Incidental Mutation 'R7054:Abcc3'
| ID |
547795 |
| 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 |
045151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94256051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 478
(K478R)
|
| 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: K478R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: K478R
| 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: ENSMUST00000178136
AA Change: K478R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: K478R
| 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: 99.0%
|
| Validation Efficiency |
94% (67/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
A |
4: 88,786,486 (GRCm39) |
H44L |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,736,952 (GRCm39) |
|
probably benign |
Het |
| Apod |
A |
G |
16: 31,129,950 (GRCm39) |
V2A |
probably benign |
Het |
| Armh4 |
C |
A |
14: 50,011,155 (GRCm39) |
S184I |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,092,824 (GRCm39) |
D530E |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
| Blmh |
G |
C |
11: 76,859,451 (GRCm39) |
G351R |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,857,321 (GRCm39) |
R454* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,619,233 (GRCm39) |
E188G |
probably damaging |
Het |
| Cimip3 |
A |
G |
17: 47,748,114 (GRCm39) |
|
probably null |
Het |
| Creg2 |
T |
C |
1: 39,662,376 (GRCm39) |
E252G |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,622,857 (GRCm39) |
Y636C |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,835 (GRCm39) |
I36T |
probably benign |
Het |
| Eed |
A |
G |
7: 89,613,935 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,353 (GRCm39) |
D351G |
unknown |
Het |
| Fra10ac1 |
C |
T |
19: 38,212,567 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,623,136 (GRCm39) |
I249N |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,676,423 (GRCm39) |
V600D |
probably null |
Het |
| Gm13889 |
A |
T |
2: 93,787,459 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
T |
A |
14: 43,813,327 (GRCm39) |
N188Y |
|
Het |
| Gm3327 |
T |
C |
14: 44,363,732 (GRCm39) |
F112S |
|
Het |
| H2-Ab1 |
T |
C |
17: 34,482,316 (GRCm39) |
S11P |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,763,000 (GRCm39) |
S522P |
unknown |
Het |
| Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
| Hoxa1 |
A |
G |
6: 52,135,180 (GRCm39) |
S8P |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,369 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ifih1 |
T |
A |
2: 62,440,859 (GRCm39) |
I485L |
probably benign |
Het |
| Ift52 |
G |
A |
2: 162,871,716 (GRCm39) |
V183M |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,161,658 (GRCm39) |
V410A |
possibly damaging |
Het |
| Il22ra1 |
G |
A |
4: 135,478,473 (GRCm39) |
V515I |
probably benign |
Het |
| Klk1b3 |
A |
T |
7: 43,850,863 (GRCm39) |
I132F |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,305,448 (GRCm39) |
T206A |
possibly damaging |
Het |
| Llph |
A |
T |
10: 120,067,240 (GRCm39) |
|
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,087 (GRCm39) |
D29E |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,007,191 (GRCm39) |
|
probably null |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,792 (GRCm39) |
V89A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,534 (GRCm39) |
T2899I |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 126,186,449 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,619 (GRCm39) |
D530G |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,775 (GRCm39) |
M47K |
probably benign |
Het |
| Or56a3b |
C |
T |
7: 104,771,170 (GRCm39) |
R169* |
probably null |
Het |
| Pax4 |
A |
G |
6: 28,446,322 (GRCm39) |
I57T |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,711 (GRCm39) |
I129V |
possibly damaging |
Het |
| Pex6 |
G |
A |
17: 47,031,447 (GRCm39) |
A416T |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,524,631 (GRCm39) |
R326H |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,519,366 (GRCm39) |
M21L |
probably benign |
Het |
| Polh |
A |
T |
17: 46,509,642 (GRCm39) |
W64R |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,556 (GRCm39) |
H256Q |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,265,258 (GRCm39) |
M1184T |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,299,436 (GRCm39) |
E936D |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,283,079 (GRCm39) |
A769T |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,617,974 (GRCm39) |
T440S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,008,604 (GRCm39) |
V40E |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,201,234 (GRCm39) |
S191C |
possibly damaging |
Het |
| Timm22 |
A |
G |
11: 76,298,071 (GRCm39) |
E14G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,318 (GRCm39) |
D905E |
probably damaging |
Het |
| Trav7-5 |
T |
C |
14: 53,768,756 (GRCm39) |
L108P |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,353,667 (GRCm39) |
T106A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,012 (GRCm39) |
S32697G |
probably damaging |
Het |
| Usp17la |
T |
G |
7: 104,510,514 (GRCm39) |
L373R |
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,427 (GRCm39) |
N73S |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,051 (GRCm39) |
T173A |
possibly damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,182 (GRCm39) |
V243A |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,227 (GRCm39) |
S379P |
probably benign |
Het |
| Zfp870 |
T |
C |
17: 33,102,456 (GRCm39) |
Y292C |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,786 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,104 (GRCm39) |
T207M |
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 |
|
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'- CCAGAAATGGGGTGCAGATC -3'
(R):5'- TAAACACGGAGCTGCTCTTCTG -3'
Sequencing Primer
(F):5'- TGGGGTGCAGATCCAGATG -3'
(R):5'- TCTTCTGAGTCAGGGGACAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation