Incidental Mutation 'R4589:Abcc1'
ID 342705
Institutional Source Beutler Lab
Gene Symbol Abcc1
Ensembl Gene ENSMUSG00000023088
Gene Name ATP-binding cassette, sub-family C member 1
Synonyms Mdrap, Mrp1, MRP, Abcc1b, Abcc1a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R4589 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14211895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 157 (V157L)
Ref Sequence ENSEMBL: ENSMUSP00000115763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000134776] [ENSMUST00000144676] [ENSMUST00000147759] [ENSMUST00000154748]
AlphaFold O35379
Predicted Effect probably benign
Transcript: ENSMUST00000100167
AA Change: V144L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: V144L

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 7.8e-44 PFAM
AAA 670 845 4.07e-8 SMART
Pfam:ABC_membrane 971 1243 3e-52 PFAM
AAA 1316 1501 5.8e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130671
AA Change: V144L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: V144L

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133454
AA Change: V144L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: V144L

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134776
AA Change: V144L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120933
Gene: ENSMUSG00000023088
AA Change: V144L

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144074
Predicted Effect probably benign
Transcript: ENSMUST00000144676
SMART Domains Protein: ENSMUSP00000116726
Gene: ENSMUSG00000023088

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 63 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147759
AA Change: V144L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: V144L

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154748
AA Change: V157L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115763
Gene: ENSMUSG00000023088
AA Change: V157L

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: The membrane-associated 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein plays an essential role in the defense against toxic compounds and serves as the major high-affinity transporter of leukotriene C4. The encoded protein may also play an essential role in steroid hormone homeostasis as a transporter for steroid hormones and their metabolites. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 G A 12: 80,218,573 (GRCm39) T737I possibly damaging Het
Ada T C 2: 163,574,868 (GRCm39) K90E possibly damaging Het
Ap2b1 T A 11: 83,223,837 (GRCm39) L184* probably null Het
Arfgef3 T C 10: 18,521,947 (GRCm39) D693G probably damaging Het
Arid4a A T 12: 71,116,738 (GRCm39) I277F probably damaging Het
Armh4 A G 14: 50,011,039 (GRCm39) S223P probably damaging Het
Ccdc171 A G 4: 83,467,855 (GRCm39) S67G probably benign Het
Ccr5 T A 9: 123,924,539 (GRCm39) F47L probably benign Het
Clip4 T A 17: 72,117,862 (GRCm39) C302* probably null Het
Cyth1 C T 11: 118,075,811 (GRCm39) V142I possibly damaging Het
Ddx59 T A 1: 136,367,480 (GRCm39) probably null Het
Def6 G T 17: 28,447,121 (GRCm39) R584L probably benign Het
Dnah7c C A 1: 46,553,743 (GRCm39) Y340* probably null Het
Eif2ak4 T G 2: 118,247,819 (GRCm39) C173W probably damaging Het
Gm14403 C T 2: 177,200,428 (GRCm39) H125Y probably benign Het
Grk3 T C 5: 113,089,584 (GRCm39) I323V possibly damaging Het
Homez G T 14: 55,094,487 (GRCm39) T407K probably damaging Het
Igdcc4 A G 9: 65,037,910 (GRCm39) T763A probably damaging Het
Ighg2b A T 12: 113,270,104 (GRCm39) W305R unknown Het
Il27ra G T 8: 84,763,038 (GRCm39) N296K probably damaging Het
Lzic G T 4: 149,572,561 (GRCm39) L50F probably damaging Het
Mbtd1 T C 11: 93,812,245 (GRCm39) V183A probably damaging Het
Mme T A 3: 63,287,693 (GRCm39) D731E probably benign Het
Mocos T C 18: 24,787,095 (GRCm39) L38P probably damaging Het
Mrps18a T C 17: 46,428,899 (GRCm39) probably null Het
Msh2 T A 17: 87,987,460 (GRCm39) V200D possibly damaging Het
Mug1 A T 6: 121,834,310 (GRCm39) I364F probably benign Het
Mycbp2 G T 14: 103,414,749 (GRCm39) S2554R probably benign Het
Nat10 A G 2: 103,584,415 (GRCm39) C121R probably damaging Het
Nfatc3 T A 8: 106,805,705 (GRCm39) D183E probably damaging Het
Odr4 C T 1: 150,260,238 (GRCm39) V127I probably benign Het
Or4d10c T C 19: 12,065,305 (GRCm39) I284V possibly damaging Het
Or51ac3 A T 7: 103,213,639 (GRCm39) F282L probably damaging Het
Or52h1 C A 7: 103,828,636 (GRCm39) probably null Het
Or5d14 T C 2: 87,880,823 (GRCm39) I48M probably benign Het
Pak6 T A 2: 118,527,021 (GRCm39) I672K probably damaging Het
Pan3 A T 5: 147,479,983 (GRCm39) I830F probably damaging Het
Pcdh9 A T 14: 94,125,628 (GRCm39) L181I probably damaging Het
Pigg G A 5: 108,480,556 (GRCm39) A447T probably benign Het
Pitpnb T A 5: 111,519,214 (GRCm39) S165T probably damaging Het
Pla2g2a A G 4: 138,560,590 (GRCm39) Y67C probably damaging Het
Plch1 A G 3: 63,688,928 (GRCm39) I80T probably damaging Het
Pnma1 A G 12: 84,194,235 (GRCm39) I156T probably benign Het
Prss21 G T 17: 24,091,796 (GRCm39) D255Y possibly damaging Het
Prune1 T A 3: 95,169,642 (GRCm39) I187F possibly damaging Het
Rab7b T C 1: 131,633,385 (GRCm39) F78L probably benign Het
Riok3 T A 18: 12,269,844 (GRCm39) Y92N probably benign Het
Rpap2 T C 5: 107,768,361 (GRCm39) S400P probably benign Het
Ryr3 C A 2: 112,705,478 (GRCm39) G792V probably damaging Het
Septin3 A G 15: 82,170,092 (GRCm39) E206G probably damaging Het
Stkld1 T C 2: 26,840,679 (GRCm39) S454P probably damaging Het
Tdh A T 14: 63,733,326 (GRCm39) L140Q probably damaging Het
Tex15 T A 8: 34,047,401 (GRCm39) H159Q probably damaging Het
Tmed6 C T 8: 107,790,793 (GRCm39) V85I probably benign Het
Vmn1r174 T A 7: 23,454,204 (GRCm39) L290* probably null Het
Vmn1r31 A G 6: 58,449,596 (GRCm39) S90P probably damaging Het
Vmn2r55 T C 7: 12,404,822 (GRCm39) T194A probably damaging Het
Vmn2r82 A T 10: 79,192,548 (GRCm39) I42F probably damaging Het
Vps35 G A 8: 86,014,331 (GRCm39) P106L probably damaging Het
Xrcc6 T A 15: 81,906,661 (GRCm39) Y69N probably damaging Het
Zbtb14 C T 17: 69,695,465 (GRCm39) P388S probably damaging Het
Zfp541 C T 7: 15,817,261 (GRCm39) A902V probably benign Het
Other mutations in Abcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Abcc1 APN 16 14,278,847 (GRCm39) missense probably benign 0.34
IGL00094:Abcc1 APN 16 14,288,398 (GRCm39) missense probably null 0.00
IGL00475:Abcc1 APN 16 14,254,437 (GRCm39) missense probably damaging 1.00
IGL00516:Abcc1 APN 16 14,231,176 (GRCm39) nonsense probably null
IGL00765:Abcc1 APN 16 14,229,372 (GRCm39) missense probably damaging 0.99
IGL00792:Abcc1 APN 16 14,228,790 (GRCm39) missense probably benign 0.18
IGL01678:Abcc1 APN 16 14,222,883 (GRCm39) missense probably null 0.96
IGL01683:Abcc1 APN 16 14,214,288 (GRCm39) missense probably damaging 1.00
IGL01955:Abcc1 APN 16 14,228,659 (GRCm39) missense probably damaging 1.00
IGL02048:Abcc1 APN 16 14,229,383 (GRCm39) missense probably damaging 0.98
IGL02345:Abcc1 APN 16 14,214,215 (GRCm39) missense possibly damaging 0.95
IGL02366:Abcc1 APN 16 14,285,843 (GRCm39) splice site probably benign
IGL02431:Abcc1 APN 16 14,237,598 (GRCm39) missense probably damaging 1.00
IGL02480:Abcc1 APN 16 14,221,869 (GRCm39) missense possibly damaging 0.87
IGL02651:Abcc1 APN 16 14,283,990 (GRCm39) missense probably benign 0.00
IGL02902:Abcc1 APN 16 14,240,991 (GRCm39) missense probably damaging 1.00
IGL03101:Abcc1 APN 16 14,207,732 (GRCm39) missense probably damaging 1.00
IGL03230:Abcc1 APN 16 14,275,811 (GRCm39) missense probably benign
IGL03308:Abcc1 APN 16 14,288,475 (GRCm39) missense possibly damaging 0.55
gloom UTSW 16 14,229,480 (GRCm39) missense probably damaging 1.00
loom UTSW 16 14,290,794 (GRCm39) missense probably damaging 0.96
PIT4544001:Abcc1 UTSW 16 14,222,943 (GRCm39) missense probably damaging 1.00
R0310:Abcc1 UTSW 16 14,228,791 (GRCm39) missense probably damaging 0.98
R0594:Abcc1 UTSW 16 14,207,744 (GRCm39) missense probably benign 0.05
R0894:Abcc1 UTSW 16 14,283,001 (GRCm39) missense possibly damaging 0.64
R0928:Abcc1 UTSW 16 14,207,849 (GRCm39) critical splice donor site probably null
R1367:Abcc1 UTSW 16 14,261,250 (GRCm39) missense probably damaging 1.00
R1496:Abcc1 UTSW 16 14,266,298 (GRCm39) missense probably damaging 1.00
R1643:Abcc1 UTSW 16 14,231,232 (GRCm39) missense probably damaging 1.00
R1795:Abcc1 UTSW 16 14,283,001 (GRCm39) missense possibly damaging 0.64
R1834:Abcc1 UTSW 16 14,240,981 (GRCm39) missense possibly damaging 0.88
R1847:Abcc1 UTSW 16 14,263,313 (GRCm39) missense probably benign 0.02
R1959:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R1961:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R2017:Abcc1 UTSW 16 14,279,068 (GRCm39) missense probably damaging 1.00
R2224:Abcc1 UTSW 16 14,289,932 (GRCm39) missense probably damaging 1.00
R2377:Abcc1 UTSW 16 14,285,787 (GRCm39) missense probably damaging 0.97
R2513:Abcc1 UTSW 16 14,290,873 (GRCm39) splice site probably null
R2876:Abcc1 UTSW 16 14,275,824 (GRCm39) missense probably benign
R3003:Abcc1 UTSW 16 14,254,393 (GRCm39) missense probably damaging 1.00
R3941:Abcc1 UTSW 16 14,214,263 (GRCm39) missense probably benign 0.00
R4119:Abcc1 UTSW 16 14,211,877 (GRCm39) missense probably benign 0.43
R4191:Abcc1 UTSW 16 14,207,728 (GRCm39) missense probably damaging 1.00
R4369:Abcc1 UTSW 16 14,278,857 (GRCm39) missense possibly damaging 0.88
R4428:Abcc1 UTSW 16 14,263,164 (GRCm39) missense probably damaging 0.97
R4779:Abcc1 UTSW 16 14,228,635 (GRCm39) missense probably benign 0.35
R5027:Abcc1 UTSW 16 14,221,917 (GRCm39) critical splice donor site probably null
R5275:Abcc1 UTSW 16 14,284,050 (GRCm39) missense probably damaging 1.00
R5418:Abcc1 UTSW 16 14,278,996 (GRCm39) missense probably benign 0.02
R5490:Abcc1 UTSW 16 14,228,781 (GRCm39) missense probably damaging 1.00
R5527:Abcc1 UTSW 16 14,278,842 (GRCm39) missense probably benign 0.18
R5641:Abcc1 UTSW 16 14,289,877 (GRCm39) missense probably benign 0.00
R5642:Abcc1 UTSW 16 14,261,319 (GRCm39) missense probably damaging 1.00
R5875:Abcc1 UTSW 16 14,284,901 (GRCm39) missense possibly damaging 0.94
R5916:Abcc1 UTSW 16 14,283,006 (GRCm39) missense possibly damaging 0.95
R6112:Abcc1 UTSW 16 14,278,780 (GRCm39) missense probably damaging 1.00
R6331:Abcc1 UTSW 16 14,282,920 (GRCm39) missense probably damaging 0.97
R6464:Abcc1 UTSW 16 14,265,354 (GRCm39) missense probably damaging 1.00
R6950:Abcc1 UTSW 16 14,229,480 (GRCm39) missense probably damaging 1.00
R7024:Abcc1 UTSW 16 14,231,247 (GRCm39) critical splice donor site probably null
R7115:Abcc1 UTSW 16 14,255,589 (GRCm39) missense probably benign 0.11
R7187:Abcc1 UTSW 16 14,284,861 (GRCm39) missense probably benign
R7298:Abcc1 UTSW 16 14,214,336 (GRCm39) missense possibly damaging 0.89
R7342:Abcc1 UTSW 16 14,283,033 (GRCm39) missense probably damaging 0.99
R7474:Abcc1 UTSW 16 14,290,850 (GRCm39) missense possibly damaging 0.95
R7488:Abcc1 UTSW 16 14,207,763 (GRCm39) nonsense probably null
R7583:Abcc1 UTSW 16 14,221,902 (GRCm39) missense probably damaging 1.00
R7619:Abcc1 UTSW 16 14,263,283 (GRCm39) missense probably damaging 0.96
R7971:Abcc1 UTSW 16 14,266,443 (GRCm39) missense probably benign
R8048:Abcc1 UTSW 16 14,228,708 (GRCm39) missense probably damaging 1.00
R8138:Abcc1 UTSW 16 14,290,751 (GRCm39) missense probably damaging 0.99
R8159:Abcc1 UTSW 16 14,290,794 (GRCm39) missense probably damaging 0.96
R8319:Abcc1 UTSW 16 14,214,315 (GRCm39) missense probably damaging 1.00
R8859:Abcc1 UTSW 16 14,214,225 (GRCm39) missense probably benign 0.00
R8980:Abcc1 UTSW 16 14,278,961 (GRCm39) missense probably damaging 0.99
R9480:Abcc1 UTSW 16 14,211,889 (GRCm39) missense probably damaging 1.00
R9519:Abcc1 UTSW 16 14,207,681 (GRCm39) missense probably benign
R9653:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R9708:Abcc1 UTSW 16 14,254,417 (GRCm39) missense probably damaging 1.00
R9725:Abcc1 UTSW 16 14,290,797 (GRCm39) missense possibly damaging 0.52
R9786:Abcc1 UTSW 16 14,222,927 (GRCm39) missense probably damaging 1.00
X0026:Abcc1 UTSW 16 14,277,766 (GRCm39) missense possibly damaging 0.94
Z1088:Abcc1 UTSW 16 14,228,673 (GRCm39) missense probably benign 0.01
Z1177:Abcc1 UTSW 16 14,229,357 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACTCTTTAGGTAGCGGCAG -3'
(R):5'- ATTCGCTGGCGTAGAGATG -3'

Sequencing Primer
(F):5'- TAGCGGCAGTGGTACAGCTG -3'
(R):5'- CTGGCGTAGAGATGGTCCTG -3'
Posted On 2015-09-24