Incidental Mutation 'IGL02954:Abcc9'
ID 365039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc9
Ensembl Gene ENSMUSG00000030249
Gene Name ATP-binding cassette, sub-family C member 9
Synonyms SUR2A, Sur2, SUR2B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02954
Quality Score
Status
Chromosome 6
Chromosomal Location 142533588-142648041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142592007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 774 (N774S)
Ref Sequence ENSEMBL: ENSMUSP00000098390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000205202]
AlphaFold P70170
Predicted Effect probably damaging
Transcript: ENSMUST00000073173
AA Change: N739S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: N739S

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: N774S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: N774S

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: N774S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: N774S

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
AA Change: N761S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: N761S

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: N739S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: N739S

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
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,782,341 (GRCm39) R908L probably benign Het
Alpk2 C T 18: 65,439,207 (GRCm39) V729I probably benign Het
Atf3 T C 1: 190,903,852 (GRCm39) N125D probably damaging Het
Bcat1 C T 6: 144,964,945 (GRCm39) G215D probably damaging Het
Bptf G T 11: 106,945,575 (GRCm39) Q2555K possibly damaging Het
Cthrc1 A G 15: 38,940,389 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,379,520 (GRCm39) M443T probably damaging Het
D6Wsu163e C T 6: 126,951,441 (GRCm39) probably benign Het
Dgkg T A 16: 22,441,003 (GRCm39) E3D probably benign Het
Dnah8 G T 17: 30,923,809 (GRCm39) R1259L probably benign Het
Dnah9 A G 11: 66,009,793 (GRCm39) L698P probably damaging Het
Ebag9 A C 15: 44,493,601 (GRCm39) H141P probably benign Het
Emilin2 T C 17: 71,563,526 (GRCm39) R840G probably benign Het
Faap100 A T 11: 120,262,957 (GRCm39) H800Q probably damaging Het
Fh1 A T 1: 175,437,301 (GRCm39) I266N probably damaging Het
Fkbp15 A G 4: 62,239,302 (GRCm39) probably benign Het
Gm17334 A G 11: 53,663,654 (GRCm39) probably benign Het
Gm5773 G T 3: 93,680,358 (GRCm39) W10L probably benign Het
Gng13 T C 17: 25,937,726 (GRCm39) Y18H probably damaging Het
Hivep3 T C 4: 119,990,838 (GRCm39) S2113P probably damaging Het
Ift81 A T 5: 122,748,248 (GRCm39) probably benign Het
Irak3 A C 10: 120,012,147 (GRCm39) L206V probably damaging Het
Kcng4 C T 8: 120,359,792 (GRCm39) A195T probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Nars2 T G 7: 96,689,100 (GRCm39) probably null Het
Nol8 T C 13: 49,814,648 (GRCm39) V234A probably benign Het
Or12j4 A T 7: 140,046,353 (GRCm39) K80* probably null Het
Or1o4 T A 17: 37,591,195 (GRCm39) N39Y probably damaging Het
Patz1 A G 11: 3,241,761 (GRCm39) Y383C probably damaging Het
Pdcd5 T C 7: 35,343,089 (GRCm39) Y152C probably damaging Het
Phkg1 A G 5: 129,894,910 (GRCm39) W214R probably damaging Het
Plxna1 A G 6: 89,301,649 (GRCm39) L1459P probably damaging Het
Pspc1 G A 14: 57,009,217 (GRCm39) P206S probably benign Het
St7 A T 6: 17,848,030 (GRCm39) N198I probably damaging Het
Supt3 A G 17: 45,349,015 (GRCm39) D249G probably damaging Het
Taf1c T C 8: 120,327,225 (GRCm39) Y418C probably damaging Het
Tdrd6 A G 17: 43,938,153 (GRCm39) V965A possibly damaging Het
Ugt2b35 A G 5: 87,159,180 (GRCm39) N458S probably benign Het
Vmn1r8 A G 6: 57,013,315 (GRCm39) Y122C probably benign 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
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
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
Posted On 2015-12-18