Incidental Mutation 'R7619:Abcc12'
| ID |
589058 |
| 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 |
045686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87293182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 2
(V2A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000152438]
[ENSMUST00000156610]
|
| AlphaFold |
Q80WJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080115
AA Change: V2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: V2A
| 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 |
probably damaging
Transcript: ENSMUST00000129898
AA Change: V2A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872
AA Change: V2A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
|
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131423
AA Change: V2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: V2A
| 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 |
probably damaging
Transcript: ENSMUST00000131806
AA Change: V2A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872
AA Change: V2A
| 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 |
probably damaging
Transcript: ENSMUST00000152438
AA Change: V2A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114582
Gene: ENSMUSG00000036872
AA Change: V2A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
|
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156610
AA Change: V2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123578
Gene: ENSMUSG00000036872
AA Change: V2A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
G |
16: 14,263,283 (GRCm39) |
P748A |
probably damaging |
Het |
| Anxa3 |
T |
C |
5: 96,978,263 (GRCm39) |
Y216H |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,041,668 (GRCm39) |
T317K |
probably benign |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,483 (GRCm39) |
L34S |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,504 (GRCm39) |
F172S |
probably damaging |
Het |
| Ccl27a |
G |
A |
4: 41,774,166 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,752,342 (GRCm39) |
N480D |
|
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,076 (GRCm39) |
S603P |
possibly damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,443 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,323,475 (GRCm39) |
I626V |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,416,930 (GRCm39) |
N821S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,238,509 (GRCm39) |
L1723S |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,492,399 (GRCm39) |
M245K |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,501,967 (GRCm39) |
T536A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,213,299 (GRCm39) |
R963S |
possibly damaging |
Het |
| Fbxo42 |
T |
G |
4: 140,927,673 (GRCm39) |
I651S |
possibly damaging |
Het |
| Ggnbp1 |
T |
A |
17: 27,237,105 (GRCm39) |
M1K |
probably null |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grid2 |
T |
C |
6: 63,908,085 (GRCm39) |
F242L |
possibly damaging |
Het |
| Igf2r |
A |
G |
17: 12,917,160 (GRCm39) |
V1580A |
possibly damaging |
Het |
| Marchf4 |
A |
G |
1: 72,574,148 (GRCm39) |
V50A |
possibly damaging |
Het |
| Mettl15 |
T |
A |
2: 108,923,220 (GRCm39) |
R401* |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,301,106 (GRCm39) |
H1309Q |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,252 (GRCm39) |
Y412H |
probably damaging |
Het |
| Myef2 |
C |
T |
2: 124,965,396 (GRCm39) |
G15S |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,880,846 (GRCm39) |
I183N |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,454,886 (GRCm39) |
E2644G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,186,438 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or52l1 |
A |
G |
7: 104,829,956 (GRCm39) |
V203A |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,202 (GRCm39) |
H398L |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,805 (GRCm39) |
S545G |
probably damaging |
Het |
| Pramel19 |
T |
G |
4: 101,798,497 (GRCm39) |
F156C |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,991 (GRCm39) |
S4G |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,557,175 (GRCm39) |
E420G |
probably benign |
Het |
| Sap30l |
G |
A |
11: 57,698,887 (GRCm39) |
R120H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,247 (GRCm39) |
F937L |
probably damaging |
Het |
| Sdf2 |
G |
A |
11: 78,141,989 (GRCm39) |
G108D |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,381,305 (GRCm39) |
S1263G |
unknown |
Het |
| Stab1 |
A |
G |
14: 30,867,194 (GRCm39) |
I1722T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Tcp11l2 |
T |
C |
10: 84,430,622 (GRCm39) |
F249S |
probably damaging |
Het |
| Thoc7 |
T |
A |
14: 13,961,819 (GRCm38) |
|
probably null |
Het |
| Tvp23a |
C |
A |
16: 10,246,602 (GRCm39) |
C61F |
probably damaging |
Het |
| Ubfd1 |
G |
A |
7: 121,666,606 (GRCm39) |
G34D |
probably benign |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,967 (GRCm39) |
T107S |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,457 (GRCm39) |
K133I |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,436,190 (GRCm39) |
|
probably null |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfp354c |
C |
T |
11: 50,708,635 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
G |
T |
9: 20,260,206 (GRCm39) |
Q219K |
probably benign |
Het |
| Zfp691 |
C |
T |
4: 119,028,181 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,661,810 (GRCm39) |
M1K |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,169 (GRCm39) |
F454S |
probably benign |
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 |
|
R5900:Abcc12
|
UTSW |
8 |
87,293,149 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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'- ATACGGAGCAGTACCTTGCG -3'
(R):5'- AGGTGCCTCAAATACAGGTTAAGG -3'
Sequencing Primer
(F):5'- AGCAGTACCTTGCGAGCAG -3'
(R):5'- CCTCAAATACAGGTTAAGGGGTTTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation