Incidental Mutation 'R6889:Abcc3'
| ID |
537125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc3
|
| Ensembl Gene |
ENSMUSG00000020865 |
| Gene Name |
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 |
| Synonyms |
MRP3, 1700019L09Rik |
| MMRRC Submission |
044983-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94343295-94392997 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94375555 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 70
(S70T)
|
| 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: S70T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: S70T
| 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 |
possibly damaging
Transcript: ENSMUST00000178136
AA Change: S70T
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: S70T
| 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: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,943,053 |
D103E |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 101,029,183 |
Y214C |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 118,049,895 |
|
probably null |
Het |
| BC067074 |
C |
A |
13: 113,318,378 |
S319R |
probably damaging |
Het |
| Cacnb2 |
T |
A |
2: 14,986,015 |
V636E |
possibly damaging |
Het |
| Cd8a |
A |
C |
6: 71,374,562 |
T169P |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,404,132 |
V68I |
probably benign |
Het |
| Eea1 |
G |
T |
10: 96,037,478 |
C1134F |
probably benign |
Het |
| Ehmt2 |
T |
G |
17: 34,912,772 |
F1192V |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,365,350 |
F531L |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,650,477 |
T173I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,844,416 |
C520S |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,280,138 |
K186E |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,236,990 |
N405K |
probably damaging |
Het |
| Hmgcl |
C |
A |
4: 135,955,642 |
T135N |
probably benign |
Het |
| Hydin |
G |
A |
8: 110,532,856 |
D2487N |
possibly damaging |
Het |
| Igfl3 |
G |
T |
7: 18,179,800 |
R25L |
probably benign |
Het |
| Igsf10 |
A |
C |
3: 59,331,933 |
S276A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 14,973,988 |
S211P |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,152,501 |
Q255L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,625,063 |
Y270H |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 49,153,111 |
N1248S |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,944,109 |
F408S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 128,493,057 |
F652S |
probably damaging |
Het |
| Olfr1338 |
G |
A |
4: 118,754,307 |
T79I |
probably damaging |
Het |
| Olfr487 |
A |
T |
7: 108,211,918 |
F204I |
probably benign |
Het |
| Olfr574 |
A |
T |
7: 102,948,768 |
H91L |
possibly damaging |
Het |
| Olfr821 |
T |
C |
10: 130,034,532 |
M302T |
probably benign |
Het |
| Opa1 |
G |
T |
16: 29,620,868 |
R792L |
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 36,968,343 |
L196F |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,196,970 |
Y347* |
probably null |
Het |
| Pdpr |
G |
T |
8: 111,124,613 |
|
probably null |
Het |
| Pigt |
T |
A |
2: 164,507,331 |
L518Q |
probably damaging |
Het |
| Ppfibp2 |
A |
C |
7: 107,737,981 |
D591A |
possibly damaging |
Het |
| Prrg2 |
G |
A |
7: 45,059,989 |
T97M |
possibly damaging |
Het |
| Qars |
A |
G |
9: 108,513,183 |
T428A |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,185,715 |
F202L |
probably damaging |
Het |
| Rars |
A |
T |
11: 35,808,486 |
M660K |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,579,925 |
|
probably benign |
Het |
| Slc16a6 |
A |
C |
11: 109,455,040 |
F382V |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,954,153 |
T330A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,067,759 |
L1157Q |
probably damaging |
Het |
| Snx4 |
G |
T |
16: 33,251,470 |
A4S |
possibly damaging |
Het |
| Sv2b |
A |
C |
7: 75,125,767 |
|
probably null |
Het |
| Syt9 |
A |
T |
7: 107,425,286 |
I129L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,773,353 |
E198G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,944,300 |
D488V |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,797,871 |
C3286S |
probably damaging |
Het |
| Vill |
A |
G |
9: 119,065,882 |
D56G |
possibly damaging |
Het |
| Vmn1r41 |
A |
T |
6: 89,747,370 |
I298F |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,117,267 |
V631D |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,472,574 |
S437P |
possibly damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,601,142 |
V197A |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,920,369 |
I32F |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 133,194,730 |
A387S |
unknown |
Het |
| Wdr92 |
G |
A |
11: 17,222,309 |
V133M |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,387,679 |
C124Y |
probably damaging |
Het |
| Zfp462 |
G |
T |
4: 55,007,671 |
A37S |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,686,990 |
E882G |
possibly damaging |
Het |
|
| Other mutations in Abcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Abcc3
|
APN |
11 |
94,343,785 (GRCm38) |
splice site |
probably benign |
|
|
IGL01154:Abcc3
|
APN |
11 |
94,359,232 (GRCm38) |
splice site |
probably benign |
|
|
IGL01353:Abcc3
|
APN |
11 |
94,352,108 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02553:Abcc3
|
APN |
11 |
94,351,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02795:Abcc3
|
APN |
11 |
94,361,642 (GRCm38) |
splice site |
probably benign |
|
|
IGL02928:Abcc3
|
APN |
11 |
94,361,306 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02964:Abcc3
|
APN |
11 |
94,351,810 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03006:Abcc3
|
APN |
11 |
94,368,595 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03345:Abcc3
|
APN |
11 |
94,359,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0200:Abcc3
|
UTSW |
11 |
94,355,074 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0377:Abcc3
|
UTSW |
11 |
94,375,096 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0812:Abcc3
|
UTSW |
11 |
94,375,202 (GRCm38) |
splice site |
probably benign |
|
|
R1269:Abcc3
|
UTSW |
11 |
94,357,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1270:Abcc3
|
UTSW |
11 |
94,357,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1375:Abcc3
|
UTSW |
11 |
94,352,216 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1506:Abcc3
|
UTSW |
11 |
94,357,318 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1525:Abcc3
|
UTSW |
11 |
94,361,236 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1842:Abcc3
|
UTSW |
11 |
94,359,612 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1868:Abcc3
|
UTSW |
11 |
94,364,063 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2069:Abcc3
|
UTSW |
11 |
94,364,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2132:Abcc3
|
UTSW |
11 |
94,367,600 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2257:Abcc3
|
UTSW |
11 |
94,363,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2395:Abcc3
|
UTSW |
11 |
94,357,306 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2930:Abcc3
|
UTSW |
11 |
94,361,810 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3081:Abcc3
|
UTSW |
11 |
94,356,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3824:Abcc3
|
UTSW |
11 |
94,368,620 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4385:Abcc3
|
UTSW |
11 |
94,368,239 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4425:Abcc3
|
UTSW |
11 |
94,346,044 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4464:Abcc3
|
UTSW |
11 |
94,358,786 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4696:Abcc3
|
UTSW |
11 |
94,350,991 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4877:Abcc3
|
UTSW |
11 |
94,367,595 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5172:Abcc3
|
UTSW |
11 |
94,375,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5586:Abcc3
|
UTSW |
11 |
94,364,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5682:Abcc3
|
UTSW |
11 |
94,392,897 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5719:Abcc3
|
UTSW |
11 |
94,351,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5816:Abcc3
|
UTSW |
11 |
94,343,737 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5919:Abcc3
|
UTSW |
11 |
94,357,306 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6222:Abcc3
|
UTSW |
11 |
94,368,605 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6264:Abcc3
|
UTSW |
11 |
94,373,998 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6526:Abcc3
|
UTSW |
11 |
94,359,372 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6782:Abcc3
|
UTSW |
11 |
94,358,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6953:Abcc3
|
UTSW |
11 |
94,374,835 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7054:Abcc3
|
UTSW |
11 |
94,365,225 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7131:Abcc3
|
UTSW |
11 |
94,365,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7210:Abcc3
|
UTSW |
11 |
94,373,941 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7283:Abcc3
|
UTSW |
11 |
94,357,047 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7284:Abcc3
|
UTSW |
11 |
94,357,047 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7285:Abcc3
|
UTSW |
11 |
94,357,047 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7287:Abcc3
|
UTSW |
11 |
94,357,047 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7320:Abcc3
|
UTSW |
11 |
94,367,645 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7450:Abcc3
|
UTSW |
11 |
94,361,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7469:Abcc3
|
UTSW |
11 |
94,368,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7794:Abcc3
|
UTSW |
11 |
94,358,871 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7851:Abcc3
|
UTSW |
11 |
94,359,660 (GRCm38) |
nonsense |
probably null |
|
|
R7861:Abcc3
|
UTSW |
11 |
94,357,249 (GRCm38) |
missense |
probably null |
1.00 |
|
R8036:Abcc3
|
UTSW |
11 |
94,345,992 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8214:Abcc3
|
UTSW |
11 |
94,363,518 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8447:Abcc3
|
UTSW |
11 |
94,364,060 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8558:Abcc3
|
UTSW |
11 |
94,351,797 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8733:Abcc3
|
UTSW |
11 |
94,358,801 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8821:Abcc3
|
UTSW |
11 |
94,350,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8831:Abcc3
|
UTSW |
11 |
94,350,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9187:Abcc3
|
UTSW |
11 |
94,365,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9315:Abcc3
|
UTSW |
11 |
94,374,750 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9519:Abcc3
|
UTSW |
11 |
94,373,979 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9658:Abcc3
|
UTSW |
11 |
94,372,877 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9686:Abcc3
|
UTSW |
11 |
94,357,041 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9722:Abcc3
|
UTSW |
11 |
94,359,246 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9723:Abcc3
|
UTSW |
11 |
94,359,899 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0064:Abcc3
|
UTSW |
11 |
94,363,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Abcc3
|
UTSW |
11 |
94,361,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Abcc3
|
UTSW |
11 |
94,357,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTCAAAAGAGGAAAGGCC -3'
(R):5'- CGAGGTTACCACAATGTCAAAC -3'
Sequencing Primer
(F):5'- CCTGGAGACTCAATTGATAGGCTTC -3'
(R):5'- GAGGTTACCACAATGTCAAACTGTTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation