Incidental Mutation 'R0391:Abcc8'
ID 31690
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 038597-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # R0391 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45753952-45829441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 45771597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 838 (G838A)
Ref Sequence ENSEMBL: ENSMUSP00000033123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123]
AlphaFold B2RUS7
Predicted Effect probably damaging
Transcript: ENSMUST00000033123
AA Change: G838A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: G838A

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: ENSMUST00000210110
Predicted Effect unknown
Transcript: ENSMUST00000210655
AA Change: G159A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211767
Meta Mutation Damage Score 0.8831 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,594,970 (GRCm39) probably benign Het
Abcc2 G A 19: 43,810,044 (GRCm39) probably benign Het
Akr1c21 G A 13: 4,631,199 (GRCm39) A245T probably damaging Het
Anapc15-ps T C 10: 95,509,139 (GRCm39) E47G probably damaging Het
Apoa1 A G 9: 46,141,140 (GRCm39) T79A probably benign Het
Atp6v1b1 A G 6: 83,733,903 (GRCm39) H378R possibly damaging Het
C4b A G 17: 34,954,588 (GRCm39) probably benign Het
Catsperd A T 17: 56,969,821 (GRCm39) E638D probably benign Het
Cckar C T 5: 53,863,595 (GRCm39) probably null Het
Cfap100 C T 6: 90,382,321 (GRCm39) probably benign Het
Chd1 G T 17: 15,970,156 (GRCm39) G970C probably damaging Het
Col14a1 A G 15: 55,309,655 (GRCm39) probably benign Het
Col17a1 C T 19: 47,652,263 (GRCm39) V698M probably damaging Het
Cpeb1 T C 7: 81,011,473 (GRCm39) D156G possibly damaging Het
Cryl1 A G 14: 57,541,232 (GRCm39) Y151H possibly damaging Het
Csmd3 C A 15: 47,520,969 (GRCm39) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm39) A73T probably damaging Het
Cyp2c37 T C 19: 39,982,950 (GRCm39) S180P probably damaging Het
Cyp2c54 T C 19: 40,060,613 (GRCm39) T123A possibly damaging Het
Dennd6b T C 15: 89,071,417 (GRCm39) D304G probably damaging Het
Dnmt3l T C 10: 77,887,750 (GRCm39) probably benign Het
Eci1 G A 17: 24,652,234 (GRCm39) probably null Het
Efhc1 A G 1: 21,030,412 (GRCm39) Y115C probably damaging Het
Ern1 T A 11: 106,298,004 (GRCm39) K706* probably null Het
Ghrl T C 6: 113,696,299 (GRCm39) E31G probably damaging Het
Gpr108 A C 17: 57,550,101 (GRCm39) V179G probably benign Het
Henmt1 A G 3: 108,865,851 (GRCm39) probably benign Het
Ift172 A G 5: 31,444,011 (GRCm39) V69A probably damaging Het
Il17ra T C 6: 120,453,940 (GRCm39) probably benign Het
Il17rb T C 14: 29,726,304 (GRCm39) N95D probably benign Het
Il17rb G T 14: 29,728,112 (GRCm39) probably null Het
Iqub G A 6: 24,446,154 (GRCm39) L757F probably benign Het
Itpr1 T C 6: 108,355,128 (GRCm39) V473A probably benign Het
Itpr2 T G 6: 146,131,271 (GRCm39) N1978H probably damaging Het
Klk1b26 T A 7: 43,662,151 (GRCm39) F3Y probably damaging Het
Lars1 A G 18: 42,384,428 (GRCm39) V50A probably benign Het
Lax1 G T 1: 133,607,804 (GRCm39) H312Q probably benign Het
Lctl T C 9: 64,029,596 (GRCm39) probably benign Het
Lrp2 T A 2: 69,287,202 (GRCm39) D3745V probably damaging Het
Lrp2 G A 2: 69,290,681 (GRCm39) probably benign Het
Lvrn A T 18: 46,983,533 (GRCm39) H92L probably benign Het
Marchf1 A G 8: 66,871,625 (GRCm39) T385A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mbd5 T C 2: 49,162,428 (GRCm39) V970A possibly damaging Het
Mccc1 A G 3: 36,017,719 (GRCm39) probably benign Het
Mpp4 A T 1: 59,182,988 (GRCm39) probably benign Het
Mrnip G A 11: 50,090,747 (GRCm39) A304T probably damaging Het
Muc5b T C 7: 141,418,819 (GRCm39) S3922P possibly damaging Het
Myh3 T A 11: 66,987,333 (GRCm39) probably benign Het
Nbea A T 3: 55,944,698 (GRCm39) H555Q probably damaging Het
Niban3 T A 8: 72,055,143 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,070,901 (GRCm39) probably benign Het
Nmur1 A T 1: 86,315,400 (GRCm39) V178E probably damaging Het
Nod2 T G 8: 89,390,406 (GRCm39) S238A probably benign Het
Ogfod1 A T 8: 94,789,651 (GRCm39) T451S probably damaging Het
Or1e17 T C 11: 73,831,935 (GRCm39) F288L probably damaging Het
Or2d36 T A 7: 106,747,394 (GRCm39) Y290* probably null Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8b8 G A 9: 37,809,138 (GRCm39) G146D probably benign Het
Pcdh20 T C 14: 88,706,104 (GRCm39) I399V probably benign Het
Pdlim1 G T 19: 40,232,017 (GRCm39) H120Q probably damaging Het
Plg T C 17: 12,637,968 (GRCm39) V798A probably damaging Het
Polr2c A G 8: 95,584,403 (GRCm39) I39V possibly damaging Het
Ppfia2 C A 10: 106,666,575 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,696 (GRCm39) I406N probably benign Het
Psg28 A T 7: 18,160,098 (GRCm39) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm39) I419T probably damaging Het
Rnf43 A G 11: 87,622,108 (GRCm39) Q403R possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc28a3 A G 13: 58,717,229 (GRCm39) probably benign Het
Smad2 A T 18: 76,422,108 (GRCm39) probably null Het
Smad4 G A 18: 73,791,720 (GRCm39) P274S probably benign Het
Smchd1 A T 17: 71,710,149 (GRCm39) V906D probably damaging Het
Soat2 C A 15: 102,067,188 (GRCm39) R320S possibly damaging Het
Spata33 C T 8: 123,948,626 (GRCm39) A57V probably damaging Het
Stab1 A G 14: 30,865,375 (GRCm39) L1814P probably benign Het
Stab2 T C 10: 86,783,008 (GRCm39) K680R probably benign Het
Stil A G 4: 114,898,369 (GRCm39) probably null Het
Sympk T A 7: 18,780,774 (GRCm39) L759H probably benign Het
Tet1 A T 10: 62,650,325 (GRCm39) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm39) N117K probably benign Het
Tle3 A G 9: 61,323,943 (GRCm39) Y766C probably damaging Het
Trpt1 C A 19: 6,975,298 (GRCm39) probably null Het
Tshz1 A G 18: 84,034,174 (GRCm39) F78S possibly damaging Het
Ttc1 T C 11: 43,629,635 (GRCm39) D177G probably damaging Het
Ttc13 T A 8: 125,401,140 (GRCm39) Y741F probably damaging Het
Ulk3 C T 9: 57,502,115 (GRCm39) S462L probably benign Het
Utrn C T 10: 12,401,077 (GRCm39) probably benign Het
V1rd19 A C 7: 23,703,010 (GRCm39) T159P probably damaging Het
Vars1 T C 17: 35,230,462 (GRCm39) V515A possibly damaging Het
Vmn1r85 A G 7: 12,818,515 (GRCm39) Y210H probably benign Het
Vmn2r89 A G 14: 51,693,435 (GRCm39) T262A probably damaging Het
Vps53 G A 11: 76,012,405 (GRCm39) T209I probably benign Het
Wdfy2 T C 14: 63,162,582 (GRCm39) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm39) S694Y probably damaging Het
Zbtb8b T A 4: 129,326,463 (GRCm39) D201V probably damaging Het
Zmym5 A C 14: 57,041,908 (GRCm39) N123K possibly 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
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
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'- TGGGAATCCCAGAGTGGGTTATCAG -3'
(R):5'- TCCTTCATCCAGGAGAGAACAGTTCAG -3'

Sequencing Primer
(F):5'- tgatgatggtggtgatgatgg -3'
(R):5'- CAGTTTGGAGGAGCATTTACAC -3'
Posted On 2013-04-24