Incidental Mutation 'R8355:Abcc9'
ID 660271
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 067869-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8355 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142533588-142648041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142638478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 145 (H145Q)
Ref Sequence ENSEMBL: ENSMUSP00000145489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000204870] [ENSMUST00000205202]
AlphaFold P70170
Predicted Effect probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000204870
AA Change: H145Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145489
Gene: ENSMUSG00000030249
AA Change: H145Q

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
Predicted Effect probably benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
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
Acsf2 A T 11: 94,461,450 (GRCm39) M293K probably benign Het
Ak9 G A 10: 41,275,700 (GRCm39) R1112Q Het
Ano8 T C 8: 71,933,210 (GRCm39) probably benign Het
Ap3b2 A T 7: 81,122,851 (GRCm39) V462E probably damaging Het
Arid1a T C 4: 133,448,174 (GRCm39) Q498R unknown Het
AW011738 C A 4: 156,287,837 (GRCm39) probably benign Het
Bhlhe41 T A 6: 145,811,028 (GRCm39) probably null Het
Bnc1 A C 7: 81,618,624 (GRCm39) S814A probably damaging Het
Bnip5 T A 17: 29,122,249 (GRCm39) Q414L probably damaging Het
Cage1 A T 13: 38,203,225 (GRCm39) L613H probably damaging Het
Camk1g T C 1: 193,033,355 (GRCm39) I231V probably damaging Het
Catspere2 T C 1: 177,845,276 (GRCm39) Y99H possibly damaging Het
Ccdc50 A G 16: 27,236,101 (GRCm39) Y145C probably benign Het
Cdcp1 A G 9: 123,002,888 (GRCm39) S728P probably benign Het
Chrm3 A T 13: 9,928,646 (GRCm39) M130K probably damaging Het
Csf1r T C 18: 61,261,222 (GRCm39) F766S probably damaging Het
Dact3 A G 7: 16,617,125 (GRCm39) D108G probably damaging Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A C 17: 30,914,152 (GRCm39) L1099F possibly damaging Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gk5 T C 9: 96,032,839 (GRCm39) V274A possibly damaging Het
Gnpat T C 8: 125,597,579 (GRCm39) F47S probably benign Het
Gsap G T 5: 21,456,017 (GRCm39) G374* probably null Het
Gtf2h2 A T 13: 100,605,503 (GRCm39) F368Y possibly damaging Het
Gvin1 A T 7: 105,757,312 (GRCm39) W2386R possibly damaging Het
Ighe A T 12: 113,235,167 (GRCm39) L331* probably null Het
Iqank1 C A 15: 75,906,073 (GRCm39) Q87K probably benign Het
Itch T A 2: 155,052,502 (GRCm39) probably null Het
Lars2 G A 9: 123,283,780 (GRCm39) A683T probably damaging Het
Lin7a C T 10: 107,218,497 (GRCm39) R14C probably damaging Het
Lrp2 C T 2: 69,346,828 (GRCm39) S806N probably damaging Het
Lrrc8e T A 8: 4,284,018 (GRCm39) M81K probably benign Het
Mcm3ap C A 10: 76,329,335 (GRCm39) T1172K probably benign Het
Mrm3 A T 11: 76,141,164 (GRCm39) M391L possibly damaging Het
Myo9a T C 9: 59,817,130 (GRCm39) S2278P probably damaging Het
Ncln T C 10: 81,323,703 (GRCm39) K511E probably damaging Het
Or2y17 G T 11: 49,231,592 (GRCm39) V78L possibly damaging Het
Or8b101 A G 9: 38,020,258 (GRCm39) K87R probably benign Het
Pcdhb10 G T 18: 37,545,134 (GRCm39) G70V probably damaging Het
Phf24 A G 4: 42,933,735 (GRCm39) E39G probably benign Het
Plat C A 8: 23,261,758 (GRCm39) S52* probably null Het
Pramel52-ps T C 5: 94,531,772 (GRCm39) C219R probably damaging Het
Ptpru C A 4: 131,535,811 (GRCm39) G389C probably damaging Het
Rnpep T C 1: 135,195,005 (GRCm39) D407G probably damaging Het
Rttn G A 18: 89,047,016 (GRCm39) V893I probably benign Het
Slit1 A G 19: 41,634,473 (GRCm39) L428P probably damaging Het
Tet1 T A 10: 62,652,229 (GRCm39) L1596F possibly damaging Het
Thsd7b T C 1: 129,523,616 (GRCm39) C140R probably damaging Het
Usp17le A T 7: 104,418,752 (GRCm39) M130K possibly damaging Het
Vmn2r92 T G 17: 18,405,061 (GRCm39) I735S probably damaging Het
Zbtb42 A T 12: 112,645,969 (GRCm39) Y48F probably damaging Het
Zbtb43 C T 2: 33,345,120 (GRCm39) G35D possibly damaging Het
Zfp1005 T A 2: 150,109,876 (GRCm39) C189S unknown 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
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
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'- TGGTGTCCCTAAGAACAGCAC -3'
(R):5'- GGCACCAACACTGTTTTGC -3'

Sequencing Primer
(F):5'- CACACCACAGAGGGATTTATTG -3'
(R):5'- TGCTCTCTCTAGGCATCGGG -3'
Posted On 2021-01-18