Incidental Mutation 'IGL02164:Abcc12'
ID282561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc12
Ensembl Gene ENSMUSG00000036872
Gene NameATP-binding cassette, sub-family C (CFTR/MRP), member 12
Synonyms4930467B22Rik, MRP9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02164
Quality Score
Status
Chromosome8
Chromosomal Location86482260-86580686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86527404 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 917 (D917V)
Ref Sequence ENSEMBL: ENSMUSP00000122402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000156610]
Predicted Effect probably damaging
Transcript: ENSMUST00000080115
AA Change: D917V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: D917V

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000129898
SMART Domains Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872

DomainStartEndE-ValueType
Pfam:ABC_membrane 123 392 1.2e-19 PFAM
AAA 506 679 3.33e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131423
AA Change: D917V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: D917V

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000131806
SMART Domains Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000156066
AA Change: D202V
SMART Domains Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: D202V

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
Pfam:ABC_membrane 78 363 3.8e-35 PFAM
Pfam:ABC_tran 430 508 5.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156610
SMART Domains Protein: ENSMUSP00000123578
Gene: ENSMUSG00000036872

DomainStartEndE-ValueType
Pfam:ABC_membrane 123 392 5.9e-20 PFAM
AAA 506 661 1.07e-7 SMART
Coding Region Coverage
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T C 13: 98,984,207 K104E probably damaging Het
4930578C19Rik T A X: 18,418,953 R421* probably null Het
5730480H06Rik T A 5: 48,380,182 V187E probably benign Het
Abhd15 A T 11: 77,516,014 E272D probably benign Het
Adat3 T A 10: 80,606,627 S100T probably benign Het
Adgrg6 T C 10: 14,523,555 probably benign Het
Alpl C T 4: 137,753,979 V121M probably damaging Het
Ano1 A T 7: 144,637,181 Y388N possibly damaging Het
Arrdc4 C T 7: 68,739,537 probably benign Het
Asxl2 A G 12: 3,502,079 M1274V probably benign Het
BC048403 A G 10: 121,750,770 Y194C probably damaging Het
Bmt2 G T 6: 13,628,879 N268K possibly damaging Het
Bpifb2 C A 2: 153,883,562 L176M probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cd14 T C 18: 36,725,785 R206G possibly damaging Het
Cfap65 G T 1: 74,928,145 T215K possibly damaging Het
Chd9 T C 8: 90,933,221 S270P possibly damaging Het
Cidea C T 18: 67,366,511 S156L probably damaging Het
Col5a3 A G 9: 20,792,643 probably null Het
Cspg5 T C 9: 110,251,036 V424A probably damaging Het
Ctc1 A G 11: 69,026,096 H272R probably damaging Het
D5Ertd579e A T 5: 36,614,959 S697R probably damaging Het
Dennd3 T C 15: 73,544,448 S516P probably benign Het
Dlgap4 G A 2: 156,711,139 R509H probably damaging Het
Dus3l T C 17: 56,767,943 probably benign Het
Dync1h1 G T 12: 110,662,559 W4183C probably damaging Het
Eif2s3x A T X: 94,205,072 M152K possibly damaging Het
Epb41l1 C T 2: 156,494,949 probably benign Het
Ephx2 A G 14: 66,103,720 probably benign Het
Fabp12 T A 3: 10,246,015 Y129F probably damaging Het
Fat3 A G 9: 16,031,424 probably benign Het
Fat4 T C 3: 38,996,205 probably null Het
Gnb1 T A 4: 155,557,174 probably null Het
Gpr107 C A 2: 31,178,286 Y253* probably null Het
Grb10 C T 11: 11,943,962 E320K probably damaging Het
Gucy2g G T 19: 55,238,023 H154N probably benign Het
Hemk1 T A 9: 107,331,536 H154L probably benign Het
Hk2 A T 6: 82,743,939 probably null Het
Htr5a A G 5: 27,842,465 N6S probably damaging Het
Htra3 T C 5: 35,653,066 D424G probably benign Het
Ift52 A G 2: 163,025,464 probably null Het
Igdcc4 A G 9: 65,124,782 probably benign Het
Itpr1 A G 6: 108,389,483 K124E probably benign Het
Kcnc2 T A 10: 112,455,685 N259K possibly damaging Het
Lmod2 A T 6: 24,603,910 I295F possibly damaging Het
Lrp1 T C 10: 127,563,667 E2324G probably benign Het
Lss T C 10: 76,536,260 S150P probably damaging Het
Macf1 T C 4: 123,480,272 N1515S probably benign Het
Mapk11 T C 15: 89,145,448 probably null Het
Mc3r T A 2: 172,249,394 F179I probably damaging Het
Mtmr9 T A 14: 63,530,288 N291Y probably damaging Het
Myo1h T C 5: 114,334,096 F396L probably damaging Het
Nek2 A G 1: 191,827,304 K307R probably benign Het
Olfr102 C A 17: 37,313,687 M232I probably benign Het
Osmr G A 15: 6,842,048 T296I probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pfkp C T 13: 6,597,915 V542M probably damaging Het
Pmpca C T 2: 26,395,569 S519L probably benign Het
Ptgds A T 2: 25,469,112 Y44N probably damaging Het
Raly T A 2: 154,859,929 Y116* probably null Het
Rock2 A G 12: 16,965,529 D809G probably damaging Het
Sgsm2 T G 11: 74,865,416 N369T possibly damaging Het
Slc6a15 A G 10: 103,418,222 D673G probably benign Het
Spire2 A T 8: 123,332,964 D67V probably damaging Het
St7l T C 3: 104,922,281 probably null Het
Stau2 A G 1: 16,345,828 L469P probably damaging Het
Tefm A G 11: 80,140,089 L107S probably damaging Het
Ticam1 A T 17: 56,270,019 V692D unknown Het
Tipin T A 9: 64,294,349 D143E probably damaging Het
Tmem132c C A 5: 127,536,377 T448K probably damaging Het
Trav8-1 A T 14: 53,469,756 M1L unknown Het
Ttn C A 2: 76,738,797 V27251F probably damaging Het
Uvrag A T 7: 99,004,689 C31* probably null Het
Zap70 T C 1: 36,771,186 Y126H probably damaging Het
Zfp644 A G 5: 106,638,099 V194A probably benign Het
Zfp663 C T 2: 165,359,048 W22* probably null Het
Other mutations in Abcc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Abcc12 APN 8 86534693 missense probably benign 0.45
IGL01504:Abcc12 APN 8 86557602 missense probably damaging 1.00
IGL01593:Abcc12 APN 8 86557650 missense probably damaging 1.00
IGL02173:Abcc12 APN 8 86566442 missense probably damaging 1.00
IGL02175:Abcc12 APN 8 86535013 splice site probably null
IGL02405:Abcc12 APN 8 86558153 missense probably damaging 0.98
IGL02620:Abcc12 APN 8 86505314 splice site probably null
IGL02635:Abcc12 APN 8 86509682 splice site probably benign
IGL03241:Abcc12 APN 8 86509807 missense possibly damaging 0.77
PIT4544001:Abcc12 UTSW 8 86505246 missense possibly damaging 0.58
R0023:Abcc12 UTSW 8 86538333 missense probably damaging 1.00
R0023:Abcc12 UTSW 8 86538333 missense probably damaging 1.00
R0116:Abcc12 UTSW 8 86534998 missense probably benign 0.00
R0131:Abcc12 UTSW 8 86531568 missense probably benign
R0131:Abcc12 UTSW 8 86531568 missense probably benign
R0132:Abcc12 UTSW 8 86531568 missense probably benign
R0308:Abcc12 UTSW 8 86557752 splice site probably benign
R0589:Abcc12 UTSW 8 86560472 missense possibly damaging 0.86
R1451:Abcc12 UTSW 8 86557693 missense probably damaging 1.00
R1564:Abcc12 UTSW 8 86517486 missense probably benign 0.10
R1740:Abcc12 UTSW 8 86505497 nonsense probably null
R1740:Abcc12 UTSW 8 86509771 missense possibly damaging 0.78
R1970:Abcc12 UTSW 8 86527281 missense probably benign 0.27
R2017:Abcc12 UTSW 8 86563988 missense probably damaging 1.00
R2026:Abcc12 UTSW 8 86558233 missense probably benign 0.30
R2402:Abcc12 UTSW 8 86509141 missense probably damaging 1.00
R3085:Abcc12 UTSW 8 86543907 splice site probably benign
R3115:Abcc12 UTSW 8 86540024 critical splice donor site probably null
R3176:Abcc12 UTSW 8 86506866 missense probably damaging 1.00
R3276:Abcc12 UTSW 8 86506866 missense probably damaging 1.00
R3847:Abcc12 UTSW 8 86553391 missense probably benign 0.05
R3911:Abcc12 UTSW 8 86528419 splice site probably benign
R4031:Abcc12 UTSW 8 86517448 missense probably damaging 1.00
R4297:Abcc12 UTSW 8 86531525 splice site probably null
R4298:Abcc12 UTSW 8 86531525 splice site probably null
R4299:Abcc12 UTSW 8 86531525 splice site probably null
R4688:Abcc12 UTSW 8 86548694 missense possibly damaging 0.46
R4810:Abcc12 UTSW 8 86560842 missense probably damaging 1.00
R4863:Abcc12 UTSW 8 86538376 missense probably damaging 1.00
R4892:Abcc12 UTSW 8 86509802 missense probably benign 0.28
R5288:Abcc12 UTSW 8 86566539 missense probably damaging 1.00
R5303:Abcc12 UTSW 8 86509786 missense probably benign 0.15
R5332:Abcc12 UTSW 8 86524830 splice site probably null
R5386:Abcc12 UTSW 8 86517489 missense possibly damaging 0.82
R5457:Abcc12 UTSW 8 86509844 missense probably benign 0.03
R5900:Abcc12 UTSW 8 86566520 missense possibly damaging 0.90
R6035:Abcc12 UTSW 8 86517404 missense probably damaging 0.98
R6035:Abcc12 UTSW 8 86517404 missense probably damaging 0.98
R6291:Abcc12 UTSW 8 86566544 missense possibly damaging 0.72
R6518:Abcc12 UTSW 8 86509089
R6677:Abcc12 UTSW 8 86534752 missense possibly damaging 0.58
R7258:Abcc12 UTSW 8 86560857 missense possibly damaging 0.94
R7411:Abcc12 UTSW 8 86560850 missense possibly damaging 0.95
R7619:Abcc12 UTSW 8 86566553 missense probably damaging 1.00
R7808:Abcc12 UTSW 8 86507939 missense probably benign 0.03
R7828:Abcc12 UTSW 8 86528275 missense probably benign 0.08
R7834:Abcc12 UTSW 8 86531550 missense possibly damaging 0.81
R7834:Abcc12 UTSW 8 86558230 missense probably damaging 1.00
R7917:Abcc12 UTSW 8 86531550 missense possibly damaging 0.81
R7917:Abcc12 UTSW 8 86558230 missense probably damaging 1.00
X0027:Abcc12 UTSW 8 86553291 missense probably damaging 0.99
Z1088:Abcc12 UTSW 8 86560279 synonymous probably null
Z1176:Abcc12 UTSW 8 86550601 missense probably damaging 1.00
Z1177:Abcc12 UTSW 8 86527384 missense possibly damaging 0.93
Posted On2015-04-16