Incidental Mutation 'R0377:Abcc3'
| ID |
30816 |
| 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 |
038583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94265922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 107
(V107F)
|
| 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: V107F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: V107F
| 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 |
noncoding transcript
Transcript: ENSMUST00000126566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151124
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178136
AA Change: V107F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: V107F
| 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 |
0.1834 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
97% (67/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
A |
9: 103,958,891 (GRCm39) |
|
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,190 (GRCm39) |
E299K |
possibly damaging |
Het |
| Adam5 |
T |
C |
8: 25,237,557 (GRCm39) |
T618A |
probably benign |
Het |
| Amigo2 |
T |
A |
15: 97,144,261 (GRCm39) |
T54S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,260 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,966,402 (GRCm39) |
K1057E |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,060,337 (GRCm39) |
L396* |
probably null |
Het |
| Cic |
C |
A |
7: 24,985,224 (GRCm39) |
H1157N |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,259 (GRCm39) |
T690S |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,911 (GRCm39) |
C1319S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,905,456 (GRCm39) |
V775A |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,036,066 (GRCm39) |
W369* |
probably null |
Het |
| Esp18 |
T |
A |
17: 39,720,835 (GRCm39) |
W27R |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,966,920 (GRCm39) |
|
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,285,841 (GRCm39) |
|
probably benign |
Het |
| Gm13547 |
G |
A |
2: 29,651,803 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,940,175 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
G |
A |
12: 76,841,930 (GRCm39) |
Q74* |
probably null |
Het |
| Gucy2c |
A |
G |
6: 136,727,915 (GRCm39) |
|
probably null |
Het |
| Hoxa5 |
A |
T |
6: 52,179,626 (GRCm39) |
W250R |
probably damaging |
Het |
| Izumo4 |
G |
A |
10: 80,538,674 (GRCm39) |
R42H |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,222 (GRCm39) |
M71I |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,273,618 (GRCm39) |
L2333Q |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,202,824 (GRCm39) |
E177G |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,985,731 (GRCm39) |
I218N |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,595,463 (GRCm39) |
L393P |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,527 (GRCm39) |
S234P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,320 (GRCm39) |
D367G |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,401 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,159 (GRCm39) |
V784A |
probably benign |
Het |
| Nutf2 |
T |
A |
8: 106,605,504 (GRCm39) |
V113D |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,127,415 (GRCm39) |
R933C |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,491,260 (GRCm39) |
M258V |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,927 (GRCm39) |
D180E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,946,760 (GRCm39) |
D211G |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
G |
A |
12: 80,753,210 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,591,501 (GRCm39) |
E1165G |
probably damaging |
Het |
| Prkab2 |
T |
A |
3: 97,569,633 (GRCm39) |
D66E |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,217,200 (GRCm39) |
S885R |
possibly damaging |
Het |
| Rab26 |
A |
T |
17: 24,749,019 (GRCm39) |
|
probably benign |
Het |
| Rab5a |
G |
A |
17: 53,807,490 (GRCm39) |
M175I |
probably benign |
Het |
| Rassf9 |
T |
A |
10: 102,381,510 (GRCm39) |
D297E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,034 (GRCm39) |
Y133C |
probably damaging |
Het |
| Sdr16c5 |
G |
A |
4: 4,005,546 (GRCm39) |
L263F |
probably benign |
Het |
| Sec14l1 |
T |
G |
11: 117,039,966 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
T |
C |
4: 34,044,267 (GRCm39) |
|
probably null |
Het |
| Stk36 |
C |
T |
1: 74,651,889 (GRCm39) |
P394L |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,938,720 (GRCm39) |
I196T |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,235 (GRCm39) |
M233K |
probably damaging |
Het |
| Tmem8b |
C |
T |
4: 43,674,005 (GRCm39) |
T212M |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,638,610 (GRCm39) |
F293I |
probably damaging |
Het |
| Tnfsf11 |
T |
G |
14: 78,537,352 (GRCm39) |
T104P |
probably benign |
Het |
| Trmt2a |
G |
A |
16: 18,067,567 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Trps1 |
C |
A |
15: 50,695,174 (GRCm39) |
E324* |
probably null |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Wdr18 |
G |
A |
10: 79,803,336 (GRCm39) |
R400H |
probably benign |
Het |
| Zfp119b |
T |
A |
17: 56,245,671 (GRCm39) |
H505L |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,186,221 (GRCm39) |
C750* |
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
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 |
|
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 |
|
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'- GCCGCTCGTACTGGATTAGCAAAG -3'
(R):5'- CAATGCCTGCGTGAAAAGGGAC -3'
Sequencing Primer
(F):5'- CCAGCAGCTATGCAGGAAG -3'
(R):5'- CGTGAAAAGGGACCTCTCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation