Incidental Mutation 'R6222:Abcc3'
| ID |
504092 |
| 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 |
044353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6222 (G1)
|
| Quality Score |
123.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94259431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 337
(F337L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021231
(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: F337L
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: F337L
| 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: ENSMUST00000151124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: F337L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: F337L
| 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: 99.2%
- 20x: 97.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
C |
14: 35,531,923 (GRCm39) |
*217W |
probably null |
Het |
| Abcc4 |
T |
A |
14: 118,767,368 (GRCm39) |
H903L |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,159,844 (GRCm39) |
K119* |
probably null |
Het |
| Als2 |
T |
C |
1: 59,219,284 (GRCm39) |
D1222G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,863,084 (GRCm39) |
Y296C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,922 (GRCm39) |
|
probably null |
Het |
| Arl10 |
T |
C |
13: 54,726,644 (GRCm39) |
F141L |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,616,988 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,479,147 (GRCm39) |
S197T |
possibly damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,463 (GRCm39) |
D392V |
probably damaging |
Het |
| Bmi1 |
T |
A |
2: 18,688,513 (GRCm39) |
M168K |
possibly damaging |
Het |
| C7 |
A |
T |
15: 5,041,423 (GRCm39) |
D494E |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,032,360 (GRCm39) |
N1221I |
probably benign |
Het |
| Cacng7 |
A |
G |
7: 3,385,128 (GRCm39) |
T10A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,691,643 (GRCm39) |
R108G |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,472 (GRCm39) |
K196N |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,649 (GRCm39) |
I112T |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,569,353 (GRCm39) |
S916G |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,454,569 (GRCm39) |
Y627* |
probably null |
Het |
| Fam204a |
A |
G |
19: 60,188,400 (GRCm39) |
|
probably null |
Het |
| Galnt1 |
T |
A |
18: 24,397,591 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,325,900 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
C |
T |
7: 41,196,006 (GRCm39) |
D244N |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,347,880 (GRCm39) |
T189A |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,226,336 (GRCm39) |
D2446N |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,966 (GRCm39) |
K194R |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,684 (GRCm39) |
H737Y |
probably damaging |
Het |
| Izumo4 |
C |
T |
10: 80,538,885 (GRCm39) |
R83W |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,782,522 (GRCm39) |
V219M |
probably damaging |
Het |
| Kiz |
A |
T |
2: 146,732,981 (GRCm39) |
S386C |
probably damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,327,047 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4c100 |
T |
C |
2: 88,329,614 (GRCm39) |
Y62H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,652 (GRCm39) |
K1828E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,460,097 (GRCm39) |
F194L |
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,357 (GRCm39) |
Q77L |
probably benign |
Het |
| Ruvbl2 |
G |
T |
7: 45,074,149 (GRCm39) |
D248E |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,798,070 (GRCm39) |
C20S |
probably benign |
Het |
| Sh2d4b |
A |
C |
14: 40,542,694 (GRCm39) |
S361A |
probably damaging |
Het |
| Snx2 |
T |
A |
18: 53,332,896 (GRCm39) |
L190* |
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,748,296 (GRCm39) |
Y755F |
possibly damaging |
Het |
| Styxl2 |
G |
T |
1: 165,926,214 (GRCm39) |
Q1133K |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,503,613 (GRCm39) |
Q930R |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,551,568 (GRCm39) |
G271V |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,192 (GRCm39) |
V367A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,221,866 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,820 (GRCm39) |
A1187V |
probably damaging |
Het |
| Wdr53 |
T |
C |
16: 32,075,482 (GRCm39) |
V229A |
probably benign |
Het |
| Zcchc10 |
T |
C |
11: 53,223,289 (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 |
|
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 |
|
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'- CTGACCTTCCTGTAGATGACAC -3'
(R):5'- TGAAAGTTCCTGTGGCCCTG -3'
Sequencing Primer
(F):5'- TGACACCTATAATAGCAGTCCGTAG -3'
(R):5'- GCTATTGCATGAGAGAAGAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation