Incidental Mutation 'R4298:Abcc12'
ID 323429
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 041086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4298 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 87231197-87307317 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 87258154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000152438] [ENSMUST00000156610]
AlphaFold Q80WJ6
Predicted Effect probably null
Transcript: ENSMUST00000080115
SMART Domains Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872

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 null
Transcript: ENSMUST00000131423
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872

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 null
Transcript: ENSMUST00000131423
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872

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 silent
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccser2 T A 14: 36,612,337 (GRCm39) Q158L possibly damaging Het
Cct7 T A 6: 85,445,155 (GRCm39) C469S probably damaging Het
Chmp7 A T 14: 69,956,650 (GRCm39) probably null Het
Clcn4 C T 7: 7,299,737 (GRCm39) D31N possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp4a10 T C 4: 115,389,889 (GRCm39) L498P probably damaging Het
Dsc3 A T 18: 20,113,811 (GRCm39) N370K possibly damaging Het
Dusp12 G A 1: 170,708,198 (GRCm39) T173M probably benign Het
Ebf3 C T 7: 136,826,958 (GRCm39) R318Q possibly damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Erich6 G T 3: 58,531,712 (GRCm39) A428D probably benign Het
Ext1 A T 15: 53,208,521 (GRCm39) I80N probably benign Het
Extl1 T C 4: 134,084,969 (GRCm39) E667G probably damaging Het
F2 T G 2: 91,459,665 (GRCm39) probably null Het
Fbxw16 T C 9: 109,275,625 (GRCm39) I135V probably benign Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Lmbrd2 G A 15: 9,165,882 (GRCm39) R252H possibly damaging Het
Lyst A G 13: 13,809,472 (GRCm39) T381A probably damaging Het
Mcpt4 A T 14: 56,298,444 (GRCm39) V97D possibly damaging Het
Nefh A G 11: 4,890,066 (GRCm39) I851T probably benign Het
Nf1 A T 11: 79,275,070 (GRCm39) I44F probably damaging Het
Nyap2 A T 1: 81,218,811 (GRCm39) I278F probably damaging Het
Or4c52 A T 2: 89,845,993 (GRCm39) T240S probably benign Het
Or4f7d-ps1 G T 2: 111,674,789 (GRCm39) noncoding transcript Het
Pdcd4 C A 19: 53,908,092 (GRCm39) P201Q probably damaging Het
Pramel16 A T 4: 143,675,713 (GRCm39) L371* probably null Het
Prdm11 T C 2: 92,823,728 (GRCm39) T179A probably benign Het
Qrfpr T A 3: 36,243,703 (GRCm39) I133F probably damaging Het
Rack1 T C 11: 48,692,453 (GRCm39) probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sag G C 1: 87,772,737 (GRCm39) D402H probably benign Het
Sbk3 T A 7: 4,972,979 (GRCm39) T64S probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3gl1 C T 17: 56,326,173 (GRCm39) G111D probably damaging Het
Spata20 G A 11: 94,373,914 (GRCm39) R379W probably damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stk39 C T 2: 68,221,284 (GRCm39) G213D probably damaging Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Taf1d T C 9: 15,219,939 (GRCm39) S63P probably damaging Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Ttn G T 2: 76,554,394 (GRCm39) A30807D probably damaging Het
Unc119 A G 11: 78,238,948 (GRCm39) N158S probably damaging Het
Vmn2r116 T A 17: 23,620,801 (GRCm39) I845N possibly damaging Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Zdhhc4 A G 5: 143,309,997 (GRCm39) V87A probably damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null 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
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
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'- ACCTGGCAGCTTTAATGGAG -3'
(R):5'- CAAGGACCTTAGCAGTGGAG -3'

Sequencing Primer
(F):5'- CCATTTAAAGGGCTGTATTATCAGAC -3'
(R):5'- CCTTAGCAGTGGAGGGGAGC -3'
Posted On 2015-06-20