Incidental Mutation 'R4463:Abcc8'
ID 330224
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 041721-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # R4463 (G1)
Quality Score 184
Status Validated
Chromosome 7
Chromosomal Location 45753952-45829441 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 45756005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123]
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: ENSMUST00000209432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210637
Predicted Effect probably null
Transcript: ENSMUST00000210655
Predicted Effect probably null
Transcript: ENSMUST00000210770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211039
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G 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
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
R7947:Abcc8 UTSW 7 45,754,886 (GRCm39) critical splice donor site probably null
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'- GGAGGACTTGAAGTCTGTCTCC -3'
(R):5'- ACCAGGTTCTCCATCACTGC -3'

Sequencing Primer
(F):5'- ACTTGAAGTCTGTCTCCTAGGGAC -3'
(R):5'- CCATCACTGCTTTGGCGATGAAG -3'
Posted On 2015-07-21