Incidental Mutation 'R7947:Abcc8'
ID 649405
Institutional Source Beutler Lab
Gene Symbol Abcc8
Ensembl Gene ENSMUSG00000040136
Gene Name ATP-binding cassette, sub-family C member 8
Synonyms SUR1, Sur, D930031B21Rik
MMRRC Submission 045992-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # R7947 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45753952-45829441 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 45754886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123] [ENSMUST00000180081] [ENSMUST00000209291]
AlphaFold B2RUS7
Predicted Effect probably null
Transcript: ENSMUST00000033123
SMART Domains Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
transmembrane domain 105 124 N/A INTRINSIC
transmembrane domain 131 148 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:ABC_membrane 299 590 1.3e-39 PFAM
AAA 705 920 4.46e-14 SMART
low complexity region 972 994 N/A INTRINSIC
Pfam:ABC_membrane 1019 1301 1.3e-49 PFAM
AAA 1377 1570 4.33e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180081
SMART Domains Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:IRK 36 360 4.9e-138 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209291
Predicted Effect probably null
Transcript: ENSMUST00000209432
Predicted Effect probably null
Transcript: ENSMUST00000210655
Predicted Effect probably benign
Transcript: ENSMUST00000210770
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,938 (GRCm39) T51A probably benign Het
Accs A T 2: 93,674,602 (GRCm39) M123K probably damaging Het
Ace G A 11: 105,863,880 (GRCm39) G443S possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arhgap25 T C 6: 87,440,069 (GRCm39) D526G probably benign Het
Arhgef18 T C 8: 3,482,775 (GRCm39) L160P probably damaging Het
Arnt T G 3: 95,381,837 (GRCm39) probably null Het
Art3 A G 5: 92,540,359 (GRCm39) N34S possibly damaging Het
Avl9 A T 6: 56,700,526 (GRCm39) E53D possibly damaging Het
AW209491 A T 13: 14,811,447 (GRCm39) E100V probably benign Het
Axin2 T C 11: 108,814,529 (GRCm39) I139T probably damaging Het
Birc7 G T 2: 180,575,103 (GRCm39) V280L probably damaging Het
Bmal1 T C 7: 112,886,353 (GRCm39) Y137H probably damaging Het
C1ra A G 6: 124,494,338 (GRCm39) N262D probably benign Het
Cacna1g A G 11: 94,348,001 (GRCm39) F696L probably benign Het
Casp14 T A 10: 78,550,079 (GRCm39) probably null Het
Ciao2a A G 9: 66,045,684 (GRCm39) I151V probably benign Het
Crlf1 T C 8: 70,951,862 (GRCm39) Y176H probably damaging Het
Dnajb4 A T 3: 151,892,468 (GRCm39) S122T probably benign Het
Dthd1 G A 5: 62,971,653 (GRCm39) D159N possibly damaging Het
Erich6 A T 3: 58,528,699 (GRCm39) I517N possibly damaging Het
Fam118b T A 9: 35,129,239 (GRCm39) H343L probably benign Het
Fat2 T A 11: 55,178,560 (GRCm39) D1500V probably damaging Het
Fcgbp T C 7: 27,803,595 (GRCm39) probably null Het
Fgfrl1 A G 5: 108,853,142 (GRCm39) D255G probably damaging Het
Gm9611 G A 14: 42,118,087 (GRCm39) Q82* probably null Het
Ifit3 G T 19: 34,565,359 (GRCm39) E302* probably null Het
Igkv3-9 G A 6: 70,565,737 (GRCm39) C112Y probably damaging Het
Ints4 A G 7: 97,148,792 (GRCm39) T233A probably benign Het
Khnyn A T 14: 56,125,059 (GRCm39) S438C probably damaging Het
Kifc1 T C 17: 34,102,849 (GRCm39) R192G probably benign Het
Kntc1 T C 5: 123,919,951 (GRCm39) S98P unknown Het
Krt1c A T 15: 101,724,769 (GRCm39) D280E probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Macf1 T C 4: 123,295,200 (GRCm39) I5344V probably damaging Het
Mcf2l A T 8: 13,053,529 (GRCm39) probably null Het
Mms22l A C 4: 24,505,373 (GRCm39) H211P probably damaging Het
Nipsnap1 A G 11: 4,839,145 (GRCm39) R163G possibly damaging Het
Nusap1 A G 2: 119,477,616 (GRCm39) N375S possibly damaging Het
Or51t4 A G 7: 102,598,278 (GRCm39) Y202C probably damaging Het
Or52e19b A T 7: 103,032,735 (GRCm39) V158D possibly damaging Het
Or8g17 A G 9: 38,930,747 (GRCm39) L30P probably damaging Het
Phf14 G A 6: 11,933,306 (GRCm39) G56D unknown Het
Phykpl G A 11: 51,477,408 (GRCm39) V67M probably damaging Het
Pigk A G 3: 152,453,404 (GRCm39) D374G probably benign Het
Pirb A G 7: 3,722,857 (GRCm39) V45A probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Rb1cc1 T C 1: 6,318,786 (GRCm39) V735A probably damaging Het
Rcor2 A G 19: 7,251,225 (GRCm39) T333A possibly damaging Het
Ret A G 6: 118,151,305 (GRCm39) V593A probably benign Het
Scgb1b10 A T 7: 31,800,570 (GRCm39) D53V probably damaging Het
Sec61a2 G A 2: 5,881,794 (GRCm39) A212V probably damaging Het
Sgpl1 A T 10: 60,942,121 (GRCm39) F245I probably damaging Het
Sh2d4b A C 14: 40,542,723 (GRCm39) V351G probably damaging Het
Shld2 C T 14: 33,990,436 (GRCm39) V157I probably benign Het
Slc22a1 T A 17: 12,871,310 (GRCm39) M484L probably benign Het
Slit1 C G 19: 41,599,247 (GRCm39) G1066R probably damaging Het
Slit1 A T 19: 41,599,248 (GRCm39) D1065E probably benign Het
Spg11 G A 2: 121,922,803 (GRCm39) A882V probably damaging Het
Stab2 A C 10: 86,681,897 (GRCm39) F2501L probably benign Het
Stim2 A T 5: 54,275,671 (GRCm39) K607N probably damaging Het
Syde1 C T 10: 78,425,916 (GRCm39) V84M probably damaging Het
Tepsin A T 11: 119,985,061 (GRCm39) N202K probably benign Het
Tmem207 T A 16: 26,335,495 (GRCm39) I81F possibly damaging Het
Tnc C A 4: 63,935,580 (GRCm39) G452V probably damaging Het
Tshz1 G T 18: 84,033,782 (GRCm39) Q209K probably damaging Het
Ttn A T 2: 76,773,696 (GRCm39) N2308K unknown Het
Zfp266 A G 9: 20,410,548 (GRCm39) I543T probably benign Het
Zfp777 G T 6: 48,001,645 (GRCm39) P815Q probably damaging Het
Zhx3 A G 2: 160,623,015 (GRCm39) I384T probably damaging Het
Other mutations in Abcc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Abcc8 APN 7 45,754,088 (GRCm39) missense probably benign
IGL01457:Abcc8 APN 7 45,784,917 (GRCm39) missense possibly damaging 0.51
IGL01645:Abcc8 APN 7 45,764,477 (GRCm39) missense possibly damaging 0.93
IGL01683:Abcc8 APN 7 45,801,091 (GRCm39) missense possibly damaging 0.78
IGL01826:Abcc8 APN 7 45,774,273 (GRCm39) missense probably benign 0.01
IGL01912:Abcc8 APN 7 45,769,934 (GRCm39) missense probably damaging 1.00
IGL02218:Abcc8 APN 7 45,769,860 (GRCm39) missense probably benign 0.00
IGL02326:Abcc8 APN 7 45,772,281 (GRCm39) critical splice donor site probably null
IGL02403:Abcc8 APN 7 45,755,227 (GRCm39) splice site probably null
IGL02411:Abcc8 APN 7 45,756,431 (GRCm39) missense probably damaging 1.00
IGL02653:Abcc8 APN 7 45,765,191 (GRCm39) splice site probably benign
IGL02706:Abcc8 APN 7 45,816,345 (GRCm39) missense probably benign 0.08
R0295:Abcc8 UTSW 7 45,767,478 (GRCm39) missense probably benign
R0381:Abcc8 UTSW 7 45,757,858 (GRCm39) missense possibly damaging 0.46
R0391:Abcc8 UTSW 7 45,771,597 (GRCm39) missense probably damaging 0.98
R0408:Abcc8 UTSW 7 45,756,457 (GRCm39) missense probably damaging 0.99
R0496:Abcc8 UTSW 7 45,758,244 (GRCm39) missense probably damaging 1.00
R1126:Abcc8 UTSW 7 45,759,062 (GRCm39) missense probably damaging 0.99
R1323:Abcc8 UTSW 7 45,766,786 (GRCm39) missense probably benign 0.07
R1323:Abcc8 UTSW 7 45,766,786 (GRCm39) missense probably benign 0.07
R1352:Abcc8 UTSW 7 45,784,892 (GRCm39) splice site probably benign
R1368:Abcc8 UTSW 7 45,772,284 (GRCm39) missense probably damaging 1.00
R1437:Abcc8 UTSW 7 45,829,237 (GRCm39) missense probably damaging 1.00
R1463:Abcc8 UTSW 7 45,803,936 (GRCm39) missense probably benign 0.12
R1689:Abcc8 UTSW 7 45,769,827 (GRCm39) missense probably benign 0.16
R1717:Abcc8 UTSW 7 45,765,239 (GRCm39) missense possibly damaging 0.91
R1804:Abcc8 UTSW 7 45,769,903 (GRCm39) missense probably benign 0.02
R1848:Abcc8 UTSW 7 45,816,326 (GRCm39) missense probably benign
R1870:Abcc8 UTSW 7 45,773,339 (GRCm39) missense probably benign 0.05
R1938:Abcc8 UTSW 7 45,824,795 (GRCm39) missense possibly damaging 0.49
R1993:Abcc8 UTSW 7 45,766,847 (GRCm39) splice site probably null
R1994:Abcc8 UTSW 7 45,806,543 (GRCm39) missense probably benign 0.02
R2511:Abcc8 UTSW 7 45,800,204 (GRCm39) missense probably damaging 1.00
R3840:Abcc8 UTSW 7 45,757,524 (GRCm39) missense possibly damaging 0.67
R3879:Abcc8 UTSW 7 45,754,051 (GRCm39) missense possibly damaging 0.90
R4444:Abcc8 UTSW 7 45,785,618 (GRCm39) missense probably benign 0.09
R4463:Abcc8 UTSW 7 45,756,005 (GRCm39) splice site probably null
R4761:Abcc8 UTSW 7 45,762,499 (GRCm39) missense probably damaging 1.00
R4816:Abcc8 UTSW 7 45,754,131 (GRCm39) missense probably benign 0.01
R4841:Abcc8 UTSW 7 45,800,252 (GRCm39) missense probably damaging 1.00
R4842:Abcc8 UTSW 7 45,800,252 (GRCm39) missense probably damaging 1.00
R4870:Abcc8 UTSW 7 45,756,683 (GRCm39) nonsense probably null
R4969:Abcc8 UTSW 7 45,754,943 (GRCm39) missense probably benign 0.02
R4975:Abcc8 UTSW 7 45,800,291 (GRCm39) missense probably damaging 0.98
R5258:Abcc8 UTSW 7 45,806,572 (GRCm39) missense probably benign 0.17
R5258:Abcc8 UTSW 7 45,757,811 (GRCm39) missense probably benign
R5502:Abcc8 UTSW 7 45,758,262 (GRCm39) missense probably benign 0.00
R5518:Abcc8 UTSW 7 45,769,873 (GRCm39) missense probably benign
R5660:Abcc8 UTSW 7 45,757,828 (GRCm39) missense probably benign 0.15
R5902:Abcc8 UTSW 7 45,764,463 (GRCm39) missense probably benign
R5907:Abcc8 UTSW 7 45,773,330 (GRCm39) missense probably benign 0.01
R6023:Abcc8 UTSW 7 45,757,843 (GRCm39) missense possibly damaging 0.62
R6026:Abcc8 UTSW 7 45,816,424 (GRCm39) missense probably benign
R6078:Abcc8 UTSW 7 45,755,268 (GRCm39) missense probably benign 0.01
R6079:Abcc8 UTSW 7 45,755,268 (GRCm39) missense probably benign 0.01
R6103:Abcc8 UTSW 7 45,768,445 (GRCm39) missense possibly damaging 0.50
R6221:Abcc8 UTSW 7 45,824,874 (GRCm39) missense probably benign 0.01
R6511:Abcc8 UTSW 7 45,800,285 (GRCm39) missense possibly damaging 0.82
R7046:Abcc8 UTSW 7 45,772,364 (GRCm39) missense probably damaging 1.00
R7230:Abcc8 UTSW 7 45,766,812 (GRCm39) missense probably benign
R7287:Abcc8 UTSW 7 45,762,534 (GRCm39) missense probably damaging 1.00
R7292:Abcc8 UTSW 7 45,784,950 (GRCm39) missense probably benign
R7299:Abcc8 UTSW 7 45,754,922 (GRCm39) missense possibly damaging 0.62
R7411:Abcc8 UTSW 7 45,815,341 (GRCm39) critical splice donor site probably null
R7693:Abcc8 UTSW 7 45,827,968 (GRCm39) missense probably damaging 0.99
R7704:Abcc8 UTSW 7 45,756,068 (GRCm39) missense probably damaging 0.98
R7911:Abcc8 UTSW 7 45,803,860 (GRCm39) missense probably damaging 1.00
R8089:Abcc8 UTSW 7 45,757,780 (GRCm39) missense probably benign 0.00
R8120:Abcc8 UTSW 7 45,786,108 (GRCm39) missense probably benign 0.01
R8394:Abcc8 UTSW 7 45,803,977 (GRCm39) missense probably benign 0.03
R8731:Abcc8 UTSW 7 45,803,986 (GRCm39) missense probably damaging 0.98
R8848:Abcc8 UTSW 7 45,766,769 (GRCm39) missense possibly damaging 0.69
R8938:Abcc8 UTSW 7 45,816,418 (GRCm39) missense
R9246:Abcc8 UTSW 7 45,774,289 (GRCm39) missense probably benign 0.00
R9293:Abcc8 UTSW 7 45,756,092 (GRCm39) missense probably benign 0.00
R9476:Abcc8 UTSW 7 45,819,270 (GRCm39) missense possibly damaging 0.92
R9516:Abcc8 UTSW 7 45,787,429 (GRCm39) missense probably benign 0.30
R9541:Abcc8 UTSW 7 45,801,079 (GRCm39) missense probably benign 0.04
R9701:Abcc8 UTSW 7 45,786,054 (GRCm39) missense probably benign
R9802:Abcc8 UTSW 7 45,786,054 (GRCm39) missense probably benign
U15987:Abcc8 UTSW 7 45,755,268 (GRCm39) missense probably benign 0.01
Z1088:Abcc8 UTSW 7 45,787,489 (GRCm39) missense probably benign
Z1176:Abcc8 UTSW 7 45,756,389 (GRCm39) missense possibly damaging 0.76
Z1177:Abcc8 UTSW 7 45,803,933 (GRCm39) missense probably benign 0.00
Z1177:Abcc8 UTSW 7 45,772,309 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGGTGTATCGTGGAATCCAG -3'
(R):5'- TCAATCCTCTGGGAGTAGAGCC -3'

Sequencing Primer
(F):5'- TGTATCGTGGAATCCAGAGAATAG -3'
(R):5'- CCTCTGGGAGTAGAGCCAGAGAG -3'
Posted On 2020-09-15