Incidental Mutation 'R2402:Abcc12'
ID 248749
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 040368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2402 (G1)
Quality Score 223
Status Not validated
Chromosome 8
Chromosomal Location 87231197-87307317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87235770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1199 (D1199V)
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: D1199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: D1199V

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: D1199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: D1199V

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: D484V
SMART Domains Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: D484V

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
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 92.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,664,999 (GRCm39) S277R probably benign Het
Acvrl1 A G 15: 101,035,280 (GRCm39) S269G probably damaging Het
Akap10 T C 11: 61,806,048 (GRCm39) S227G probably benign Het
Angptl8 T C 9: 21,747,112 (GRCm39) probably null Het
Arsi T C 18: 61,049,539 (GRCm39) S141P possibly damaging Het
Atic T A 1: 71,608,216 (GRCm39) Y303* probably null Het
Bbs9 C T 9: 22,557,359 (GRCm39) P510L probably benign Het
Bcl2a1b A G 9: 89,081,795 (GRCm39) N128S probably benign Het
Bcl2a1d A T 9: 88,613,549 (GRCm39) M75K probably damaging Het
Carm1 T A 9: 21,494,836 (GRCm39) L324Q probably damaging Het
Caskin1 T A 17: 24,722,782 (GRCm39) L550Q probably damaging Het
Cd302 A G 2: 60,087,412 (GRCm39) I142T probably benign Het
Cep350 A T 1: 155,738,882 (GRCm39) D2320E probably benign Het
Cgnl1 A G 9: 71,632,461 (GRCm39) S297P probably damaging Het
Cr1l T A 1: 194,789,210 (GRCm39) Y398F probably benign Het
Ctsa A T 2: 164,676,813 (GRCm39) D145V probably benign Het
Ctsj C T 13: 61,148,388 (GRCm39) G303D probably damaging Het
Dnah17 T C 11: 118,016,800 (GRCm39) I250M probably benign Het
Doc2a C A 7: 126,447,919 (GRCm39) C54* probably null Het
Dpy19l2 T C 9: 24,492,544 (GRCm39) T685A probably damaging Het
Dtna T A 18: 23,728,535 (GRCm39) C243* probably null Het
Exoc3l4 A G 12: 111,388,690 (GRCm39) T60A possibly damaging Het
Exph5 C A 9: 53,286,225 (GRCm39) S1102* probably null Het
Fhl3 T C 4: 124,599,481 (GRCm39) Y19H probably damaging Het
Flt4 A G 11: 49,528,646 (GRCm39) E1012G possibly damaging Het
Flvcr2 A G 12: 85,829,777 (GRCm39) N262S probably benign Het
Gon4l G T 3: 88,766,350 (GRCm39) C463F probably damaging Het
H2-T10 A T 17: 36,428,631 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,200 (GRCm39) C185R probably benign Het
Hectd1 A G 12: 51,792,317 (GRCm39) V2474A probably benign Het
Htr3a C T 9: 48,812,795 (GRCm39) E215K probably damaging Het
Ica1l T C 1: 60,045,451 (GRCm39) T271A probably benign Het
Klra2 A G 6: 131,220,864 (GRCm39) I66T probably benign Het
Neto2 T C 8: 86,417,541 (GRCm39) K21R probably benign Het
Niban1 A G 1: 151,565,365 (GRCm39) T232A probably benign Het
Nisch T A 14: 30,906,971 (GRCm39) probably benign Het
Nr4a1 G T 15: 101,169,618 (GRCm39) R296L probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or7g19 T A 9: 18,856,496 (GRCm39) I184N probably damaging Het
Or8b50 T C 9: 38,518,397 (GRCm39) V212A probably benign Het
Pcsk5 A T 19: 17,452,198 (GRCm39) C1102* probably null Het
Phip C T 9: 82,757,358 (GRCm39) A1605T probably benign Het
Pstpip2 T A 18: 77,942,564 (GRCm39) M105K possibly damaging Het
Qprt C T 7: 126,707,532 (GRCm39) V219I probably benign Het
Ralgapa2 A T 2: 146,195,112 (GRCm39) N1271K probably damaging Het
Reg3g A T 6: 78,444,475 (GRCm39) L106H probably damaging Het
Rhobtb1 G A 10: 69,106,254 (GRCm39) G273D probably benign Het
Rimbp2 T C 5: 128,861,952 (GRCm39) D771G probably damaging Het
Sos2 T C 12: 69,643,573 (GRCm39) I935V possibly damaging Het
Tcf12 A T 9: 71,763,792 (GRCm39) N397K probably damaging Het
Tgtp2 T C 11: 48,949,957 (GRCm39) Q205R probably benign Het
Tle5 T A 10: 81,400,712 (GRCm39) C89S possibly damaging Het
Tubb2b T C 13: 34,312,209 (GRCm39) N195D probably benign Het
Unc13b A G 4: 43,095,843 (GRCm39) T84A probably benign Het
Usb1 T A 8: 96,069,759 (GRCm39) F102L probably benign Het
Vmn2r61 A G 7: 41,949,529 (GRCm39) T650A possibly damaging Het
Zbtb41 A C 1: 139,350,923 (GRCm39) D12A probably benign Het
Zbtb41 G T 1: 139,350,925 (GRCm39) E13* probably null Het
Zfp821 C T 8: 110,447,872 (GRCm39) S71F probably 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
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'- CTGAGCTAAGACTGCCAAGAAC -3'
(R):5'- ATGAGCGATGTCTGCCTTG -3'

Sequencing Primer
(F):5'- TGCCAAGAACAGCCATGG -3'
(R):5'- TTGCAGAGTCATCCACATGG -3'
Posted On 2014-11-11