Incidental Mutation 'R6782:Abcc3'
ID |
531479 |
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 |
044896-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6782 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94249776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1055
(F1055L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021231
(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: F1055L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: F1055L
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: F1056L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: F1056L
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: 99.6%
- 10x: 98.4%
- 20x: 95.7%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,847,308 (GRCm39) |
A724V |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Ankrd17 |
T |
C |
5: 90,402,597 (GRCm39) |
K1488R |
possibly damaging |
Het |
Ano1 |
G |
A |
7: 144,175,424 (GRCm39) |
T498I |
probably damaging |
Het |
Arhgap42 |
T |
A |
9: 9,115,721 (GRCm39) |
K118N |
probably damaging |
Het |
Arl5b |
A |
G |
2: 15,077,993 (GRCm39) |
E106G |
probably damaging |
Het |
Atp5mc3 |
C |
T |
2: 73,739,672 (GRCm39) |
R56Q |
probably benign |
Het |
Bbx |
T |
C |
16: 50,020,928 (GRCm39) |
R749G |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,350,376 (GRCm39) |
S490P |
probably damaging |
Het |
Ccdc63 |
A |
T |
5: 122,249,077 (GRCm39) |
Y417* |
probably null |
Het |
Cep162 |
A |
T |
9: 87,093,737 (GRCm39) |
N880K |
probably benign |
Het |
Chd2 |
G |
A |
7: 73,125,127 (GRCm39) |
Q77* |
probably null |
Het |
Cntrl |
T |
G |
2: 35,060,658 (GRCm39) |
M1397R |
possibly damaging |
Het |
Dcaf7 |
A |
G |
11: 105,945,581 (GRCm39) |
Y310C |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,449,302 (GRCm39) |
S4235T |
possibly damaging |
Het |
Dot1l |
C |
T |
10: 80,625,224 (GRCm39) |
P1157L |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,057,465 (GRCm39) |
T577A |
probably benign |
Het |
Foxp1 |
T |
C |
6: 98,907,106 (GRCm39) |
D624G |
probably damaging |
Het |
Gfi1 |
A |
T |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
Gm5113 |
G |
A |
7: 29,878,178 (GRCm39) |
V89I |
probably benign |
Het |
Gtf3c2 |
A |
C |
5: 31,327,180 (GRCm39) |
L382R |
probably benign |
Het |
H3c2 |
T |
C |
13: 23,936,393 (GRCm39) |
S11P |
probably benign |
Het |
Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
Htr5b |
T |
C |
1: 121,438,227 (GRCm39) |
I335V |
probably benign |
Het |
Ifi206 |
A |
G |
1: 173,308,923 (GRCm39) |
S358P |
unknown |
Het |
Loxhd1 |
T |
A |
18: 77,518,873 (GRCm39) |
V1893D |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,945,968 (GRCm39) |
R11G |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Npr1 |
T |
C |
3: 90,363,560 (GRCm39) |
N821S |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,137,090 (GRCm39) |
D180G |
probably damaging |
Het |
Or52a24 |
A |
G |
7: 103,381,549 (GRCm39) |
T139A |
possibly damaging |
Het |
Or5p63 |
T |
C |
7: 107,811,670 (GRCm39) |
D22G |
probably benign |
Het |
Or5p70 |
T |
G |
7: 107,994,744 (GRCm39) |
M139R |
probably damaging |
Het |
Pi4ka |
T |
A |
16: 17,143,852 (GRCm39) |
D739V |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,243,377 (GRCm39) |
|
probably null |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,783,391 (GRCm39) |
V83A |
probably damaging |
Het |
Sdc2 |
C |
A |
15: 33,028,281 (GRCm39) |
T133K |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,947,088 (GRCm39) |
V592D |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,164,560 (GRCm39) |
Y990* |
probably null |
Het |
Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
Tada1 |
A |
G |
1: 166,217,541 (GRCm39) |
N226S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 49,099,291 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
G |
8: 64,524,315 (GRCm39) |
V457A |
probably benign |
Het |
Tmem232 |
T |
C |
17: 65,807,119 (GRCm39) |
K25E |
possibly damaging |
Het |
Tnrc18 |
T |
C |
5: 142,773,063 (GRCm39) |
S406G |
unknown |
Het |
Ush2a |
A |
G |
1: 188,089,031 (GRCm39) |
M329V |
probably benign |
Het |
Vmn2r107 |
T |
C |
17: 20,577,141 (GRCm39) |
S380P |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,519,563 (GRCm39) |
M465T |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp217 |
T |
C |
2: 169,958,178 (GRCm39) |
D463G |
probably damaging |
Het |
Zfp345 |
T |
C |
2: 150,315,274 (GRCm39) |
S88G |
probably damaging |
Het |
Zfp975 |
A |
C |
7: 42,311,454 (GRCm39) |
N386K |
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 |
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'- GGGGCAAGACAACCACCATG -3'
(R):5'- AGGTGAACACATTGGGGTGC -3'
Sequencing Primer
(F):5'- CACCATGAAGAGCGGCGTG -3'
(R):5'- ACATTGGGGTGCGCCTC -3'
|
Posted On |
2018-08-29 |