Incidental Mutation 'R5172:Abcc3'
| ID |
398845 |
| 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 |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94266434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 52
(Y52C)
|
| 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: Y52C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: Y52C
| 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 |
probably damaging
Transcript: ENSMUST00000178136
AA Change: Y52C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: Y52C
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
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 |
|
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'- AAGGCCTGGAGACTCAATTGATAG -3'
(R):5'- GCCAACTATGCCTGTACGAG -3'
Sequencing Primer
(F):5'- CCTGGAGACTCAATTGATAGGCTTC -3'
(R):5'- TGCCTGTACGAGGTTACCACAATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation