Incidental Mutation 'R7469:Abcc3'
ID |
579047 |
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 |
045543-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7469 (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 94259014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 443
(L443P)
|
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: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: L443P
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 damaging
Transcript: ENSMUST00000178136
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: L443P
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 |
0.9724 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (77/79) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
C |
2: 103,397,292 (GRCm39) |
V74A |
probably benign |
Het |
Adam5 |
A |
T |
8: 25,305,541 (GRCm39) |
F66I |
probably benign |
Het |
Aff1 |
T |
A |
5: 103,981,413 (GRCm39) |
D517E |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,791,349 (GRCm39) |
K559R |
probably damaging |
Het |
Aldh1l2 |
A |
C |
10: 83,343,969 (GRCm39) |
V482G |
probably damaging |
Het |
Ankra2 |
C |
T |
13: 98,402,882 (GRCm39) |
A43V |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,508,342 (GRCm39) |
V419F |
probably damaging |
Het |
Arhgef16 |
G |
A |
4: 154,375,763 (GRCm39) |
T77M |
probably damaging |
Het |
Best3 |
T |
C |
10: 116,840,290 (GRCm39) |
V240A |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,779,027 (GRCm39) |
Y413C |
probably damaging |
Het |
Bzw2 |
A |
T |
12: 36,157,550 (GRCm39) |
V305E |
probably damaging |
Het |
Cacng8 |
G |
A |
7: 3,463,621 (GRCm39) |
A258T |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,670,696 (GRCm39) |
Y184C |
probably damaging |
Het |
Chmp3 |
T |
A |
6: 71,556,652 (GRCm39) |
V184E |
possibly damaging |
Het |
Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
Ctdspl2 |
A |
T |
2: 121,837,362 (GRCm39) |
E376D |
possibly damaging |
Het |
Cyfip1 |
A |
G |
7: 55,527,468 (GRCm39) |
D200G |
possibly damaging |
Het |
Cylc2 |
T |
A |
4: 51,227,970 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
T |
A |
19: 39,172,307 (GRCm39) |
F407L |
probably damaging |
Het |
Dcp2 |
T |
C |
18: 44,529,019 (GRCm39) |
F45L |
probably damaging |
Het |
Dhx34 |
C |
T |
7: 15,950,364 (GRCm39) |
R268H |
probably benign |
Het |
Dnajc7 |
A |
T |
11: 100,482,377 (GRCm39) |
M205K |
probably benign |
Het |
Dzip3 |
C |
T |
16: 48,765,242 (GRCm39) |
V491M |
probably benign |
Het |
Farp1 |
T |
C |
14: 121,512,833 (GRCm39) |
L777P |
probably damaging |
Het |
Fchsd2 |
T |
G |
7: 100,927,863 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
A |
T |
15: 58,462,419 (GRCm39) |
|
probably null |
Het |
Fhip1a |
T |
C |
3: 85,580,069 (GRCm39) |
D712G |
probably benign |
Het |
Fitm2 |
A |
G |
2: 163,311,742 (GRCm39) |
F157S |
probably damaging |
Het |
Flt1 |
G |
T |
5: 147,540,379 (GRCm39) |
A770E |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,268,084 (GRCm39) |
E967V |
probably benign |
Het |
Foxc1 |
G |
C |
13: 31,992,361 (GRCm39) |
A391P |
unknown |
Het |
Foxc1 |
C |
T |
13: 31,992,362 (GRCm39) |
A391V |
unknown |
Het |
Gimap6 |
T |
A |
6: 48,679,392 (GRCm39) |
T215S |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
Itpr3 |
T |
C |
17: 27,340,028 (GRCm39) |
S2636P |
possibly damaging |
Het |
Lsg1 |
A |
G |
16: 30,380,635 (GRCm39) |
Y601H |
probably benign |
Het |
Map4 |
G |
T |
9: 109,856,865 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,733,527 (GRCm39) |
M125T |
probably damaging |
Het |
Mxi1 |
A |
G |
19: 53,360,091 (GRCm39) |
D271G |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,465,310 (GRCm39) |
T221S |
possibly damaging |
Het |
Neto1 |
T |
A |
18: 86,516,813 (GRCm39) |
S377T |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,555 (GRCm39) |
E210G |
probably damaging |
Het |
Nos2 |
G |
T |
11: 78,843,797 (GRCm39) |
V915F |
possibly damaging |
Het |
Nrros |
G |
A |
16: 31,963,030 (GRCm39) |
A329V |
probably benign |
Het |
Numb |
T |
C |
12: 83,850,578 (GRCm39) |
K211E |
probably benign |
Het |
Nup210 |
T |
A |
6: 90,995,874 (GRCm39) |
I1671F |
probably benign |
Het |
Or12j3 |
G |
A |
7: 139,953,050 (GRCm39) |
L158F |
possibly damaging |
Het |
Or4c106 |
T |
A |
2: 88,682,847 (GRCm39) |
D184E |
probably benign |
Het |
Or4c31 |
T |
A |
2: 88,291,691 (GRCm39) |
H2Q |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,481,812 (GRCm39) |
M386L |
probably benign |
Het |
Pcdhb3 |
C |
A |
18: 37,434,388 (GRCm39) |
T118K |
probably benign |
Het |
Pcdhb8 |
A |
T |
18: 37,489,011 (GRCm39) |
I230F |
probably damaging |
Het |
Peli2 |
G |
A |
14: 48,488,015 (GRCm39) |
V120I |
probably benign |
Het |
Pramel15 |
T |
A |
4: 144,099,673 (GRCm39) |
Q364L |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,748 (GRCm39) |
M96L |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,355,293 (GRCm39) |
S1531R |
probably damaging |
Het |
Prpf31 |
A |
G |
7: 3,636,392 (GRCm39) |
T138A |
possibly damaging |
Het |
Psme4 |
C |
T |
11: 30,752,837 (GRCm39) |
T175I |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,165,530 (GRCm39) |
|
probably null |
Het |
Rps19 |
T |
A |
7: 24,589,190 (GRCm39) |
*146K |
probably null |
Het |
Rsu1 |
T |
C |
2: 13,082,371 (GRCm39) |
N260S |
probably benign |
Het |
Serpina3k |
T |
C |
12: 104,311,594 (GRCm39) |
C391R |
not run |
Het |
Sipa1l1 |
T |
G |
12: 82,467,438 (GRCm39) |
|
probably null |
Het |
Snd1 |
T |
A |
6: 28,626,126 (GRCm39) |
Y394N |
probably damaging |
Het |
Spaca4 |
A |
T |
7: 45,374,831 (GRCm39) |
V57E |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,863,278 (GRCm39) |
Y142C |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,795,146 (GRCm39) |
K1535E |
probably benign |
Het |
Srcin1 |
A |
G |
11: 97,425,435 (GRCm39) |
S541P |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,631,934 (GRCm39) |
F308I |
probably damaging |
Het |
Tdrd5 |
T |
C |
1: 156,090,475 (GRCm39) |
D857G |
probably benign |
Het |
Timm22 |
A |
G |
11: 76,298,134 (GRCm39) |
D35G |
probably benign |
Het |
Tram1l1 |
C |
A |
3: 124,114,889 (GRCm39) |
H16Q |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,190,814 (GRCm39) |
Y1382C |
probably damaging |
Het |
Usp32 |
G |
T |
11: 84,879,379 (GRCm39) |
D1443E |
possibly damaging |
Het |
Uty |
A |
T |
Y: 1,131,072 (GRCm39) |
C1046S |
possibly damaging |
Het |
Wdr31 |
T |
A |
4: 62,375,768 (GRCm39) |
Q230L |
probably damaging |
Het |
Wnt8b |
C |
A |
19: 44,500,001 (GRCm39) |
T196K |
possibly damaging |
Het |
Xpo4 |
A |
T |
14: 57,835,436 (GRCm39) |
H628Q |
probably benign |
Het |
Zfp780b |
C |
T |
7: 27,663,382 (GRCm39) |
S391N |
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 |
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'- GGAGAATGTGTATACCCCTTGCC -3'
(R):5'- TCTGGGCTGCTTGAGAGAAG -3'
Sequencing Primer
(F):5'- CCCTGGCTTTTGAGGAGTGAATC -3'
(R):5'- TTGAGAGAAGCTCCTGGGC -3'
|
Posted On |
2019-10-07 |