Incidental Mutation 'R3708:Abcc5'
| ID |
259458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc5
|
| Ensembl Gene |
ENSMUSG00000022822 |
| Gene Name |
ATP-binding cassette, sub-family C member 5 |
| Synonyms |
2900011L11Rik, Abcc5b, Abcc5a, Mrp5 |
| MMRRC Submission |
040701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20150053-20245144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20190930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 807
(Q807K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079158]
[ENSMUST00000115547]
|
| AlphaFold |
Q9R1X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079158
AA Change: Q807K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: Q807K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
179 |
447 |
1.6e-18 |
PFAM |
|
low complexity region
|
552 |
563 |
N/A |
INTRINSIC |
|
AAA
|
587 |
760 |
1.16e-12 |
SMART |
|
low complexity region
|
815 |
826 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
858 |
1142 |
9.3e-36 |
PFAM |
|
AAA
|
1218 |
1403 |
1.26e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115547
AA Change: Q807K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: Q807K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
179 |
447 |
2e-17 |
PFAM |
|
low complexity region
|
552 |
563 |
N/A |
INTRINSIC |
|
AAA
|
587 |
760 |
1.16e-12 |
SMART |
|
low complexity region
|
815 |
826 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
858 |
1146 |
6.5e-30 |
PFAM |
|
AAA
|
1218 |
1403 |
1.26e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134413
|
| Meta Mutation Damage Score |
0.0587 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: The membrane-associated 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 human protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that the human protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(81) : Targeted(4) Gene trapped(77)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn7l3 |
G |
A |
11: 102,182,705 (GRCm39) |
|
probably benign |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
| Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
| Gpr39 |
C |
T |
1: 125,800,349 (GRCm39) |
H367Y |
probably damaging |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Nup50l |
G |
A |
6: 96,142,933 (GRCm39) |
T37I |
possibly damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
| Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
| Or52r1c |
T |
G |
7: 102,735,501 (GRCm39) |
Y254D |
probably damaging |
Het |
| Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
| Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
| Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
| Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
| Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,300,136 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abcc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Abcc5
|
APN |
16 |
20,241,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00928:Abcc5
|
APN |
16 |
20,217,720 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01350:Abcc5
|
APN |
16 |
20,187,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01774:Abcc5
|
APN |
16 |
20,197,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Abcc5
|
APN |
16 |
20,241,191 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02413:Abcc5
|
APN |
16 |
20,241,187 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02426:Abcc5
|
APN |
16 |
20,157,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02797:Abcc5
|
APN |
16 |
20,187,214 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02938:Abcc5
|
APN |
16 |
20,180,979 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03367:Abcc5
|
APN |
16 |
20,211,561 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03411:Abcc5
|
APN |
16 |
20,218,310 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4508001:Abcc5
|
UTSW |
16 |
20,176,128 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0021:Abcc5
|
UTSW |
16 |
20,197,411 (GRCm39) |
nonsense |
probably null |
|
|
R0021:Abcc5
|
UTSW |
16 |
20,197,411 (GRCm39) |
nonsense |
probably null |
|
|
R0220:Abcc5
|
UTSW |
16 |
20,187,852 (GRCm39) |
missense |
probably benign |
|
|
R0281:Abcc5
|
UTSW |
16 |
20,241,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Abcc5
|
UTSW |
16 |
20,195,308 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0448:Abcc5
|
UTSW |
16 |
20,218,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Abcc5
|
UTSW |
16 |
20,217,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0477:Abcc5
|
UTSW |
16 |
20,187,319 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0601:Abcc5
|
UTSW |
16 |
20,223,309 (GRCm39) |
splice site |
probably benign |
|
|
R0648:Abcc5
|
UTSW |
16 |
20,184,632 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0709:Abcc5
|
UTSW |
16 |
20,195,342 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1144:Abcc5
|
UTSW |
16 |
20,241,188 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1552:Abcc5
|
UTSW |
16 |
20,217,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Abcc5
|
UTSW |
16 |
20,184,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1748:Abcc5
|
UTSW |
16 |
20,152,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1789:Abcc5
|
UTSW |
16 |
20,184,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Abcc5
|
UTSW |
16 |
20,157,637 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1909:Abcc5
|
UTSW |
16 |
20,195,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2046:Abcc5
|
UTSW |
16 |
20,218,567 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2203:Abcc5
|
UTSW |
16 |
20,224,632 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3031:Abcc5
|
UTSW |
16 |
20,193,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3417:Abcc5
|
UTSW |
16 |
20,224,302 (GRCm39) |
splice site |
probably benign |
|
|
R3731:Abcc5
|
UTSW |
16 |
20,217,684 (GRCm39) |
nonsense |
probably null |
|
|
R3829:Abcc5
|
UTSW |
16 |
20,184,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3847:Abcc5
|
UTSW |
16 |
20,190,906 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3850:Abcc5
|
UTSW |
16 |
20,190,906 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3955:Abcc5
|
UTSW |
16 |
20,224,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4072:Abcc5
|
UTSW |
16 |
20,152,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Abcc5
|
UTSW |
16 |
20,186,937 (GRCm39) |
splice site |
probably null |
|
|
R4433:Abcc5
|
UTSW |
16 |
20,186,937 (GRCm39) |
splice site |
probably null |
|
|
R4505:Abcc5
|
UTSW |
16 |
20,152,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4506:Abcc5
|
UTSW |
16 |
20,152,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Abcc5
|
UTSW |
16 |
20,217,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Abcc5
|
UTSW |
16 |
20,218,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Abcc5
|
UTSW |
16 |
20,241,182 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4905:Abcc5
|
UTSW |
16 |
20,218,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Abcc5
|
UTSW |
16 |
20,195,296 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5088:Abcc5
|
UTSW |
16 |
20,195,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Abcc5
|
UTSW |
16 |
20,157,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5559:Abcc5
|
UTSW |
16 |
20,157,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Abcc5
|
UTSW |
16 |
20,218,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Abcc5
|
UTSW |
16 |
20,218,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Abcc5
|
UTSW |
16 |
20,211,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6213:Abcc5
|
UTSW |
16 |
20,218,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Abcc5
|
UTSW |
16 |
20,195,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6732:Abcc5
|
UTSW |
16 |
20,223,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6815:Abcc5
|
UTSW |
16 |
20,152,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Abcc5
|
UTSW |
16 |
20,197,494 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6945:Abcc5
|
UTSW |
16 |
20,218,759 (GRCm39) |
missense |
probably benign |
|
|
R7167:Abcc5
|
UTSW |
16 |
20,224,251 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7276:Abcc5
|
UTSW |
16 |
20,195,258 (GRCm39) |
splice site |
probably null |
|
|
R7318:Abcc5
|
UTSW |
16 |
20,211,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7380:Abcc5
|
UTSW |
16 |
20,215,784 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7419:Abcc5
|
UTSW |
16 |
20,241,173 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7451:Abcc5
|
UTSW |
16 |
20,193,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Abcc5
|
UTSW |
16 |
20,218,739 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7567:Abcc5
|
UTSW |
16 |
20,224,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Abcc5
|
UTSW |
16 |
20,193,882 (GRCm39) |
nonsense |
probably null |
|
|
R7623:Abcc5
|
UTSW |
16 |
20,163,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7682:Abcc5
|
UTSW |
16 |
20,186,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Abcc5
|
UTSW |
16 |
20,184,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8327:Abcc5
|
UTSW |
16 |
20,241,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8518:Abcc5
|
UTSW |
16 |
20,223,398 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8678:Abcc5
|
UTSW |
16 |
20,184,685 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8679:Abcc5
|
UTSW |
16 |
20,152,479 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9206:Abcc5
|
UTSW |
16 |
20,208,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9254:Abcc5
|
UTSW |
16 |
20,152,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Abcc5
|
UTSW |
16 |
20,152,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Abcc5
|
UTSW |
16 |
20,214,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Abcc5
|
UTSW |
16 |
20,195,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Abcc5
|
UTSW |
16 |
20,211,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Abcc5
|
UTSW |
16 |
20,182,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAACTTCCCTTGTTTGAGC -3'
(R):5'- GGCCTGACACAGATGCTTAG -3'
Sequencing Primer
(F):5'- TTGTTTGAGCACACCCAAGG -3'
(R):5'- GGGTCCTGTAGACATTCAT -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation