Incidental Mutation 'R6902:Abcc9'
ID 538586
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 045032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6902 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142533588-142648041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142624953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 481 (S481C)
Ref Sequence ENSEMBL: ENSMUSP00000144779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000205202]
AlphaFold P70170
Predicted Effect probably damaging
Transcript: ENSMUST00000073173
AA Change: S481C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: S481C

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 damaging
Transcript: ENSMUST00000087527
AA Change: S481C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: S481C

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 damaging
Transcript: ENSMUST00000100827
AA Change: S481C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: S481C

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 possibly damaging
Transcript: ENSMUST00000111771
AA Change: S481C

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: S481C

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 damaging
Transcript: ENSMUST00000205202
AA Change: S481C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: S481C

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 0.1962 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C G 13: 119,624,680 (GRCm39) probably benign Het
Adgrl3 C A 5: 81,837,434 (GRCm39) S773R probably damaging Het
Alkbh5 G A 11: 60,429,381 (GRCm39) A45T probably benign Het
Ankrd6 C A 4: 32,806,419 (GRCm39) Q576H probably damaging Het
Ankrd6 T A 4: 32,806,420 (GRCm39) Q576L probably damaging Het
Carmil1 T C 13: 24,299,528 (GRCm39) N332S possibly damaging Het
Cc2d2b A G 19: 40,804,733 (GRCm39) Q1250R possibly damaging Het
Chd9 A C 8: 91,769,579 (GRCm39) N2539T probably damaging Het
Clec4b2 C T 6: 123,177,987 (GRCm39) Q101* probably null Het
Clstn2 A T 9: 97,351,875 (GRCm39) F517I probably damaging Het
Cog2 A G 8: 125,273,430 (GRCm39) K590E probably damaging Het
Coq9 G A 8: 95,577,180 (GRCm39) E182K probably benign Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Focad C T 4: 88,148,713 (GRCm39) R477C unknown Het
Gja10 G T 4: 32,601,905 (GRCm39) H160N probably damaging Het
Gpr132 T A 12: 112,815,830 (GRCm39) Y332F probably benign Het
Herc2 A G 7: 55,785,234 (GRCm39) T1495A probably benign Het
Hivep3 T A 4: 119,953,192 (GRCm39) S503T possibly damaging Het
Ifi44 A T 3: 151,451,536 (GRCm39) I190N possibly damaging Het
Igf1r T A 7: 67,653,911 (GRCm39) C150S probably damaging Het
Ighv1-42 T A 12: 114,901,155 (GRCm39) N4Y possibly damaging Het
Klra9 T A 6: 130,156,003 (GRCm39) I251F probably benign Het
Krt79 T C 15: 101,840,314 (GRCm39) N294S probably benign Het
Lama2 T G 10: 26,857,625 (GRCm39) T3075P probably damaging Het
Lrfn1 T G 7: 28,159,238 (GRCm39) C386G probably benign Het
Lrp2 T C 2: 69,289,847 (GRCm39) D3664G probably damaging Het
Mfsd3 T A 15: 76,587,349 (GRCm39) M344K probably damaging Het
Mier2 C A 10: 79,376,673 (GRCm39) probably benign Het
Mmp2 G A 8: 93,563,545 (GRCm39) V340M probably damaging Het
Mrgprb3 T A 7: 48,293,447 (GRCm39) I35F probably benign Het
Myo5b A T 18: 74,809,756 (GRCm39) I613F possibly damaging Het
Nicol1 G A 5: 34,140,923 (GRCm39) probably benign Het
Or14c43 T A 7: 86,114,995 (GRCm39) C125* probably null Het
Or51f1e A T 7: 102,747,562 (GRCm39) I205F probably benign Het
Or7d11 A T 9: 19,966,670 (GRCm39) L30M possibly damaging Het
Or8g30 C A 9: 39,230,315 (GRCm39) L198F probably damaging Het
Pan2 A G 10: 128,151,506 (GRCm39) T867A probably benign Het
Papolb T A 5: 142,513,906 (GRCm39) H579L probably benign Het
Pcf11 C A 7: 92,307,507 (GRCm39) G887V probably damaging Het
Pdzd8 A G 19: 59,289,829 (GRCm39) S524P possibly damaging Het
Pole3 T C 4: 62,442,300 (GRCm39) probably benign Het
Prdm14 C T 1: 13,192,645 (GRCm39) V365I probably benign Het
Shank1 T A 7: 44,006,239 (GRCm39) F1985L probably benign Het
Slc13a1 T C 6: 24,097,665 (GRCm39) I421V possibly damaging Het
Slc2a6 C T 2: 26,913,172 (GRCm39) V374M probably benign Het
Spata1 A T 3: 146,181,078 (GRCm39) N293K possibly damaging Het
Stk40 T A 4: 126,031,605 (GRCm39) D366E probably benign Het
Tas2r117 T C 6: 132,780,288 (GRCm39) L142S probably damaging Het
Tomm70a T C 16: 56,958,444 (GRCm39) S266P probably damaging Het
Trgv1 T C 13: 19,524,190 (GRCm39) L2P probably benign Het
Vipr2 A T 12: 116,102,819 (GRCm39) T310S possibly damaging Het
Vti1a A T 19: 55,487,673 (GRCm39) probably null Het
Zfp961 A G 8: 72,722,522 (GRCm39) K345R 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
R5802:Abcc9 UTSW 6 142,602,402 (GRCm39) critical splice acceptor site probably null
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
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'- AACTTTACTATGTAGGGTGATCAGC -3'
(R):5'- TGTCCATTCTCAGCGACAG -3'

Sequencing Primer
(F):5'- TTGGGCCAGCCTGATCTACAAAG -3'
(R):5'- ACAGCATTTGTCCCCTTCG -3'
Posted On 2018-11-06