Incidental Mutation 'R5719:Abcc3'
| ID |
451367 |
| 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 |
043339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94241894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1379
(N1379S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(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: N1378S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: N1378S
| 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: ENSMUST00000140985
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178136
AA Change: N1379S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: N1379S
| 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 |
0.8930 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (79/81) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
| A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,164,071 (GRCm39) |
H1137Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
| Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
| Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
| Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
| Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
| Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
| Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
| Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
| Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
| Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
| Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
| Smc1b |
T |
A |
15: 84,980,859 (GRCm39) |
N803I |
probably benign |
Het |
| Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,506,793 (GRCm39) |
S90G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,703,700 (GRCm39) |
V285A |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,047,314 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
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 |
|
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'- TGCATGCCGTATGGATCAGTG -3'
(R):5'- CCTGGTAAAGTCCTCCTTCTGG -3'
Sequencing Primer
(F):5'- CCGTATGGATCAGTGGTCATC -3'
(R):5'- AAAGTCCTCCTTCTGGTGAACGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation