Incidental Mutation 'R9315:Abcc3'
ID |
705855 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9315 (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 94265576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 153
(R153H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021231
AA Change: R153H
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: R153H
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 |
possibly damaging
Transcript: ENSMUST00000178136
AA Change: R153H
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: R153H
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (43/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
G |
A |
5: 90,398,360 (GRCm39) |
S1730L |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,528,287 (GRCm39) |
E509G |
probably damaging |
Het |
Cacna2d4 |
G |
T |
6: 119,213,670 (GRCm39) |
A30S |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,263,214 (GRCm39) |
S109P |
probably damaging |
Het |
Coa7 |
T |
A |
4: 108,195,581 (GRCm39) |
L170Q |
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,540,544 (GRCm39) |
I1334N |
unknown |
Het |
Col6a3 |
A |
G |
1: 90,738,979 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
A |
G |
4: 96,420,035 (GRCm39) |
I232T |
probably benign |
Het |
Ddx52 |
T |
A |
11: 83,837,033 (GRCm39) |
S175T |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,143,341 (GRCm39) |
S434F |
probably benign |
Het |
Epn1 |
T |
C |
7: 5,096,339 (GRCm39) |
V211A |
probably benign |
Het |
Fads2b |
C |
A |
2: 85,319,188 (GRCm39) |
K371N |
probably benign |
Het |
Glb1 |
A |
G |
9: 114,285,548 (GRCm39) |
N429S |
probably benign |
Het |
Ifng |
A |
T |
10: 118,278,588 (GRCm39) |
D83V |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,156,840 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
Ldlr |
T |
A |
9: 21,644,782 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,760,911 (GRCm39) |
V4992A |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,248,969 (GRCm39) |
C168* |
probably null |
Het |
Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
Mug1 |
T |
A |
6: 121,850,730 (GRCm39) |
V742D |
possibly damaging |
Het |
Mxd1 |
T |
C |
6: 86,627,926 (GRCm39) |
D204G |
probably damaging |
Het |
Myo9b |
C |
A |
8: 71,801,811 (GRCm39) |
A1322D |
possibly damaging |
Het |
Nepn |
T |
A |
10: 52,267,869 (GRCm39) |
I45N |
probably benign |
Het |
Or13a22 |
T |
C |
7: 140,072,935 (GRCm39) |
I128T |
probably damaging |
Het |
Or14c46 |
A |
T |
7: 85,918,495 (GRCm39) |
C167* |
probably null |
Het |
Or4d5 |
T |
C |
9: 40,012,270 (GRCm39) |
D172G |
probably benign |
Het |
Paip1 |
A |
G |
13: 119,586,516 (GRCm39) |
E271G |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,119 (GRCm39) |
N444S |
probably benign |
Het |
Pdcd6ip |
T |
C |
9: 113,488,921 (GRCm39) |
T705A |
possibly damaging |
Het |
Pik3r1 |
A |
G |
13: 101,894,166 (GRCm39) |
M1T |
probably null |
Het |
Rab33b |
T |
G |
3: 51,401,000 (GRCm39) |
V158G |
probably damaging |
Het |
Rab6a |
A |
G |
7: 100,281,017 (GRCm39) |
I120V |
probably benign |
Het |
Radil |
G |
T |
5: 142,474,254 (GRCm39) |
H731N |
probably damaging |
Het |
Rbm4b |
T |
C |
19: 4,812,028 (GRCm39) |
S146P |
probably damaging |
Het |
Rrn3 |
T |
C |
16: 13,606,690 (GRCm39) |
Y99H |
probably benign |
Het |
Saxo4 |
T |
A |
19: 10,458,767 (GRCm39) |
S88C |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,283,553 (GRCm39) |
T1504K |
possibly damaging |
Het |
Tas1r2 |
A |
G |
4: 139,381,046 (GRCm39) |
Y56C |
possibly damaging |
Het |
Tmprss3 |
T |
C |
17: 31,403,644 (GRCm39) |
I386V |
probably null |
Het |
Tns1 |
A |
G |
1: 73,980,141 (GRCm39) |
C11R |
|
Het |
Wdr11 |
A |
G |
7: 129,208,264 (GRCm39) |
T340A |
probably benign |
Het |
Zbtb49 |
A |
G |
5: 38,358,082 (GRCm39) |
S724P |
probably benign |
Het |
Zfp446 |
A |
G |
7: 12,713,397 (GRCm39) |
K221R |
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 |
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 |
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'- TGCATGGCTCAGATCTCCTG -3'
(R):5'- ATGGCAGTTGTCAGAAGGTG -3'
Sequencing Primer
(F):5'- CCACCAGGCAGAGATGTAGC -3'
(R):5'- TTGTCAGAAGGTGAAATGACTCC -3'
|
Posted On |
2022-03-25 |