Incidental Mutation 'R7210:Abcc3'
ID |
561016 |
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 |
045239-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94264767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 194
(P194S)
|
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: P194S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: P194S
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 benign
Transcript: ENSMUST00000178136
AA Change: P194S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: P194S
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
C |
T |
9: 121,737,943 (GRCm39) |
A106V |
possibly damaging |
Het |
Alg3 |
G |
A |
16: 20,424,644 (GRCm39) |
P112L |
unknown |
Het |
Areg |
T |
A |
5: 91,288,764 (GRCm39) |
Y23* |
probably null |
Het |
Aspn |
A |
G |
13: 49,719,967 (GRCm39) |
T328A |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,729,241 (GRCm39) |
E249D |
possibly damaging |
Het |
Bptf |
G |
A |
11: 106,945,290 (GRCm39) |
Q2650* |
probably null |
Het |
Btbd3 |
A |
T |
2: 138,125,664 (GRCm39) |
R283W |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,955,615 (GRCm39) |
H1035R |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,433,900 (GRCm39) |
Y959* |
probably null |
Het |
Cnot1 |
T |
C |
8: 96,515,286 (GRCm39) |
Y25C |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,902,121 (GRCm39) |
H2373Y |
possibly damaging |
Het |
Ctnna3 |
T |
C |
10: 64,086,547 (GRCm39) |
L373P |
probably damaging |
Het |
Cyp8b1 |
T |
A |
9: 121,744,246 (GRCm39) |
D362V |
probably damaging |
Het |
D630003M21Rik |
T |
A |
2: 158,057,932 (GRCm39) |
|
probably null |
Het |
Dpp6 |
T |
C |
5: 27,803,801 (GRCm39) |
I249T |
probably damaging |
Het |
Fam149b |
T |
G |
14: 20,428,540 (GRCm39) |
I475M |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,540 (GRCm39) |
Y1862C |
probably damaging |
Het |
Fcrl5 |
A |
T |
3: 87,353,719 (GRCm39) |
N355Y |
possibly damaging |
Het |
Fgd6 |
C |
T |
10: 93,969,954 (GRCm39) |
T1201I |
probably damaging |
Het |
Fndc8 |
A |
T |
11: 82,788,692 (GRCm39) |
D174V |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,481,527 (GRCm39) |
H26R |
probably benign |
Het |
Gm37240 |
T |
A |
3: 84,405,114 (GRCm39) |
T230S |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,464,135 (GRCm39) |
Q609R |
probably damaging |
Het |
Gse1 |
C |
A |
8: 120,957,441 (GRCm39) |
T644K |
unknown |
Het |
Ifit1bl1 |
T |
G |
19: 34,571,564 (GRCm39) |
I298L |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,686,034 (GRCm39) |
D85G |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,471,411 (GRCm39) |
V1504A |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,831,568 (GRCm39) |
L1664P |
probably damaging |
Het |
Mrpl35 |
A |
G |
6: 71,794,722 (GRCm39) |
L82S |
possibly damaging |
Het |
Myo7b |
G |
A |
18: 32,140,155 (GRCm39) |
R212C |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,154,114 (GRCm39) |
V684A |
probably damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nop58 |
G |
T |
1: 59,749,539 (GRCm39) |
|
probably null |
Het |
Nudt13 |
T |
A |
14: 20,359,852 (GRCm39) |
I193N |
possibly damaging |
Het |
Nyap1 |
C |
A |
5: 137,736,244 (GRCm39) |
R81L |
probably damaging |
Het |
Or1e28-ps1 |
T |
C |
11: 73,615,699 (GRCm39) |
I50M |
possibly damaging |
Het |
Oxct2b |
A |
C |
4: 123,010,069 (GRCm39) |
|
probably benign |
Het |
Pcf11 |
C |
T |
7: 92,312,684 (GRCm39) |
A230T |
probably benign |
Het |
Phactr4 |
A |
T |
4: 132,085,582 (GRCm39) |
*695R |
probably null |
Het |
Pkd1 |
T |
C |
17: 24,794,840 (GRCm39) |
S2176P |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,093,543 (GRCm39) |
R133L |
probably damaging |
Het |
Ptprq |
G |
T |
10: 107,521,032 (GRCm39) |
N713K |
probably damaging |
Het |
Ptrh2 |
A |
T |
11: 86,580,793 (GRCm39) |
T137S |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,138,945 (GRCm39) |
Y718C |
possibly damaging |
Het |
Rftn1 |
T |
A |
17: 50,301,335 (GRCm39) |
R505* |
probably null |
Het |
Rps15a |
A |
G |
7: 117,708,334 (GRCm39) |
F128L |
probably benign |
Het |
Slc25a25 |
A |
T |
2: 32,310,408 (GRCm39) |
M177K |
possibly damaging |
Het |
Smgc |
C |
A |
15: 91,744,492 (GRCm39) |
P631Q |
probably damaging |
Het |
Sox2 |
T |
C |
3: 34,705,306 (GRCm39) |
S248P |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,760,808 (GRCm39) |
K702E |
probably damaging |
Het |
Tes |
G |
T |
6: 17,104,761 (GRCm39) |
C414F |
probably damaging |
Het |
Tet1 |
A |
T |
10: 62,650,280 (GRCm39) |
C14S |
probably null |
Het |
Tle3 |
C |
T |
9: 61,319,587 (GRCm39) |
P452S |
probably damaging |
Het |
Tmc6 |
A |
C |
11: 117,666,670 (GRCm39) |
L131R |
possibly damaging |
Het |
Tnip3 |
C |
T |
6: 65,570,495 (GRCm39) |
R30* |
probably null |
Het |
Tnrc6b |
G |
T |
15: 80,813,486 (GRCm39) |
G1748W |
probably damaging |
Het |
Ugt2b38 |
T |
G |
5: 87,558,284 (GRCm39) |
D459A |
probably damaging |
Het |
Zdhhc2 |
A |
T |
8: 40,920,480 (GRCm39) |
R246S |
probably damaging |
Het |
Zscan22 |
T |
A |
7: 12,640,748 (GRCm39) |
C331S |
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 |
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'- GTACTCAGCCCACTCTCAAG -3'
(R):5'- AAGTCCTCCTCGTGTCACTG -3'
Sequencing Primer
(F):5'- CACTCTCAAGCTGTGGAGGTG -3'
(R):5'- TACCGCTGGGCATCCTCTG -3'
|
Posted On |
2019-06-26 |