Incidental Mutation 'R5802:Abcc9'
ID 448782
Institutional Source Beutler Lab
Gene Symbol Abcc9
Ensembl Gene ENSMUSG00000030249
Gene Name ATP-binding cassette, sub-family C member 9
Synonyms SUR2A, Sur2, SUR2B
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142533588-142648041 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 142602402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000205202]
AlphaFold P70170
Predicted Effect probably null
Transcript: ENSMUST00000073173
SMART Domains Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
Pfam:ABC_membrane 297 583 7.7e-33 PFAM
AAA 659 867 3.11e-13 SMART
coiled coil region 881 935 N/A INTRINSIC
Pfam:ABC_membrane 956 1228 6.6e-35 PFAM
AAA 1300 1502 9.94e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000087527
SMART Domains Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
Pfam:ABC_membrane 297 583 8e-33 PFAM
AAA 694 902 3.11e-13 SMART
coiled coil region 916 970 N/A INTRINSIC
Pfam:ABC_membrane 991 1263 6.8e-35 PFAM
AAA 1335 1537 9.94e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100827
SMART Domains Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
Pfam:ABC_membrane 297 583 7.1e-35 PFAM
AAA 694 902 3.11e-13 SMART
coiled coil region 916 970 N/A INTRINSIC
Pfam:ABC_membrane 991 1263 5.2e-38 PFAM
AAA 1335 1520 5.13e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111771
SMART Domains Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
Pfam:ABC_membrane 297 583 1.4e-32 PFAM
AAA 694 889 3.77e-12 SMART
coiled coil region 903 957 N/A INTRINSIC
Pfam:ABC_membrane 978 1250 1.2e-34 PFAM
AAA 1322 1524 9.94e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000205202
SMART Domains Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
Pfam:ABC_membrane 297 583 6.9e-35 PFAM
AAA 659 867 3.11e-13 SMART
coiled coil region 881 935 N/A INTRINSIC
Pfam:ABC_membrane 956 1228 5e-38 PFAM
AAA 1300 1502 9.94e-12 SMART
Meta Mutation Damage Score 0.9482 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The human protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Abcc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Abcc9 APN 6 142,578,916 (GRCm39) splice site probably benign
IGL00670:Abcc9 APN 6 142,633,007 (GRCm39) missense probably damaging 1.00
IGL00675:Abcc9 APN 6 142,610,347 (GRCm39) missense probably damaging 1.00
IGL00741:Abcc9 APN 6 142,632,956 (GRCm39) missense probably benign
IGL01371:Abcc9 APN 6 142,602,340 (GRCm39) missense probably benign 0.04
IGL01686:Abcc9 APN 6 142,548,801 (GRCm39) missense possibly damaging 0.71
IGL01724:Abcc9 APN 6 142,610,259 (GRCm39) missense probably benign 0.00
IGL01807:Abcc9 APN 6 142,551,640 (GRCm39) missense probably damaging 1.00
IGL01941:Abcc9 APN 6 142,551,630 (GRCm39) missense probably damaging 1.00
IGL01946:Abcc9 APN 6 142,571,763 (GRCm39) missense probably benign 0.16
IGL02210:Abcc9 APN 6 142,633,097 (GRCm39) missense probably damaging 1.00
IGL02498:Abcc9 APN 6 142,617,265 (GRCm39) critical splice donor site probably null
IGL02535:Abcc9 APN 6 142,574,152 (GRCm39) missense probably benign 0.00
IGL02552:Abcc9 APN 6 142,551,645 (GRCm39) missense possibly damaging 0.94
IGL02812:Abcc9 APN 6 142,643,516 (GRCm39) missense possibly damaging 0.77
IGL02954:Abcc9 APN 6 142,592,007 (GRCm39) missense probably damaging 0.97
IGL03035:Abcc9 APN 6 142,573,319 (GRCm39) missense probably damaging 1.00
IGL03040:Abcc9 APN 6 142,598,323 (GRCm39) nonsense probably null
IGL03100:Abcc9 APN 6 142,640,270 (GRCm39) missense probably damaging 1.00
IGL03157:Abcc9 APN 6 142,551,649 (GRCm39) splice site probably benign
R0054:Abcc9 UTSW 6 142,547,500 (GRCm39) critical splice donor site probably null
R0054:Abcc9 UTSW 6 142,547,500 (GRCm39) critical splice donor site probably null
R0084:Abcc9 UTSW 6 142,604,277 (GRCm39) missense probably damaging 0.97
R0211:Abcc9 UTSW 6 142,634,710 (GRCm39) missense probably benign 0.01
R0349:Abcc9 UTSW 6 142,610,351 (GRCm39) missense probably benign 0.00
R0387:Abcc9 UTSW 6 142,585,230 (GRCm39) nonsense probably null
R0393:Abcc9 UTSW 6 142,591,604 (GRCm39) splice site probably benign
R0528:Abcc9 UTSW 6 142,638,606 (GRCm39) missense probably damaging 1.00
R0588:Abcc9 UTSW 6 142,548,787 (GRCm39) nonsense probably null
R0646:Abcc9 UTSW 6 142,627,830 (GRCm39) missense probably benign 0.05
R0691:Abcc9 UTSW 6 142,584,979 (GRCm39) missense possibly damaging 0.94
R0881:Abcc9 UTSW 6 142,592,029 (GRCm39) missense probably damaging 1.00
R1264:Abcc9 UTSW 6 142,592,103 (GRCm39) splice site probably benign
R1340:Abcc9 UTSW 6 142,628,581 (GRCm39) splice site probably benign
R1413:Abcc9 UTSW 6 142,573,245 (GRCm39) missense possibly damaging 0.65
R1413:Abcc9 UTSW 6 142,536,222 (GRCm39) missense probably damaging 1.00
R1535:Abcc9 UTSW 6 142,610,361 (GRCm39) missense probably damaging 1.00
R1595:Abcc9 UTSW 6 142,578,821 (GRCm39) missense probably benign 0.02
R1670:Abcc9 UTSW 6 142,540,448 (GRCm39) missense possibly damaging 0.89
R1769:Abcc9 UTSW 6 142,573,194 (GRCm39) splice site probably benign
R1888:Abcc9 UTSW 6 142,625,040 (GRCm39) missense probably benign
R1888:Abcc9 UTSW 6 142,625,040 (GRCm39) missense probably benign
R1918:Abcc9 UTSW 6 142,643,408 (GRCm39) missense probably damaging 1.00
R1925:Abcc9 UTSW 6 142,617,333 (GRCm39) missense probably damaging 0.98
R2019:Abcc9 UTSW 6 142,621,160 (GRCm39) missense probably damaging 1.00
R2698:Abcc9 UTSW 6 142,578,862 (GRCm39) missense possibly damaging 0.93
R2860:Abcc9 UTSW 6 142,571,736 (GRCm39) missense probably benign 0.01
R2861:Abcc9 UTSW 6 142,571,736 (GRCm39) missense probably benign 0.01
R2980:Abcc9 UTSW 6 142,633,034 (GRCm39) missense probably benign 0.00
R3115:Abcc9 UTSW 6 142,634,755 (GRCm39) missense probably benign 0.08
R3617:Abcc9 UTSW 6 142,625,015 (GRCm39) missense probably damaging 0.97
R3880:Abcc9 UTSW 6 142,584,959 (GRCm39) missense probably damaging 1.00
R4063:Abcc9 UTSW 6 142,551,645 (GRCm39) missense possibly damaging 0.94
R4065:Abcc9 UTSW 6 142,591,616 (GRCm39) missense probably damaging 1.00
R4290:Abcc9 UTSW 6 142,539,738 (GRCm39) missense probably benign 0.08
R4538:Abcc9 UTSW 6 142,560,138 (GRCm39) critical splice donor site probably null
R4615:Abcc9 UTSW 6 142,634,833 (GRCm39) missense possibly damaging 0.93
R4659:Abcc9 UTSW 6 142,618,321 (GRCm39) splice site probably null
R4774:Abcc9 UTSW 6 142,585,043 (GRCm39) missense probably damaging 1.00
R4788:Abcc9 UTSW 6 142,566,456 (GRCm39) nonsense probably null
R4832:Abcc9 UTSW 6 142,617,282 (GRCm39) missense probably damaging 1.00
R4844:Abcc9 UTSW 6 142,634,824 (GRCm39) missense probably benign 0.09
R4903:Abcc9 UTSW 6 142,546,691 (GRCm39) missense probably damaging 1.00
R4921:Abcc9 UTSW 6 142,536,162 (GRCm39) missense probably benign
R4960:Abcc9 UTSW 6 142,566,509 (GRCm39) splice site probably null
R4983:Abcc9 UTSW 6 142,627,867 (GRCm39) missense probably benign 0.44
R4986:Abcc9 UTSW 6 142,573,317 (GRCm39) missense probably benign 0.00
R5060:Abcc9 UTSW 6 142,571,836 (GRCm39) intron probably benign
R5120:Abcc9 UTSW 6 142,602,344 (GRCm39) missense probably benign 0.00
R5198:Abcc9 UTSW 6 142,571,726 (GRCm39) missense probably benign 0.00
R5301:Abcc9 UTSW 6 142,536,207 (GRCm39) missense probably benign 0.41
R5328:Abcc9 UTSW 6 142,627,785 (GRCm39) missense probably benign 0.25
R5568:Abcc9 UTSW 6 142,634,742 (GRCm39) missense possibly damaging 0.62
R5654:Abcc9 UTSW 6 142,571,371 (GRCm39) intron probably benign
R5694:Abcc9 UTSW 6 142,546,673 (GRCm39) missense probably damaging 1.00
R5734:Abcc9 UTSW 6 142,571,457 (GRCm39) intron probably benign
R5774:Abcc9 UTSW 6 142,574,285 (GRCm39) missense probably damaging 0.98
R5890:Abcc9 UTSW 6 142,550,554 (GRCm39) critical splice donor site probably null
R5946:Abcc9 UTSW 6 142,571,678 (GRCm39) missense probably damaging 1.00
R5971:Abcc9 UTSW 6 142,585,301 (GRCm39) missense probably damaging 1.00
R6078:Abcc9 UTSW 6 142,585,301 (GRCm39) missense probably damaging 1.00
R6392:Abcc9 UTSW 6 142,627,825 (GRCm39) missense probably damaging 1.00
R6400:Abcc9 UTSW 6 142,638,435 (GRCm39) makesense probably null
R6478:Abcc9 UTSW 6 142,625,034 (GRCm39) missense probably damaging 1.00
R6481:Abcc9 UTSW 6 142,550,621 (GRCm39) missense probably damaging 0.99
R6564:Abcc9 UTSW 6 142,548,834 (GRCm39) missense probably damaging 1.00
R6700:Abcc9 UTSW 6 142,633,013 (GRCm39) missense possibly damaging 0.94
R6902:Abcc9 UTSW 6 142,624,953 (GRCm39) missense probably damaging 1.00
R6946:Abcc9 UTSW 6 142,624,953 (GRCm39) missense probably damaging 1.00
R6989:Abcc9 UTSW 6 142,634,707 (GRCm39) missense probably damaging 0.97
R7052:Abcc9 UTSW 6 142,604,261 (GRCm39) missense probably benign 0.00
R7062:Abcc9 UTSW 6 142,544,872 (GRCm39) missense probably damaging 1.00
R7121:Abcc9 UTSW 6 142,634,853 (GRCm39) nonsense probably null
R7284:Abcc9 UTSW 6 142,628,643 (GRCm39) missense probably damaging 1.00
R7296:Abcc9 UTSW 6 142,617,319 (GRCm39) missense probably damaging 1.00
R7353:Abcc9 UTSW 6 142,546,731 (GRCm39) missense probably damaging 1.00
R7359:Abcc9 UTSW 6 142,617,408 (GRCm39) missense probably damaging 1.00
R7815:Abcc9 UTSW 6 142,598,331 (GRCm39) missense probably damaging 1.00
R7894:Abcc9 UTSW 6 142,539,733 (GRCm39) makesense probably null
R8095:Abcc9 UTSW 6 142,590,048 (GRCm39) missense probably benign 0.22
R8099:Abcc9 UTSW 6 142,621,257 (GRCm39) missense probably damaging 1.00
R8245:Abcc9 UTSW 6 142,539,870 (GRCm39) critical splice acceptor site probably null
R8355:Abcc9 UTSW 6 142,638,478 (GRCm39) missense probably benign 0.00
R8356:Abcc9 UTSW 6 142,536,096 (GRCm39) missense probably benign 0.06
R8365:Abcc9 UTSW 6 142,544,798 (GRCm39) missense probably benign 0.03
R8846:Abcc9 UTSW 6 142,551,610 (GRCm39) missense possibly damaging 0.56
R8886:Abcc9 UTSW 6 142,546,420 (GRCm39) intron probably benign
R8939:Abcc9 UTSW 6 142,624,977 (GRCm39) missense probably damaging 0.99
R9049:Abcc9 UTSW 6 142,628,658 (GRCm39) missense probably damaging 0.99
R9113:Abcc9 UTSW 6 142,591,656 (GRCm39) missense probably damaging 1.00
R9368:Abcc9 UTSW 6 142,640,251 (GRCm39) missense probably damaging 1.00
R9401:Abcc9 UTSW 6 142,543,836 (GRCm39) missense possibly damaging 0.90
R9407:Abcc9 UTSW 6 142,574,229 (GRCm39) missense possibly damaging 0.88
R9597:Abcc9 UTSW 6 142,578,813 (GRCm39) missense possibly damaging 0.81
R9600:Abcc9 UTSW 6 142,536,102 (GRCm39) missense possibly damaging 0.54
R9687:Abcc9 UTSW 6 142,578,889 (GRCm39) missense probably benign 0.00
R9698:Abcc9 UTSW 6 142,571,757 (GRCm39) missense probably benign
R9761:Abcc9 UTSW 6 142,544,854 (GRCm39) missense possibly damaging 0.78
U15987:Abcc9 UTSW 6 142,585,301 (GRCm39) missense probably damaging 1.00
Z1177:Abcc9 UTSW 6 142,591,664 (GRCm39) missense probably null 0.96
Z1177:Abcc9 UTSW 6 142,571,708 (GRCm39) missense probably benign 0.07
Z1177:Abcc9 UTSW 6 142,540,484 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGACACAACCATGCAATGATG -3'
(R):5'- GCCTATGTGAGTTTATGTGTTCC -3'

Sequencing Primer
(F):5'- TGCATGCATCATTCACACAC -3'
(R):5'- AAGAGGACATTCTTCCTGAGCTG -3'
Posted On 2016-12-15