Incidental Mutation 'R5900:Abcc12'
ID |
456271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc12
|
Ensembl Gene |
ENSMUSG00000036872 |
Gene Name |
ATP-binding cassette, sub-family C member 12 |
Synonyms |
MRP9, 4930467B22Rik |
MMRRC Submission |
044099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5900 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87293149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 13
(D13G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000152438]
[ENSMUST00000156610]
|
AlphaFold |
Q80WJ6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080115
AA Change: D13G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000079014 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
3.6e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
791 |
1079 |
1.3e-26 |
PFAM |
AAA
|
1153 |
1346 |
1.07e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129898
AA Change: D13G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122577 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131423
AA Change: D13G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122402 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.1e-21 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
792 |
1077 |
1.6e-34 |
PFAM |
AAA
|
1153 |
1346 |
1.07e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131806
AA Change: D13G
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116866 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.3e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152438
AA Change: D13G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114582 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156610
AA Change: D13G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123578 Gene: ENSMUSG00000036872 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
5.9e-20 |
PFAM |
AAA
|
506 |
661 |
1.07e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,169,982 (GRCm39) |
T1341S |
possibly damaging |
Het |
Adam24 |
T |
C |
8: 41,134,071 (GRCm39) |
V513A |
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,314,163 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,617,805 (GRCm39) |
T1995A |
probably benign |
Het |
Apoh |
G |
T |
11: 108,302,843 (GRCm39) |
K269N |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,175,319 (GRCm39) |
L1798F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,597 (GRCm39) |
C1454S |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,633 (GRCm39) |
D689G |
possibly damaging |
Het |
Cpa5 |
T |
C |
6: 30,615,115 (GRCm39) |
V84A |
probably damaging |
Het |
Ctsh |
T |
C |
9: 89,946,621 (GRCm39) |
I116T |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,199,515 (GRCm39) |
E1463V |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,166 (GRCm39) |
|
probably null |
Het |
Dstyk |
G |
A |
1: 132,384,717 (GRCm39) |
R737Q |
probably damaging |
Het |
Galr1 |
A |
G |
18: 82,411,982 (GRCm39) |
S295P |
probably damaging |
Het |
Gpx2 |
A |
G |
12: 76,839,653 (GRCm39) |
V115A |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,207,597 (GRCm39) |
I219V |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,244,445 (GRCm39) |
M214V |
possibly damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,291 (GRCm39) |
V124A |
possibly damaging |
Het |
Lrrcc1 |
T |
G |
3: 14,627,186 (GRCm39) |
S704R |
possibly damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,176 (GRCm39) |
Y301C |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,536,534 (GRCm39) |
V394D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,978,265 (GRCm39) |
D821E |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,564,156 (GRCm39) |
D1058G |
probably damaging |
Het |
Pld2 |
G |
A |
11: 70,446,888 (GRCm39) |
|
probably null |
Het |
Prdm2 |
A |
G |
4: 142,861,290 (GRCm39) |
S667P |
probably damaging |
Het |
Ptgdr2 |
A |
T |
19: 10,918,352 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,524,538 (GRCm39) |
T576I |
probably benign |
Het |
Safb |
T |
C |
17: 56,907,349 (GRCm39) |
C426R |
unknown |
Het |
Serpina9 |
G |
A |
12: 103,975,130 (GRCm39) |
R8* |
probably null |
Het |
Shank3 |
G |
A |
15: 89,387,593 (GRCm39) |
R254Q |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,694,837 (GRCm39) |
V306A |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,853 (GRCm39) |
T305A |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,105,005 (GRCm39) |
C463* |
probably null |
Het |
Tmem132d |
A |
T |
5: 128,346,336 (GRCm39) |
L62Q |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,784 (GRCm39) |
L2507H |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,451 (GRCm39) |
V702A |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,256,308 (GRCm39) |
I271T |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,805,125 (GRCm39) |
L2640I |
probably damaging |
Het |
Znrf3 |
G |
T |
11: 5,232,110 (GRCm39) |
H468N |
probably damaging |
Het |
|
Other mutations in Abcc12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Abcc12
|
APN |
8 |
87,261,322 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01504:Abcc12
|
APN |
8 |
87,284,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01593:Abcc12
|
APN |
8 |
87,284,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02164:Abcc12
|
APN |
8 |
87,254,033 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:Abcc12
|
APN |
8 |
87,293,071 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02175:Abcc12
|
APN |
8 |
87,261,642 (GRCm39) |
splice site |
probably null |
|
IGL02405:Abcc12
|
APN |
8 |
87,284,782 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02620:Abcc12
|
APN |
8 |
87,231,943 (GRCm39) |
splice site |
probably null |
|
IGL02635:Abcc12
|
APN |
8 |
87,236,311 (GRCm39) |
splice site |
probably benign |
|
IGL03241:Abcc12
|
APN |
8 |
87,236,436 (GRCm39) |
missense |
possibly damaging |
0.77 |
PIT4544001:Abcc12
|
UTSW |
8 |
87,231,875 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0023:Abcc12
|
UTSW |
8 |
87,264,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Abcc12
|
UTSW |
8 |
87,264,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Abcc12
|
UTSW |
8 |
87,261,627 (GRCm39) |
missense |
probably benign |
0.00 |
R0131:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0131:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0132:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0308:Abcc12
|
UTSW |
8 |
87,284,381 (GRCm39) |
splice site |
probably benign |
|
R0589:Abcc12
|
UTSW |
8 |
87,287,101 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1451:Abcc12
|
UTSW |
8 |
87,284,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1564:Abcc12
|
UTSW |
8 |
87,244,115 (GRCm39) |
missense |
probably benign |
0.10 |
R1740:Abcc12
|
UTSW |
8 |
87,236,400 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1740:Abcc12
|
UTSW |
8 |
87,232,126 (GRCm39) |
nonsense |
probably null |
|
R1970:Abcc12
|
UTSW |
8 |
87,253,910 (GRCm39) |
missense |
probably benign |
0.27 |
R2017:Abcc12
|
UTSW |
8 |
87,290,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Abcc12
|
UTSW |
8 |
87,284,862 (GRCm39) |
missense |
probably benign |
0.30 |
R2402:Abcc12
|
UTSW |
8 |
87,235,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Abcc12
|
UTSW |
8 |
87,270,536 (GRCm39) |
splice site |
probably benign |
|
R3115:Abcc12
|
UTSW |
8 |
87,266,653 (GRCm39) |
critical splice donor site |
probably null |
|
R3176:Abcc12
|
UTSW |
8 |
87,233,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R3276:Abcc12
|
UTSW |
8 |
87,233,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Abcc12
|
UTSW |
8 |
87,280,020 (GRCm39) |
missense |
probably benign |
0.05 |
R3911:Abcc12
|
UTSW |
8 |
87,255,048 (GRCm39) |
splice site |
probably benign |
|
R4031:Abcc12
|
UTSW |
8 |
87,244,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R4297:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4298:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4299:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4688:Abcc12
|
UTSW |
8 |
87,275,323 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4810:Abcc12
|
UTSW |
8 |
87,287,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Abcc12
|
UTSW |
8 |
87,265,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R4892:Abcc12
|
UTSW |
8 |
87,236,431 (GRCm39) |
missense |
probably benign |
0.28 |
R5288:Abcc12
|
UTSW |
8 |
87,293,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5303:Abcc12
|
UTSW |
8 |
87,236,415 (GRCm39) |
missense |
probably benign |
0.15 |
R5332:Abcc12
|
UTSW |
8 |
87,251,459 (GRCm39) |
splice site |
probably null |
|
R5386:Abcc12
|
UTSW |
8 |
87,244,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5457:Abcc12
|
UTSW |
8 |
87,236,473 (GRCm39) |
missense |
probably benign |
0.03 |
R6035:Abcc12
|
UTSW |
8 |
87,244,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R6035:Abcc12
|
UTSW |
8 |
87,244,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R6291:Abcc12
|
UTSW |
8 |
87,293,173 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6518:Abcc12
|
UTSW |
8 |
87,235,718 (GRCm39) |
|
|
|
R6677:Abcc12
|
UTSW |
8 |
87,261,381 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7258:Abcc12
|
UTSW |
8 |
87,287,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7411:Abcc12
|
UTSW |
8 |
87,287,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7619:Abcc12
|
UTSW |
8 |
87,293,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Abcc12
|
UTSW |
8 |
87,234,568 (GRCm39) |
missense |
probably benign |
0.03 |
R7828:Abcc12
|
UTSW |
8 |
87,254,904 (GRCm39) |
missense |
probably benign |
0.08 |
R7834:Abcc12
|
UTSW |
8 |
87,284,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R7834:Abcc12
|
UTSW |
8 |
87,258,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7939:Abcc12
|
UTSW |
8 |
87,275,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Abcc12
|
UTSW |
8 |
87,232,108 (GRCm39) |
missense |
probably benign |
0.02 |
R8290:Abcc12
|
UTSW |
8 |
87,238,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R8681:Abcc12
|
UTSW |
8 |
87,231,908 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8795:Abcc12
|
UTSW |
8 |
87,258,213 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8811:Abcc12
|
UTSW |
8 |
87,280,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Abcc12
|
UTSW |
8 |
87,243,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Abcc12
|
UTSW |
8 |
87,287,440 (GRCm39) |
missense |
probably benign |
0.45 |
R9711:Abcc12
|
UTSW |
8 |
87,275,388 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Abcc12
|
UTSW |
8 |
87,279,920 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Abcc12
|
UTSW |
8 |
87,286,908 (GRCm39) |
splice site |
probably null |
|
Z1176:Abcc12
|
UTSW |
8 |
87,277,230 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcc12
|
UTSW |
8 |
87,254,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATACGGAGCAGTACCTTGC -3'
(R):5'- TGCCTCAAATACAGGTTAAGGGG -3'
Sequencing Primer
(F):5'- AGCAGTACCTTGCGAGCAG -3'
(R):5'- TGTCCAAGGGCTCAAAGC -3'
|
Posted On |
2017-02-15 |