Incidental Mutation 'R3176:Abcc12'
ID 475999
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 040614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3176 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 87231197-87307317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87233495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1269 (R1269H)
Ref Sequence ENSEMBL: ENSMUSP00000122402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000156610]
AlphaFold Q80WJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000080115
AA Change: R1269H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: R1269H

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: R1269H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: R1269H

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: ENSMUST00000156066
SMART Domains Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872

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 0.8122 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging 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
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
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
Posted On 2017-05-11