Incidental Mutation 'R8733:Abcc3'
ID |
662876 |
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 |
068581-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8733 (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 94249627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1106
(L1106P)
|
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: L1105P
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: L1105P
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: L1106P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: L1106P
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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
Dgcr8 |
T |
C |
16: 18,077,825 (GRCm39) |
I603V |
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
Ints6 |
G |
A |
14: 62,934,297 (GRCm39) |
P737S |
probably benign |
Het |
Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
Otop1 |
G |
A |
5: 38,457,117 (GRCm39) |
R292H |
probably damaging |
Het |
Otop1 |
T |
A |
5: 38,457,796 (GRCm39) |
C518* |
probably null |
Het |
Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
Psmd11 |
A |
G |
11: 80,325,342 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,100,303 (GRCm39) |
L479P |
probably damaging |
Het |
Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
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 |
|
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 |
|
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'- TGACTACAGTCCCTGATCCAATC -3'
(R):5'- GCTCTGCTGCACAACAAGATTC -3'
Sequencing Primer
(F):5'- AGTCCCTGATCCAATCCAGGG -3'
(R):5'- TGCTGCACAACAAGATTCGTTCC -3'
|
Posted On |
2021-03-08 |