Incidental Mutation 'R4791:Abcc6'
ID 368575
Institutional Source Beutler Lab
Gene Symbol Abcc6
Ensembl Gene ENSMUSG00000030834
Gene Name ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Synonyms Mrp6, DCC, Dyscalc1
MMRRC Submission 041976-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.841) question?
Stock # R4791 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45967555-46030302 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45982160 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1231 (V1231M)
Ref Sequence ENSEMBL: ENSMUSP00000002850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002850]
AlphaFold Q9R1S7
Predicted Effect probably benign
Transcript: ENSMUST00000002850
AA Change: V1231M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: V1231M

DomainStartEndE-ValueType
transmembrane domain 44 61 N/A INTRINSIC
transmembrane domain 81 100 N/A INTRINSIC
transmembrane domain 110 129 N/A INTRINSIC
transmembrane domain 142 161 N/A INTRINSIC
transmembrane domain 171 193 N/A INTRINSIC
Pfam:ABC_membrane 309 580 3.5e-29 PFAM
AAA 653 828 1.19e-9 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:ABC_membrane 942 1211 2.5e-32 PFAM
AAA 1286 1473 1.71e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209985
Predicted Effect probably benign
Transcript: ENSMUST00000211220
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: 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. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik G T 6: 50,595,837 (GRCm38) P32Q probably damaging Het
Agl A G 3: 116,786,528 (GRCm38) probably null Het
Ak7 T C 12: 105,710,145 (GRCm38) F35L probably benign Het
Aldh1a1 A G 19: 20,619,985 (GRCm38) N110S probably damaging Het
Arhgef5 C T 6: 43,283,183 (GRCm38) L1368F probably damaging Het
Atp5j2 T C 5: 145,184,555 (GRCm38) Y72C possibly damaging Het
Atp6v0a2 T G 5: 124,646,727 (GRCm38) F317V probably benign Het
Bank1 A T 3: 136,254,929 (GRCm38) S56T probably benign Het
BC080695 A G 4: 143,570,989 (GRCm38) probably benign Het
Cachd1 T A 4: 100,918,085 (GRCm38) C166S probably damaging Het
Cand1 A G 10: 119,210,702 (GRCm38) I961T probably benign Het
Ccdc73 G A 2: 104,981,105 (GRCm38) probably null Het
Cct6b A T 11: 82,742,004 (GRCm38) probably null Het
Chd2 A C 7: 73,468,577 (GRCm38) S1098A probably benign Het
Col6a4 A T 9: 106,080,202 (GRCm38) V141E possibly damaging Het
Col6a5 T C 9: 105,930,784 (GRCm38) T1022A unknown Het
Cr2 A T 1: 195,155,935 (GRCm38) C698S probably damaging Het
Diexf G A 1: 193,128,267 (GRCm38) H143Y probably benign Het
Dnaaf5 C A 5: 139,184,650 (GRCm38) Q786K possibly damaging Het
Dnah6 T C 6: 73,095,074 (GRCm38) D2423G probably benign Het
Dnhd1 T C 7: 105,721,117 (GRCm38) F4583S probably damaging Het
Duoxa2 A T 2: 122,301,198 (GRCm38) T123S probably damaging Het
Edem1 T G 6: 108,841,634 (GRCm38) V201G probably damaging Het
Eef1d C T 15: 75,903,682 (GRCm38) A43T possibly damaging Het
Elavl3 T C 9: 22,024,678 (GRCm38) K249E probably damaging Het
Epg5 G T 18: 77,948,996 (GRCm38) E303* probably null Het
Fam83h T C 15: 76,002,368 (GRCm38) D1040G probably damaging Het
Fndc7 A T 3: 108,876,659 (GRCm38) F211L probably benign Het
Fsip2 A G 2: 82,982,108 (GRCm38) T2924A possibly damaging Het
Gm5616 T C 9: 48,450,683 (GRCm38) noncoding transcript Het
Gpr135 T A 12: 72,069,868 (GRCm38) D375V probably benign Het
Hgd A G 16: 37,631,825 (GRCm38) *446W probably null Het
Hivep2 C A 10: 14,128,969 (GRCm38) T437K probably benign Het
Htra2 A G 6: 83,051,817 (GRCm38) L379P probably damaging Het
Hypk G T 2: 121,457,655 (GRCm38) probably null Het
Ica1l A G 1: 60,010,201 (GRCm38) F198L probably damaging Het
Igsf11 G A 16: 39,024,864 (GRCm38) S319N probably damaging Het
Il12rb1 T C 8: 70,813,368 (GRCm38) S213P possibly damaging Het
Katnal1 C T 5: 148,904,650 (GRCm38) V135M probably damaging Het
Kcnc4 G A 3: 107,447,543 (GRCm38) P530S probably benign Het
Kcnu1 T C 8: 25,913,752 (GRCm38) Y24H probably damaging Het
Kdm5b A G 1: 134,630,800 (GRCm38) E1515G possibly damaging Het
Kif18a A T 2: 109,287,875 (GRCm38) M12L probably benign Het
Klre1 T C 6: 129,584,155 (GRCm38) S160P probably damaging Het
Lama2 A T 10: 27,467,271 (GRCm38) H68Q probably damaging Het
Lgals8 T C 13: 12,453,322 (GRCm38) K49R possibly damaging Het
Lmf1 G A 17: 25,654,471 (GRCm38) V317M probably damaging Het
Lsr T C 7: 30,958,552 (GRCm38) T328A probably damaging Het
Mark4 C T 7: 19,451,657 (GRCm38) E51K probably benign Het
Mindy2 T C 9: 70,634,001 (GRCm38) probably null Het
Mkks G A 2: 136,876,162 (GRCm38) T400I probably benign Het
Mon2 T A 10: 123,006,057 (GRCm38) M1544L probably benign Het
Mrc2 G A 11: 105,348,431 (GRCm38) probably null Het
Myo5c T G 9: 75,290,916 (GRCm38) L1341R probably damaging Het
Nin T C 12: 70,043,807 (GRCm38) R945G possibly damaging Het
Nox4 T C 7: 87,304,847 (GRCm38) V120A probably benign Het
Olfr1196 C T 2: 88,700,898 (GRCm38) V144I probably benign Het
Olfr1496 T A 19: 13,781,342 (GRCm38) C243* probably null Het
Olfr169 G T 16: 19,566,663 (GRCm38) H73Q possibly damaging Het
Olfr30 A T 11: 58,455,544 (GRCm38) V135E possibly damaging Het
Olfr847 T C 9: 19,375,809 (GRCm38) E24G probably benign Het
Plekha2 T A 8: 25,042,762 (GRCm38) R398W probably damaging Het
Pradc1 A G 6: 85,447,191 (GRCm38) W58R probably damaging Het
Prrc2b A G 2: 32,217,339 (GRCm38) probably null Het
Psg19 T A 7: 18,794,146 (GRCm38) N224I probably damaging Het
Ranbp17 A C 11: 33,487,746 (GRCm38) V164G probably benign Het
Rasgrp3 A G 17: 75,500,173 (GRCm38) S211G probably benign Het
Rcc1l G A 5: 134,163,776 (GRCm38) P270S possibly damaging Het
Rfx6 T A 10: 51,719,944 (GRCm38) probably null Het
Rnf222 A T 11: 68,893,019 (GRCm38) E137D probably damaging Het
Selenof T G 3: 144,596,823 (GRCm38) Y120D probably damaging Het
Sema3b G T 9: 107,603,813 (GRCm38) D108E probably damaging Het
Shank3 T A 15: 89,500,354 (GRCm38) L143Q probably damaging Het
Shtn1 G C 19: 59,050,873 (GRCm38) R45G probably damaging Het
Sirt4 T C 5: 115,480,314 (GRCm38) T234A possibly damaging Het
Slc25a30 C A 14: 75,763,366 (GRCm38) W266L probably benign Het
Spata20 A T 11: 94,484,586 (GRCm38) N127K probably damaging Het
St14 C T 9: 31,095,622 (GRCm38) G636D probably benign Het
Stat5a G A 11: 100,865,463 (GRCm38) E170K probably damaging Het
Sugp2 C T 8: 70,242,790 (GRCm38) R138C probably damaging Het
Sult1e1 C A 5: 87,586,730 (GRCm38) W119L possibly damaging Het
Sv2a T C 3: 96,192,558 (GRCm38) V608A possibly damaging Het
Syne2 T C 12: 75,909,244 (GRCm38) Y575H possibly damaging Het
Taok2 G A 7: 126,868,132 (GRCm38) S167L possibly damaging Het
Thoc6 T C 17: 23,670,067 (GRCm38) H151R possibly damaging Het
Tm9sf2 T C 14: 122,139,650 (GRCm38) S197P probably benign Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,511,994 (GRCm38) probably benign Het
Tmx2 G A 2: 84,677,996 (GRCm38) P15L probably damaging Het
Top1mt C T 15: 75,668,625 (GRCm38) probably null Het
Trpm6 T A 19: 18,867,981 (GRCm38) S1682T probably benign Het
Trrap C T 5: 144,803,277 (GRCm38) R1171W probably damaging Het
Ugt3a2 A G 15: 9,361,579 (GRCm38) D147G probably damaging Het
Vnn3 A G 10: 23,864,621 (GRCm38) H274R probably benign Het
Vwf C A 6: 125,643,363 (GRCm38) T1668K Het
Zfp568 T C 7: 30,015,183 (GRCm38) S162P probably damaging Het
Zfp658 T A 7: 43,574,466 (GRCm38) C722S possibly damaging Het
Zfp808 T A 13: 62,171,231 (GRCm38) H91Q probably damaging Het
Other mutations in Abcc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Abcc6 APN 7 46,002,672 (GRCm38) splice site probably benign
IGL01731:Abcc6 APN 7 46,002,610 (GRCm38) missense possibly damaging 0.71
IGL01743:Abcc6 APN 7 45,996,814 (GRCm38) missense probably benign 0.02
IGL01757:Abcc6 APN 7 45,990,281 (GRCm38) splice site probably benign
IGL01895:Abcc6 APN 7 46,029,058 (GRCm38) missense possibly damaging 0.88
IGL01942:Abcc6 APN 7 45,986,573 (GRCm38) missense possibly damaging 0.89
IGL02251:Abcc6 APN 7 45,977,416 (GRCm38) missense probably damaging 1.00
IGL02277:Abcc6 APN 7 46,001,061 (GRCm38) missense probably benign 0.00
IGL02548:Abcc6 APN 7 46,005,262 (GRCm38) missense probably damaging 0.98
IGL03063:Abcc6 APN 7 46,016,432 (GRCm38) missense probably benign
IGL03092:Abcc6 APN 7 45,986,470 (GRCm38) missense probably damaging 1.00
IGL03251:Abcc6 APN 7 45,982,237 (GRCm38) unclassified probably benign
R0057:Abcc6 UTSW 7 46,020,143 (GRCm38) missense probably benign 0.03
R0944:Abcc6 UTSW 7 46,015,505 (GRCm38) missense possibly damaging 0.81
R1019:Abcc6 UTSW 7 46,014,107 (GRCm38) missense possibly damaging 0.77
R1183:Abcc6 UTSW 7 45,985,253 (GRCm38) missense probably damaging 0.99
R1543:Abcc6 UTSW 7 46,016,504 (GRCm38) missense probably benign 0.01
R1550:Abcc6 UTSW 7 46,005,244 (GRCm38) missense probably benign 0.25
R1725:Abcc6 UTSW 7 45,992,357 (GRCm38) missense possibly damaging 0.76
R1907:Abcc6 UTSW 7 46,014,169 (GRCm38) missense probably benign 0.04
R1908:Abcc6 UTSW 7 46,020,134 (GRCm38) splice site probably null
R1909:Abcc6 UTSW 7 46,020,134 (GRCm38) splice site probably null
R2138:Abcc6 UTSW 7 45,981,051 (GRCm38) missense probably damaging 1.00
R2145:Abcc6 UTSW 7 45,998,741 (GRCm38) missense probably benign 0.01
R2402:Abcc6 UTSW 7 46,015,575 (GRCm38) missense probably benign 0.04
R3983:Abcc6 UTSW 7 45,995,289 (GRCm38) missense probably benign
R4013:Abcc6 UTSW 7 46,018,680 (GRCm38) missense probably benign 0.01
R4051:Abcc6 UTSW 7 45,986,563 (GRCm38) missense probably damaging 1.00
R4052:Abcc6 UTSW 7 45,986,563 (GRCm38) missense probably damaging 1.00
R4208:Abcc6 UTSW 7 45,986,563 (GRCm38) missense probably damaging 1.00
R4362:Abcc6 UTSW 7 45,998,832 (GRCm38) splice site probably benign
R4385:Abcc6 UTSW 7 45,995,328 (GRCm38) missense possibly damaging 0.93
R4399:Abcc6 UTSW 7 46,002,607 (GRCm38) missense probably benign
R4479:Abcc6 UTSW 7 46,005,239 (GRCm38) missense possibly damaging 0.60
R4480:Abcc6 UTSW 7 46,005,239 (GRCm38) missense possibly damaging 0.60
R4780:Abcc6 UTSW 7 45,996,691 (GRCm38) missense probably benign
R4895:Abcc6 UTSW 7 45,980,990 (GRCm38) missense possibly damaging 0.95
R4898:Abcc6 UTSW 7 45,989,687 (GRCm38) missense probably damaging 0.96
R4905:Abcc6 UTSW 7 45,995,225 (GRCm38) missense probably benign
R4941:Abcc6 UTSW 7 46,012,523 (GRCm38) missense probably benign 0.00
R5040:Abcc6 UTSW 7 46,020,154 (GRCm38) missense probably benign 0.04
R5128:Abcc6 UTSW 7 45,989,646 (GRCm38) missense probably benign 0.00
R5284:Abcc6 UTSW 7 45,981,059 (GRCm38) missense probably benign 0.05
R5328:Abcc6 UTSW 7 45,992,311 (GRCm38) missense probably benign 0.01
R5459:Abcc6 UTSW 7 45,982,183 (GRCm38) missense probably benign 0.00
R5543:Abcc6 UTSW 7 45,989,536 (GRCm38) critical splice donor site probably null
R6178:Abcc6 UTSW 7 46,029,044 (GRCm38) missense probably benign
R6228:Abcc6 UTSW 7 46,030,256 (GRCm38) missense probably benign 0.02
R6532:Abcc6 UTSW 7 45,977,379 (GRCm38) missense probably damaging 1.00
R6605:Abcc6 UTSW 7 45,981,057 (GRCm38) missense probably damaging 1.00
R7000:Abcc6 UTSW 7 46,005,522 (GRCm38) missense possibly damaging 0.60
R7067:Abcc6 UTSW 7 46,018,690 (GRCm38) missense probably benign
R7553:Abcc6 UTSW 7 45,999,121 (GRCm38) missense probably damaging 1.00
R7597:Abcc6 UTSW 7 45,995,237 (GRCm38) missense probably damaging 1.00
R7718:Abcc6 UTSW 7 45,977,392 (GRCm38) missense possibly damaging 0.91
R7781:Abcc6 UTSW 7 46,005,606 (GRCm38) missense probably damaging 1.00
R7798:Abcc6 UTSW 7 45,976,853 (GRCm38) nonsense probably null
R7896:Abcc6 UTSW 7 45,977,379 (GRCm38) missense probably damaging 1.00
R8098:Abcc6 UTSW 7 45,996,665 (GRCm38) missense probably damaging 1.00
R8443:Abcc6 UTSW 7 45,980,025 (GRCm38) missense probably damaging 1.00
R8773:Abcc6 UTSW 7 45,985,145 (GRCm38) missense probably benign
R8784:Abcc6 UTSW 7 46,002,601 (GRCm38) missense probably benign
R8802:Abcc6 UTSW 7 46,008,859 (GRCm38) missense probably damaging 0.99
R8807:Abcc6 UTSW 7 45,999,007 (GRCm38) missense possibly damaging 0.67
R9006:Abcc6 UTSW 7 46,016,396 (GRCm38) missense probably benign 0.00
R9127:Abcc6 UTSW 7 45,979,760 (GRCm38) missense probably damaging 1.00
R9475:Abcc6 UTSW 7 46,016,468 (GRCm38) missense probably damaging 1.00
R9480:Abcc6 UTSW 7 45,979,773 (GRCm38) missense probably damaging 1.00
R9535:Abcc6 UTSW 7 45,977,263 (GRCm38) missense probably damaging 1.00
R9642:Abcc6 UTSW 7 45,990,341 (GRCm38) missense probably benign 0.07
R9715:Abcc6 UTSW 7 45,979,935 (GRCm38) missense probably damaging 1.00
R9731:Abcc6 UTSW 7 46,020,236 (GRCm38) nonsense probably null
X0065:Abcc6 UTSW 7 46,020,197 (GRCm38) missense probably damaging 0.99
Z1176:Abcc6 UTSW 7 45,992,306 (GRCm38) critical splice donor site probably null
Z1176:Abcc6 UTSW 7 45,979,734 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACATACCCAGCAGAGCTAG -3'
(R):5'- TCTTATTAGCCAAGCCCCAC -3'

Sequencing Primer
(F):5'- GTAAGCAGGGTTTTAACTCTTCAC -3'
(R):5'- GGCCCAGGTCCTCAACTTC -3'
Posted On 2016-02-04