Incidental Mutation 'R9723:Abcc3'
| ID |
730937 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94250725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 877
(T877S)
|
| 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: T876S
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: T876S
| 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: T877S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: T877S
| 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: 99.1%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
G |
A |
1: 75,156,366 (GRCm39) |
R133W |
probably benign |
Het |
| Alb |
A |
T |
5: 90,611,962 (GRCm39) |
K130N |
probably damaging |
Het |
| Alkbh8 |
G |
A |
9: 3,385,283 (GRCm39) |
S560N |
probably benign |
Het |
| Angel2 |
T |
G |
1: 190,671,342 (GRCm39) |
L234R |
probably damaging |
Het |
| Catip |
C |
T |
1: 74,403,745 (GRCm39) |
T154I |
probably benign |
Het |
| Ccdc163 |
C |
T |
4: 116,569,595 (GRCm39) |
Q102* |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,823,337 (GRCm39) |
E997G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,463 (GRCm39) |
I183T |
possibly damaging |
Het |
| Commd8 |
A |
G |
5: 72,318,309 (GRCm39) |
V158A |
possibly damaging |
Het |
| Cyp2b9 |
C |
T |
7: 25,909,596 (GRCm39) |
Q455* |
probably null |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,284 (GRCm39) |
H704N |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,987,946 (GRCm39) |
T3491A |
probably damaging |
Het |
| Dnai1 |
T |
G |
4: 41,603,302 (GRCm39) |
F195C |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,908,270 (GRCm39) |
V620A |
|
Het |
| Dock7 |
A |
T |
4: 98,960,660 (GRCm39) |
D289E |
|
Het |
| Dpys |
T |
A |
15: 39,691,509 (GRCm39) |
E271V |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,155 (GRCm39) |
Y244H |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,652,241 (GRCm39) |
G1250E |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,229,170 (GRCm39) |
T1774M |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,535 (GRCm39) |
K107R |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,202,119 (GRCm39) |
C1251* |
probably null |
Het |
| Fn1 |
G |
T |
1: 71,663,369 (GRCm39) |
Q1040K |
possibly damaging |
Het |
| Frem3 |
C |
T |
8: 81,341,352 (GRCm39) |
S1215L |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,214,388 (GRCm39) |
D135E |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,488,648 (GRCm39) |
V240I |
probably benign |
Het |
| Galnt12 |
C |
G |
4: 47,119,541 (GRCm39) |
Y452* |
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gm12258 |
C |
T |
11: 58,750,448 (GRCm39) |
P541L |
unknown |
Het |
| Gm12789 |
T |
A |
4: 101,846,083 (GRCm39) |
W115R |
possibly damaging |
Het |
| Gm8126 |
T |
C |
14: 43,119,141 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
T |
11: 97,225,546 (GRCm39) |
L2203H |
possibly damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,906 (GRCm39) |
K20E |
probably damaging |
Het |
| Hapln3 |
A |
T |
7: 78,771,736 (GRCm39) |
V51E |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,257 (GRCm39) |
*464W |
probably null |
Het |
| Il1r1 |
A |
C |
1: 40,332,721 (GRCm39) |
I137L |
probably benign |
Het |
| Il1rap |
T |
A |
16: 26,442,907 (GRCm39) |
M1K |
probably null |
Het |
| Lgi2 |
A |
G |
5: 52,695,843 (GRCm39) |
L372P |
probably damaging |
Het |
| Lrrc46 |
A |
G |
11: 96,925,773 (GRCm39) |
S230P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mapk8ip3 |
C |
A |
17: 25,132,585 (GRCm39) |
W339L |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,969,008 (GRCm39) |
M459K |
possibly damaging |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Ndst2 |
G |
T |
14: 20,775,512 (GRCm39) |
D659E |
probably benign |
Het |
| Npat |
T |
A |
9: 53,473,746 (GRCm39) |
S513T |
probably benign |
Het |
| Npat |
T |
G |
9: 53,481,861 (GRCm39) |
L1190V |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,343,649 (GRCm39) |
I448T |
probably benign |
Het |
| Omd |
T |
C |
13: 49,743,838 (GRCm39) |
F296S |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,788,514 (GRCm39) |
N423S |
possibly damaging |
Het |
| Oxtr |
G |
A |
6: 112,466,304 (GRCm39) |
T152I |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,852,650 (GRCm39) |
V297E |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pet100 |
G |
A |
8: 3,672,374 (GRCm39) |
M20I |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,306,875 (GRCm39) |
S505P |
probably benign |
Het |
| Plin5 |
G |
A |
17: 56,423,290 (GRCm39) |
A90V |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,551,026 (GRCm39) |
T526A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,058,700 (GRCm39) |
H84R |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,019 (GRCm39) |
V425I |
possibly damaging |
Het |
| Rad51d |
A |
T |
11: 82,781,162 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
T |
C |
14: 33,677,474 (GRCm39) |
M474T |
possibly damaging |
Het |
| Rcan3 |
A |
G |
4: 135,152,680 (GRCm39) |
S14P |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,816,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,464 (GRCm39) |
S692L |
possibly damaging |
Het |
| Sgk1 |
A |
T |
10: 21,872,239 (GRCm39) |
I272F |
probably damaging |
Het |
| Skor1 |
A |
G |
9: 63,053,714 (GRCm39) |
V85A |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,059,827 (GRCm39) |
D909V |
probably damaging |
Het |
| Slc25a18 |
C |
A |
6: 120,770,489 (GRCm39) |
A283E |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,103 (GRCm39) |
L411P |
possibly damaging |
Het |
| Spata13 |
T |
C |
14: 60,928,498 (GRCm39) |
S19P |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,848 (GRCm39) |
H42L |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,298,103 (GRCm39) |
D698E |
probably benign |
Het |
| Syngap1 |
G |
A |
17: 27,189,510 (GRCm39) |
R1305H |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,461,963 (GRCm39) |
Y1101H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,061 (GRCm39) |
K535E |
probably damaging |
Het |
| Usp14 |
G |
T |
18: 10,009,993 (GRCm39) |
Q185K |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,935,536 (GRCm39) |
Y413* |
probably null |
Het |
| Uvssa |
G |
A |
5: 33,547,382 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,774 (GRCm39) |
L34Q |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,151,671 (GRCm39) |
L277P |
probably damaging |
Het |
| Zc2hc1b |
T |
A |
10: 13,044,497 (GRCm39) |
L55F |
probably damaging |
Het |
| Zfp345 |
A |
C |
2: 150,314,189 (GRCm39) |
Y449* |
probably null |
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 |
|
|
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 |
|
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'- CCCAGGACATGTGTAACAGG -3'
(R):5'- CTTCTCTACGGTCGGCAAAG -3'
Sequencing Primer
(F):5'- GGAGAGAATGTCCACTTGTGGC -3'
(R):5'- TTCTCTACGGTCGGCAAAGGAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation