Incidental Mutation 'R0132:Abcc12'
ID 21692
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 038417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R0132 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 87231197-87307317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87258197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 773 (I773T)
Ref Sequence ENSEMBL: ENSMUSP00000122402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000152438] [ENSMUST00000156610]
AlphaFold Q80WJ6
Predicted Effect probably benign
Transcript: ENSMUST00000080115
AA Change: I773T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: I773T

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 benign
Transcript: ENSMUST00000131423
AA Change: I773T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: I773T

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 probably benign
Transcript: ENSMUST00000152438
SMART Domains Protein: ENSMUSP00000114582
Gene: ENSMUSG00000036872

DomainStartEndE-ValueType
Pfam:ABC_membrane 123 392 1.2e-19 PFAM
AAA 506 679 3.33e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000156066
AA Change: I58T
SMART Domains Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: I58T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.2%
  • 20x: 84.8%
Validation Efficiency 90% (52/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Anxa5 G A 3: 36,504,821 (GRCm39) A247V probably damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Chrnb2 T C 3: 89,671,713 (GRCm39) M1V probably null Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Dazap1 T G 10: 80,114,060 (GRCm39) probably null Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Slc35d1 C T 4: 103,065,378 (GRCm39) V189I probably benign Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Ugt2a2 T A 5: 87,622,720 (GRCm39) K293* probably null Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign Het
Other mutations in Abcc12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAATGGCTTCTGACTACTGCCCAC -3'
(R):5'- TTAGGCTTCAAGTCACACGCCC -3'

Sequencing Primer
(F):5'- CAGAACCTGGCAGCTTTAATG -3'
(R):5'- TAGACCATTGAAAGTGTGTGAAAAAC -3'
Posted On 2013-04-11