Incidental Mutation 'R8446:Abcf2'
ID 654489
Institutional Source Beutler Lab
Gene Symbol Abcf2
Ensembl Gene ENSMUSG00000028953
Gene Name ATP-binding cassette, sub-family F member 2
Synonyms 0710005O05Rik, Drr3
MMRRC Submission 067827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R8446 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 24770343-24782465 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 24771641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 529 (R529*)
Ref Sequence ENSEMBL: ENSMUSP00000030795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030795]
AlphaFold Q99LE6
Predicted Effect probably null
Transcript: ENSMUST00000030795
AA Change: R529*
SMART Domains Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: R529*

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
AAA 115 308 1.6e-6 SMART
AAA 427 595 6.32e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 T A 5: 36,144,645 (GRCm39) S122T Het
Arnt TG T 3: 95,382,014 (GRCm39) probably null Het
Bbs1 G A 19: 4,947,633 (GRCm39) T307I probably benign Het
Cacna1c A T 6: 118,604,411 (GRCm39) S1439T Het
Camk4 T A 18: 33,289,810 (GRCm39) H152Q probably damaging Het
Capn2 A T 1: 182,311,796 (GRCm39) M426K possibly damaging Het
Chrm3 C T 13: 9,928,338 (GRCm39) G233S probably damaging Het
Clca3a1 A T 3: 144,454,248 (GRCm39) Y461N probably damaging Het
Clip1 G C 5: 123,794,008 (GRCm39) P12A probably damaging Het
Cmya5 A G 13: 93,230,336 (GRCm39) L1584P possibly damaging Het
Commd5 T C 15: 76,785,094 (GRCm39) S164P probably damaging Het
Csgalnact1 A G 8: 68,913,743 (GRCm39) V154A probably damaging Het
Ddias C A 7: 92,515,818 (GRCm39) C25F probably damaging Het
Dnah7b A T 1: 46,329,875 (GRCm39) I3240F probably damaging Het
Fam186a T G 15: 99,845,335 (GRCm39) D303A unknown Het
Igkv8-27 A G 6: 70,148,932 (GRCm39) I74T probably damaging Het
Itgb2l G T 16: 96,233,857 (GRCm39) Q278K probably damaging Het
Itgb7 T C 15: 102,127,043 (GRCm39) E464G probably damaging Het
Kdm2a G A 19: 4,406,916 (GRCm39) Q116* probably null Het
Krtap5-2 TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA TCCACAGGAACTACA 7: 141,728,845 (GRCm39) probably benign Het
Larp1 T C 11: 57,942,035 (GRCm39) probably null Het
Lnx2 A G 5: 146,970,169 (GRCm39) L191S probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh4 T A 11: 67,144,347 (GRCm39) M1239K probably benign Het
Nckap5l C A 15: 99,323,930 (GRCm39) G858C probably benign Het
Nelfa A T 5: 34,058,982 (GRCm39) L262Q probably damaging Het
Or2j3 A G 17: 38,615,638 (GRCm39) V238A probably benign Het
Or8b46 A T 9: 38,450,964 (GRCm39) M258L probably benign Het
Pdgfa T C 5: 138,964,395 (GRCm39) T211A unknown Het
Prl3d2 A T 13: 27,307,976 (GRCm39) I86F probably benign Het
Rpf2 T A 10: 40,115,752 (GRCm39) T76S probably benign Het
Setbp1 C T 18: 78,900,971 (GRCm39) D899N probably damaging Het
Slc35c1 T A 2: 92,284,707 (GRCm39) E315D probably benign Het
Slc6a3 A T 13: 73,719,674 (GRCm39) M568L possibly damaging Het
Sorbs1 T C 19: 40,314,602 (GRCm39) M737V probably benign Het
Sox17 A G 1: 4,562,316 (GRCm39) Y295H possibly damaging Het
Tex44 A T 1: 86,354,696 (GRCm39) I202F possibly damaging Het
Tinagl1 C T 4: 130,060,694 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,673 (GRCm39) N155K probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Topbp1 T A 9: 103,186,061 (GRCm39) F68I probably damaging Het
Trim67 G T 8: 125,520,730 (GRCm39) A31S probably damaging Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ttn A C 2: 76,778,553 (GRCm39) M1316R unknown Het
Usp40 T C 1: 87,906,190 (GRCm39) T682A probably benign Het
Wfs1 A T 5: 37,128,953 (GRCm39) D272E probably benign Het
Zfp763 A T 17: 33,238,473 (GRCm39) M224K probably benign Het
Other mutations in Abcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Abcf2 APN 5 24,773,794 (GRCm39) missense possibly damaging 0.95
IGL02867:Abcf2 APN 5 24,776,149 (GRCm39) missense probably benign 0.03
IGL03325:Abcf2 APN 5 24,779,210 (GRCm39) missense probably damaging 1.00
IGL03329:Abcf2 APN 5 24,776,246 (GRCm39) critical splice acceptor site probably null
R0281:Abcf2 UTSW 5 24,771,562 (GRCm39) missense probably damaging 1.00
R0357:Abcf2 UTSW 5 24,778,463 (GRCm39) missense probably benign 0.16
R0815:Abcf2 UTSW 5 24,772,268 (GRCm39) missense probably damaging 1.00
R0835:Abcf2 UTSW 5 24,779,251 (GRCm39) missense probably damaging 0.99
R1793:Abcf2 UTSW 5 24,773,774 (GRCm39) missense probably benign
R2321:Abcf2 UTSW 5 24,772,251 (GRCm39) nonsense probably null
R5006:Abcf2 UTSW 5 24,781,535 (GRCm39) nonsense probably null
R5765:Abcf2 UTSW 5 24,778,421 (GRCm39) missense probably damaging 0.99
R6317:Abcf2 UTSW 5 24,774,156 (GRCm39) nonsense probably null
R6684:Abcf2 UTSW 5 24,774,137 (GRCm39) missense probably damaging 1.00
R6906:Abcf2 UTSW 5 24,773,840 (GRCm39) missense possibly damaging 0.90
R6980:Abcf2 UTSW 5 24,770,970 (GRCm39) missense probably benign 0.01
R8266:Abcf2 UTSW 5 24,781,589 (GRCm39) small insertion probably benign
R8267:Abcf2 UTSW 5 24,781,589 (GRCm39) small insertion probably benign
R8290:Abcf2 UTSW 5 24,781,589 (GRCm39) small insertion probably benign
R8294:Abcf2 UTSW 5 24,781,589 (GRCm39) small insertion probably benign
R8295:Abcf2 UTSW 5 24,781,589 (GRCm39) small insertion probably benign
R9038:Abcf2 UTSW 5 24,776,191 (GRCm39) missense possibly damaging 0.70
R9061:Abcf2 UTSW 5 24,778,504 (GRCm39) missense possibly damaging 0.57
R9342:Abcf2 UTSW 5 24,778,475 (GRCm39) missense probably benign
R9478:Abcf2 UTSW 5 24,770,940 (GRCm39) missense possibly damaging 0.93
R9518:Abcf2 UTSW 5 24,771,560 (GRCm39) missense possibly damaging 0.75
R9667:Abcf2 UTSW 5 24,779,185 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGATGTCGTTAGACCCTC -3'
(R):5'- CTTGGGTCATCCTAAGCTCATG -3'

Sequencing Primer
(F):5'- ATGTACCACAGCTGTGCCTCAG -3'
(R):5'- GGGTCATCCTAAGCTCATGACTTG -3'
Posted On 2020-10-20