Incidental Mutation 'R5660:Abcc8'
ID 444033
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 043173-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # R5660 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45753952-45829441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45757828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1307 (N1307S)
Ref Sequence ENSEMBL: ENSMUSP00000033123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123]
AlphaFold B2RUS7
Predicted Effect probably benign
Transcript: ENSMUST00000033123
AA Change: N1307S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: N1307S

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 unknown
Transcript: ENSMUST00000210655
AA Change: N628S
Predicted Effect probably benign
Transcript: ENSMUST00000210770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211039
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,274,539 (GRCm39) D41E possibly damaging Het
Adamts13 T C 2: 26,886,761 (GRCm39) V966A probably benign Het
Adamts2 A T 11: 50,667,472 (GRCm39) D470V probably damaging Het
Adar T C 3: 89,642,901 (GRCm39) F261L probably damaging Het
Akap3 C T 6: 126,842,254 (GRCm39) A291V probably damaging Het
Akr1c6 G A 13: 4,499,053 (GRCm39) V214I probably benign Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Arhgap11a T A 2: 113,672,255 (GRCm39) I238F possibly damaging Het
Atg2b A T 12: 105,615,383 (GRCm39) Y1024* probably null Het
Cad T A 5: 31,234,191 (GRCm39) D1956E probably damaging Het
Cbs A T 17: 31,843,220 (GRCm39) I237N probably damaging Het
Ccdc81 T C 7: 89,542,337 (GRCm39) T180A probably benign Het
Cftr T A 6: 18,313,686 (GRCm39) N1303K probably benign Het
Col6a4 A G 9: 105,873,315 (GRCm39) S2227P probably benign Het
Crebbp A T 16: 3,972,722 (GRCm39) M324K possibly damaging Het
Dst A G 1: 34,321,574 (GRCm39) K4363R probably damaging Het
Eif2b4 A T 5: 31,348,500 (GRCm39) Y238N probably benign Het
Fam83c G A 2: 155,671,509 (GRCm39) A642V probably benign Het
Fat2 T A 11: 55,175,002 (GRCm39) T1904S probably benign Het
Flt3 T C 5: 147,306,291 (GRCm39) N279S possibly damaging Het
Galnt4 A G 10: 98,945,397 (GRCm39) N374S probably benign Het
Gm14401 T A 2: 176,778,224 (GRCm39) H103Q probably damaging Het
Gm5422 A T 10: 31,126,048 (GRCm39) noncoding transcript Het
Helb G A 10: 119,946,984 (GRCm39) Q110* probably null Het
Ido1 T C 8: 25,081,558 (GRCm39) D41G probably damaging Het
Igfn1 A G 1: 135,898,152 (GRCm39) S805P probably benign Het
Matr3 C A 18: 35,705,147 (GRCm39) A24E probably damaging Het
Mmp23 C T 4: 155,735,710 (GRCm39) C287Y probably damaging Het
Mrnip A G 11: 50,087,918 (GRCm39) R147G probably null Het
Msh6 A G 17: 88,292,147 (GRCm39) K301E possibly damaging Het
Or12d13 A G 17: 37,647,535 (GRCm39) L196P probably damaging Het
Or8g4 G A 9: 39,662,063 (GRCm39) C127Y probably damaging Het
Ptar1 T A 19: 23,671,776 (GRCm39) C60S probably benign Het
Rora A G 9: 68,561,203 (GRCm39) S11G probably benign Het
Rps6ka5 G T 12: 100,585,839 (GRCm39) H151Q possibly damaging Het
Sgsh A G 11: 119,241,807 (GRCm39) S100P probably damaging Het
Simc1 A G 13: 54,694,902 (GRCm39) T1229A probably benign Het
Slc26a11 T C 11: 119,248,804 (GRCm39) Y62H probably damaging Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Smg1 C T 7: 117,742,570 (GRCm39) V3215I probably benign Het
Smyd2 G A 1: 189,617,579 (GRCm39) P285L possibly damaging Het
Themis2 T C 4: 132,523,567 (GRCm39) probably null Het
Tln1 A G 4: 43,547,732 (GRCm39) V743A probably damaging Het
Tpo T A 12: 30,150,495 (GRCm39) N462Y possibly damaging Het
Wnt2 T A 6: 18,028,145 (GRCm39) M30L probably benign Het
Zfyve9 T C 4: 108,576,365 (GRCm39) I239V probably benign 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
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'- TTCTTGGGGATCAATGACGG -3'
(R):5'- TCATGGCTCCAGGTTGCTAC -3'

Sequencing Primer
(F):5'- TCAATGACGGTGCTGAGGGC -3'
(R):5'- AGGTTGCTACTGTCCCCAG -3'
Posted On 2016-11-09