Incidental Mutation 'R9642:Abcc6'
ID 726069
Institutional Source Beutler Lab
Gene Symbol Abcc6
Ensembl Gene ENSMUSG00000030834
Gene Name ATP-binding cassette, sub-family C member 6
Synonyms DCC, Mrp6, Dyscalc1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R9642 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45625804-45679915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45639765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 907 (D907Y)
Ref Sequence ENSEMBL: ENSMUSP00000002850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002850]
AlphaFold Q9R1S7
Predicted Effect probably benign
Transcript: ENSMUST00000002850
AA Change: D907Y

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: D907Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,619,412 (GRCm39) probably null Het
Aadacl3 A G 4: 144,182,512 (GRCm39) S319P probably benign Het
Apol7b T C 15: 77,308,103 (GRCm39) S131G probably benign Het
Atg2a C T 19: 6,300,198 (GRCm39) R669* probably null Het
Atr T A 9: 95,821,294 (GRCm39) I2260N probably damaging Het
Bmper T A 9: 23,395,198 (GRCm39) V643E probably benign Het
Cacna2d2 A G 9: 107,392,627 (GRCm39) I524V possibly damaging Het
Ccdc171 C A 4: 83,599,525 (GRCm39) A780E probably benign Het
Cdcp3 C A 7: 130,848,257 (GRCm39) Q688K probably benign Het
Cfhr2 A G 1: 139,738,620 (GRCm39) S314P probably damaging Het
Cops2 A T 2: 125,682,410 (GRCm39) D190E probably benign Het
Dmxl1 G A 18: 50,013,825 (GRCm39) G1538R probably damaging Het
Dyrk4 A T 6: 126,893,253 (GRCm39) V43E probably benign Het
Eif4a3l2 A G 6: 116,528,350 (GRCm39) R76G probably damaging Het
Enoph1 T C 5: 100,188,115 (GRCm39) I13T possibly damaging Het
Eya3 A T 4: 132,426,374 (GRCm39) I268F probably damaging Het
Ezh2 A C 6: 47,521,453 (GRCm39) M439R probably benign Het
Fam83c T C 2: 155,672,980 (GRCm39) N259S probably damaging Het
Gbf1 A T 19: 46,258,707 (GRCm39) M963L probably benign Het
Ghr A T 15: 3,355,469 (GRCm39) D271E probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gtse1 T A 15: 85,751,697 (GRCm39) L297I probably damaging Het
Hecw1 T A 13: 14,515,394 (GRCm39) H246L probably damaging Het
Hmox1 G A 8: 75,823,881 (GRCm39) R183H possibly damaging Het
Ifi202b A T 1: 173,799,850 (GRCm39) Y210* probably null Het
Ighv1-76 A T 12: 115,811,918 (GRCm39) I6N possibly damaging Het
Ildr1 T A 16: 36,536,490 (GRCm39) I173N probably damaging Het
Jaml T C 9: 45,000,116 (GRCm39) V138A probably damaging Het
Kmt2b A T 7: 30,283,340 (GRCm39) probably null Het
Krt87 T C 15: 101,385,074 (GRCm39) N341D probably benign Het
Map3k20 T C 2: 72,272,181 (GRCm39) W770R probably damaging Het
Mast2 A G 4: 116,170,966 (GRCm39) I667T probably damaging Het
Mdp1 T C 14: 55,896,933 (GRCm39) T71A probably damaging Het
Muc5ac A T 7: 141,349,601 (GRCm39) T505S possibly damaging Het
Mx1 A G 16: 97,256,376 (GRCm39) V181A probably damaging Het
Myo15b A G 11: 115,772,335 (GRCm39) E83G possibly damaging Het
Ncam2 A T 16: 81,418,251 (GRCm39) I769L probably benign Het
Notum T C 11: 120,550,980 (GRCm39) D62G probably damaging Het
Or4c124 A T 2: 89,155,907 (GRCm39) C206S possibly damaging Het
Or5ac22 A T 16: 59,135,610 (GRCm39) H53Q possibly damaging Het
Or7a39 C T 10: 78,715,395 (GRCm39) P130S probably damaging Het
Or8g32 T C 9: 39,305,857 (GRCm39) S254P probably damaging Het
P2rx2 A G 5: 110,489,878 (GRCm39) S196P possibly damaging Het
Pcdh7 A T 5: 57,876,717 (GRCm39) I91F probably damaging Het
Peak1 A G 9: 56,167,205 (GRCm39) V241A probably benign Het
Ppl C A 16: 4,915,602 (GRCm39) R623S probably benign Het
Prkaca A G 8: 84,717,088 (GRCm39) I151V probably benign Het
Psmb11 A T 14: 54,863,295 (GRCm39) Q171L probably benign Het
Rab3gap2 T G 1: 184,967,692 (GRCm39) F166V probably benign Het
Rab7 G A 6: 87,981,187 (GRCm39) A165V probably damaging Het
Ranbp2 T C 10: 58,318,907 (GRCm39) Y2473H probably damaging Het
Runx3 A G 4: 134,848,341 (GRCm39) probably benign Het
Sh3bp5l T A 11: 58,237,085 (GRCm39) C347* probably null Het
Smc5 A G 19: 23,238,752 (GRCm39) M208T probably damaging Het
Stk11ip T C 1: 75,510,899 (GRCm39) probably null Het
Tas2r136 A T 6: 132,754,462 (GRCm39) C222S probably benign Het
Themis2 A G 4: 132,513,047 (GRCm39) V393A possibly damaging Het
Tln2 A C 9: 67,157,826 (GRCm39) V1171G probably benign Het
Tmem63a T C 1: 180,776,393 (GRCm39) F68L probably damaging Het
Tpst1 T A 5: 130,130,959 (GRCm39) L143Q probably damaging Het
Trp63 C A 16: 25,682,508 (GRCm39) Q284K probably benign Het
Ttc17 T C 2: 94,194,735 (GRCm39) E546G probably benign Het
Ttn A G 2: 76,804,570 (GRCm39) I234T unknown Het
Upp1 A G 11: 9,085,206 (GRCm39) K231R probably benign Het
Uso1 T A 5: 92,285,967 (GRCm39) L4H probably damaging Het
Vmn1r9 T A 6: 57,048,216 (GRCm39) L97Q probably damaging Het
Vmn2r107 T C 17: 20,580,661 (GRCm39) C533R probably damaging Het
Vps35l C A 7: 118,437,451 (GRCm39) D909E probably benign Het
Wdr90 A G 17: 26,072,694 (GRCm39) probably null Het
Ydjc A G 16: 16,966,073 (GRCm39) H219R probably benign Het
Ykt6 T C 11: 5,905,917 (GRCm39) L6P probably damaging Het
Zfp236 A G 18: 82,622,384 (GRCm39) V1682A probably benign Het
Zfp35 C T 18: 24,137,155 (GRCm39) Q500* probably null Het
Zfp780b T A 7: 27,664,135 (GRCm39) D140V probably benign Het
Zyg11b T C 4: 108,117,185 (GRCm39) T352A probably damaging Het
Other mutations in Abcc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Abcc6 APN 7 45,652,096 (GRCm39) splice site probably benign
IGL01731:Abcc6 APN 7 45,652,034 (GRCm39) missense possibly damaging 0.71
IGL01743:Abcc6 APN 7 45,646,238 (GRCm39) missense probably benign 0.02
IGL01757:Abcc6 APN 7 45,639,705 (GRCm39) splice site probably benign
IGL01895:Abcc6 APN 7 45,678,482 (GRCm39) missense possibly damaging 0.88
IGL01942:Abcc6 APN 7 45,635,997 (GRCm39) missense possibly damaging 0.89
IGL02251:Abcc6 APN 7 45,626,840 (GRCm39) missense probably damaging 1.00
IGL02277:Abcc6 APN 7 45,650,485 (GRCm39) missense probably benign 0.00
IGL02548:Abcc6 APN 7 45,654,686 (GRCm39) missense probably damaging 0.98
IGL03063:Abcc6 APN 7 45,665,856 (GRCm39) missense probably benign
IGL03092:Abcc6 APN 7 45,635,894 (GRCm39) missense probably damaging 1.00
IGL03251:Abcc6 APN 7 45,631,661 (GRCm39) unclassified probably benign
R0057:Abcc6 UTSW 7 45,669,567 (GRCm39) missense probably benign 0.03
R0944:Abcc6 UTSW 7 45,664,929 (GRCm39) missense possibly damaging 0.81
R1019:Abcc6 UTSW 7 45,663,531 (GRCm39) missense possibly damaging 0.77
R1183:Abcc6 UTSW 7 45,634,677 (GRCm39) missense probably damaging 0.99
R1543:Abcc6 UTSW 7 45,665,928 (GRCm39) missense probably benign 0.01
R1550:Abcc6 UTSW 7 45,654,668 (GRCm39) missense probably benign 0.25
R1725:Abcc6 UTSW 7 45,641,781 (GRCm39) missense possibly damaging 0.76
R1907:Abcc6 UTSW 7 45,663,593 (GRCm39) missense probably benign 0.04
R1908:Abcc6 UTSW 7 45,669,558 (GRCm39) splice site probably null
R1909:Abcc6 UTSW 7 45,669,558 (GRCm39) splice site probably null
R2138:Abcc6 UTSW 7 45,630,475 (GRCm39) missense probably damaging 1.00
R2145:Abcc6 UTSW 7 45,648,165 (GRCm39) missense probably benign 0.01
R2402:Abcc6 UTSW 7 45,664,999 (GRCm39) missense probably benign 0.04
R3983:Abcc6 UTSW 7 45,644,713 (GRCm39) missense probably benign
R4013:Abcc6 UTSW 7 45,668,104 (GRCm39) missense probably benign 0.01
R4051:Abcc6 UTSW 7 45,635,987 (GRCm39) missense probably damaging 1.00
R4052:Abcc6 UTSW 7 45,635,987 (GRCm39) missense probably damaging 1.00
R4208:Abcc6 UTSW 7 45,635,987 (GRCm39) missense probably damaging 1.00
R4362:Abcc6 UTSW 7 45,648,256 (GRCm39) splice site probably benign
R4385:Abcc6 UTSW 7 45,644,752 (GRCm39) missense possibly damaging 0.93
R4399:Abcc6 UTSW 7 45,652,031 (GRCm39) missense probably benign
R4479:Abcc6 UTSW 7 45,654,663 (GRCm39) missense possibly damaging 0.60
R4480:Abcc6 UTSW 7 45,654,663 (GRCm39) missense possibly damaging 0.60
R4780:Abcc6 UTSW 7 45,646,115 (GRCm39) missense probably benign
R4791:Abcc6 UTSW 7 45,631,584 (GRCm39) missense probably benign 0.00
R4895:Abcc6 UTSW 7 45,630,414 (GRCm39) missense possibly damaging 0.95
R4898:Abcc6 UTSW 7 45,639,111 (GRCm39) missense probably damaging 0.96
R4905:Abcc6 UTSW 7 45,644,649 (GRCm39) missense probably benign
R4941:Abcc6 UTSW 7 45,661,947 (GRCm39) missense probably benign 0.00
R5040:Abcc6 UTSW 7 45,669,578 (GRCm39) missense probably benign 0.04
R5128:Abcc6 UTSW 7 45,639,070 (GRCm39) missense probably benign 0.00
R5284:Abcc6 UTSW 7 45,630,483 (GRCm39) missense probably benign 0.05
R5328:Abcc6 UTSW 7 45,641,735 (GRCm39) missense probably benign 0.01
R5459:Abcc6 UTSW 7 45,631,607 (GRCm39) missense probably benign 0.00
R5543:Abcc6 UTSW 7 45,638,960 (GRCm39) critical splice donor site probably null
R6178:Abcc6 UTSW 7 45,678,468 (GRCm39) missense probably benign
R6228:Abcc6 UTSW 7 45,679,680 (GRCm39) missense probably benign 0.02
R6532:Abcc6 UTSW 7 45,626,803 (GRCm39) missense probably damaging 1.00
R6605:Abcc6 UTSW 7 45,630,481 (GRCm39) missense probably damaging 1.00
R7000:Abcc6 UTSW 7 45,654,946 (GRCm39) missense possibly damaging 0.60
R7067:Abcc6 UTSW 7 45,668,114 (GRCm39) missense probably benign
R7553:Abcc6 UTSW 7 45,648,545 (GRCm39) missense probably damaging 1.00
R7597:Abcc6 UTSW 7 45,644,661 (GRCm39) missense probably damaging 1.00
R7718:Abcc6 UTSW 7 45,626,816 (GRCm39) missense possibly damaging 0.91
R7781:Abcc6 UTSW 7 45,655,030 (GRCm39) missense probably damaging 1.00
R7798:Abcc6 UTSW 7 45,626,277 (GRCm39) nonsense probably null
R7896:Abcc6 UTSW 7 45,626,803 (GRCm39) missense probably damaging 1.00
R8098:Abcc6 UTSW 7 45,646,089 (GRCm39) missense probably damaging 1.00
R8443:Abcc6 UTSW 7 45,629,449 (GRCm39) missense probably damaging 1.00
R8773:Abcc6 UTSW 7 45,634,569 (GRCm39) missense probably benign
R8784:Abcc6 UTSW 7 45,652,025 (GRCm39) missense probably benign
R8802:Abcc6 UTSW 7 45,658,283 (GRCm39) missense probably damaging 0.99
R8807:Abcc6 UTSW 7 45,648,431 (GRCm39) missense possibly damaging 0.67
R9006:Abcc6 UTSW 7 45,665,820 (GRCm39) missense probably benign 0.00
R9127:Abcc6 UTSW 7 45,629,184 (GRCm39) missense probably damaging 1.00
R9475:Abcc6 UTSW 7 45,665,892 (GRCm39) missense probably damaging 1.00
R9480:Abcc6 UTSW 7 45,629,197 (GRCm39) missense probably damaging 1.00
R9535:Abcc6 UTSW 7 45,626,687 (GRCm39) missense probably damaging 1.00
R9715:Abcc6 UTSW 7 45,629,359 (GRCm39) missense probably damaging 1.00
R9731:Abcc6 UTSW 7 45,669,660 (GRCm39) nonsense probably null
X0065:Abcc6 UTSW 7 45,669,621 (GRCm39) missense probably damaging 0.99
Z1176:Abcc6 UTSW 7 45,641,730 (GRCm39) critical splice donor site probably null
Z1176:Abcc6 UTSW 7 45,629,158 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTGAGGGACCAAGGTGAG -3'
(R):5'- TTCATGGATGTGTAACCCCTC -3'

Sequencing Primer
(F):5'- CCAAGGTGAGGTGGGATATTG -3'
(R):5'- CCTCCTTCCTGGGTGAATGAAGAG -3'
Posted On 2022-09-12