Incidental Mutation 'R9715:Abcc6'
ID 730400
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 # R9715 (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 T at 45629359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1323 (V1323I)
Ref Sequence ENSEMBL: ENSMUSP00000002850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002850]
AlphaFold Q9R1S7
Predicted Effect probably damaging
Transcript: ENSMUST00000002850
AA Change: V1323I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: V1323I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Cbr3 A G 16: 93,481,941 (GRCm39) D99G probably benign Het
Ccdc17 T A 4: 116,455,090 (GRCm39) L215Q probably damaging Het
Cep350 A G 1: 155,751,107 (GRCm39) Y2022H probably benign Het
Cimip2c G C 5: 30,641,261 (GRCm39) D170H possibly damaging Het
Cnbd2 T C 2: 156,183,547 (GRCm39) S338P probably benign Het
D5Ertd579e A T 5: 36,787,029 (GRCm39) V113D possibly damaging Het
Dhx30 A G 9: 109,916,718 (GRCm39) F570S probably damaging Het
Ephb1 T C 9: 101,848,384 (GRCm39) N679S probably damaging Het
Faxc T C 4: 21,993,307 (GRCm39) I317T probably damaging Het
Fgd5 T C 6: 91,965,290 (GRCm39) Y508H possibly damaging Het
Foxd2 G T 4: 114,765,195 (GRCm39) A275E unknown Het
Fut9 C A 4: 25,620,679 (GRCm39) S45I probably benign Het
Gm5148 T C 3: 37,768,801 (GRCm39) N140D unknown Het
Gpr37l1 C T 1: 135,089,391 (GRCm39) G225S probably damaging Het
Gramd1c G A 16: 43,825,840 (GRCm39) S107L possibly damaging Het
Gtpbp2 A G 17: 46,478,301 (GRCm39) D483G Het
Ik G A 18: 36,886,566 (GRCm39) R346H probably benign Het
Ino80e A T 7: 126,461,098 (GRCm39) Y50N unknown Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Kbtbd2 A G 6: 56,756,566 (GRCm39) V390A probably benign Het
Limch1 A C 5: 67,156,360 (GRCm39) N276H probably damaging Het
Negr1 T G 3: 156,774,936 (GRCm39) probably null Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nlrp14 G A 7: 106,781,626 (GRCm39) M274I probably benign Het
Nr1d1 T C 11: 98,662,943 (GRCm39) I17V probably benign Het
Or10ad1b T A 15: 98,124,902 (GRCm39) D210V probably damaging Het
Or4k35 T C 2: 111,100,623 (GRCm39) I30V probably benign Het
Or5p64 A G 7: 107,855,198 (GRCm39) I49T probably benign Het
Ppip5k2 A G 1: 97,677,312 (GRCm39) V334A Het
Ppp1r9a G A 6: 5,045,936 (GRCm39) V467I probably damaging Het
Ppp2r2c A G 5: 37,097,488 (GRCm39) I225V possibly damaging Het
Ptpro A T 6: 137,345,108 (GRCm39) N38I probably damaging Het
Scn2a C A 2: 65,579,149 (GRCm39) Q1495K possibly damaging Het
Scn7a A T 2: 66,519,902 (GRCm39) Y1001N possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh3bgrl2 T A 9: 83,430,513 (GRCm39) M1K probably null Het
Slc25a12 C T 2: 71,109,899 (GRCm39) V516M probably benign Het
Sptbn4 A G 7: 27,091,000 (GRCm39) L1402P probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Svop A G 5: 114,198,169 (GRCm39) S135P probably benign Het
Sycp2 G T 2: 178,035,957 (GRCm39) D243E probably damaging Het
Tcerg1 T C 18: 42,706,413 (GRCm39) F1030S probably damaging Het
Tecta T A 9: 42,286,596 (GRCm39) N687Y probably damaging Het
Tep1 A T 14: 51,081,759 (GRCm39) H1230Q Het
Tfap2b T C 1: 19,284,373 (GRCm39) S94P probably damaging Het
Tll2 C A 19: 41,092,238 (GRCm39) G533V probably damaging Het
Vmn2r55 A G 7: 12,402,061 (GRCm39) V409A probably damaging Het
Wdr41 A G 13: 95,145,373 (GRCm39) E194G probably damaging Het
Zan G T 5: 137,398,817 (GRCm39) S4182R unknown Het
Zfpl1 T C 19: 6,134,074 (GRCm39) Y40C probably damaging Het
Znrf3 C A 11: 5,232,454 (GRCm39) R257L possibly 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
R9642:Abcc6 UTSW 7 45,639,765 (GRCm39) missense probably benign 0.07
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'- TCATCTGTGTGCTCCTGAAG -3'
(R):5'- CACAGAGACAAGTCCTGTGC -3'

Sequencing Primer
(F):5'- TGAAGCAGGTCCAGGTTCATC -3'
(R):5'- GGCAAGAGTCTTTCAGATAGGTATCC -3'
Posted On 2022-10-06