4: 143,624,288 (GRCm39) |
M70V |
possibly damaging |
Het |
Prdx1 |
T |
G |
4: 116,550,935 (GRCm39) |
D135E |
probably benign |
Het |
Rab15 |
T |
A |
12: 76,849,903 (GRCm39) |
Y88F |
probably damaging |
Het |
Rem2 |
C |
A |
14: 54,715,256 (GRCm39) |
H144Q |
probably damaging |
Het |
Sel1l3 |
T |
C |
5: 53,301,406 (GRCm39) |
D737G |
probably damaging |
Het |
Srd5a3 |
C |
T |
5: 76,295,666 (GRCm39) |
Q119* |
probably null |
Het |
Suclg2 |
G |
T |
6: 95,571,703 (GRCm39) |
Q120K |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,161 (GRCm39) |
M1282K |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,063,720 (GRCm39) |
Q620L |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,709,590 (GRCm39) |
A91S |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,087,435 (GRCm39) |
F1184Y |
probably benign |
Het |
Trim28 |
T |
A |
7: 12,762,339 (GRCm39) |
V321E |
possibly damaging |
Het |
Trim5 |
C |
A |
7: 103,915,675 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
A |
T |
5: 87,390,299 (GRCm39) |
Y382* |
probably null |
Het |
Usp40 |
C |
T |
1: 87,909,852 (GRCm39) |
G534D |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,728,112 (GRCm39) |
H823Q |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,235,829 (GRCm39) |
M508L |
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,449,351 (GRCm39) |
I296F |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,632,668 (GRCm39) |
S2563G |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,220,912 (GRCm39) |
F207L |
|
Het |
Zan |
A |
G |
5: 137,405,295 (GRCm39) |
S3777P |
unknown |
Het |
Zfp277 |
T |
C |
12: 40,365,880 (GRCm39) |
N530D |
possibly damaging |
Het |
Zfp365 |
G |
A |
10: 67,745,749 (GRCm39) |
R10W |
probably damaging |
Het |
Zfp384 |
A |
T |
6: 125,013,288 (GRCm39) |
H452L |
probably damaging |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,374,487 (GRCm39) |
L509Q |
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 |
|
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'- AAGCTGTTTCTCCCGATCAC -3'
(R):5'- GCTGGATGACATTCCTGACTG -3'
Sequencing Primer
(F):5'- GTTTCTCCCGATCACTGCAAAC -3'
(R):5'- GACTGGAGTTCTCTTCCTATCCCTG -3'
|
Posted On |
2019-12-20 |