Incidental Mutation 'R9786:Abcc1'
ID 734362
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
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R9786 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14222927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 243 (S243P)
Ref Sequence ENSEMBL: ENSMUSP00000097743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000134776] [ENSMUST00000147759]
AlphaFold O35379
Predicted Effect probably damaging
Transcript: ENSMUST00000100167
AA Change: S243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: S243P

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 damaging
Transcript: ENSMUST00000130671
AA Change: S243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: S243P

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 damaging
Transcript: ENSMUST00000133454
AA Change: S243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: S243P

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
SMART Domains Protein: ENSMUSP00000120933
Gene: ENSMUSG00000023088

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 probably damaging
Transcript: ENSMUST00000147759
AA Change: S243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: S243P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,502,536 (GRCm39) M232K possibly damaging Het
Acsl1 T C 8: 46,974,486 (GRCm39) Y320H probably damaging Het
Adam11 A G 11: 102,653,090 (GRCm39) S61G probably benign Het
Adamts1 G A 16: 85,592,302 (GRCm39) T965I probably benign Het
Adcyap1r1 T A 6: 55,456,182 (GRCm39) M190K probably damaging Het
Ankrd2 T A 19: 42,033,358 (GRCm39) L300Q Het
Ankrd27 A T 7: 35,291,294 (GRCm39) Q30L possibly damaging Het
Atp8b5 T A 4: 43,305,798 (GRCm39) I114K probably damaging Het
Atrn A T 2: 130,786,809 (GRCm39) I205F probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Boc C T 16: 44,311,692 (GRCm39) R677H Het
Calhm6 A G 10: 34,003,643 (GRCm39) F88S probably benign Het
Ccdc121rt3 T A 5: 112,502,939 (GRCm39) E255V probably benign Het
Dpysl3 G T 18: 43,462,922 (GRCm39) T485K probably damaging Het
Esyt3 T C 9: 99,194,038 (GRCm39) D867G possibly damaging Het
Fam178b G A 1: 36,603,517 (GRCm39) T478I probably damaging Het
Foxd2 G T 4: 114,764,850 (GRCm39) T390K possibly damaging Het
Furin A G 7: 80,040,645 (GRCm39) V731A probably benign Het
Grin2a T A 16: 9,471,466 (GRCm39) I601F possibly damaging Het
Hat1 G A 2: 71,250,959 (GRCm39) R169Q possibly damaging Het
Ighe G C 12: 113,236,851 (GRCm39) Q6E Het
Ighv8-2 T C 12: 114,426,179 (GRCm39) I31V probably benign Het
Klk1 A G 7: 43,878,104 (GRCm39) D120G probably damaging Het
Kmt2e A G 5: 23,702,982 (GRCm39) D1054G probably benign Het
Lamp5 A T 2: 135,910,998 (GRCm39) I244F probably damaging Het
Maco1 A T 4: 134,557,993 (GRCm39) Y173* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mfsd4b1 T C 10: 39,878,865 (GRCm39) E344G probably damaging Het
Mns1 A G 9: 72,346,556 (GRCm39) K13R probably benign Het
Mrpl43 C T 19: 44,994,346 (GRCm39) S91N probably benign Het
Mtbp T C 15: 55,481,032 (GRCm39) S706P probably benign Het
Nelfb A T 2: 25,095,145 (GRCm39) V348D probably damaging Het
Or1l8 T A 2: 36,817,416 (GRCm39) K237* probably null Het
Or5p72 A T 7: 108,021,924 (GRCm39) I49F probably benign Het
Or7g20 C T 9: 18,947,241 (GRCm39) A274V possibly damaging Het
Or8k18 G A 2: 86,085,428 (GRCm39) S203L probably benign Het
Or8s8 T C 15: 98,354,713 (GRCm39) I174T possibly damaging Het
Pde6c T C 19: 38,140,009 (GRCm39) I324T possibly damaging Het
Phlpp2 T A 8: 110,660,655 (GRCm39) L770* probably null Het
Pik3c2b T A 1: 133,019,338 (GRCm39) F1029I possibly damaging Het
Rfx2 A T 17: 57,087,890 (GRCm39) S500R probably benign Het
Sarm1 T C 11: 78,365,743 (GRCm39) M761V probably benign Het
Serpina1a A G 12: 103,822,140 (GRCm39) L264P possibly damaging Het
Slc37a1 G T 17: 31,556,965 (GRCm39) G377V probably damaging Het
Slc38a4 T A 15: 96,906,378 (GRCm39) M364L probably damaging Het
Slc7a15 A G 12: 8,580,280 (GRCm39) F384S probably benign Het
Smyd4 T C 11: 75,281,625 (GRCm39) V366A probably benign Het
Spata31d1b T A 13: 59,866,155 (GRCm39) V1101D possibly damaging Het
Spata31d1e C T 13: 59,890,498 (GRCm39) D441N possibly damaging Het
Stab2 C A 10: 86,757,997 (GRCm39) M1090I probably benign Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tgds A T 14: 118,368,049 (GRCm39) Y41* probably null Het
Tle4 G T 19: 14,495,304 (GRCm39) H142N probably benign Het
Tlx2 T C 6: 83,046,274 (GRCm39) probably null Het
Tmem151a C G 19: 5,131,869 (GRCm39) A446P probably damaging Het
Tmem205 A T 9: 21,832,496 (GRCm39) D138E probably damaging Het
Tmprss9 A G 10: 80,734,042 (GRCm39) K1009E unknown Het
Tnk2 T A 16: 32,498,875 (GRCm39) C729* probably null Het
Trim46 T A 3: 89,142,399 (GRCm39) D696V probably damaging Het
Tuba3b G A 6: 145,564,482 (GRCm39) R84Q probably benign Het
Unc119b C T 5: 115,263,521 (GRCm39) D228N probably damaging Het
Usp17la A G 7: 104,510,864 (GRCm39) T490A probably benign Het
Zfp267 T A 3: 36,219,853 (GRCm39) C625* probably null Het
Zfp687 C T 3: 94,919,768 (GRCm39) M1I probably null Het
Zfp729a T C 13: 67,768,628 (GRCm39) T534A possibly damaging Het
Zfp985 A T 4: 147,668,047 (GRCm39) H305L probably benign Het
Zscan10 C T 17: 23,828,330 (GRCm39) Q291* probably null 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
R4589:Abcc1 UTSW 16 14,211,895 (GRCm39) missense probably benign 0.00
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
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'- TGAAAGACCTAGTGGAATCAGCC -3'
(R):5'- TGGTGCAGTCTCCCTAGAAC -3'

Sequencing Primer
(F):5'- CCTAGTGGAATCAGCCAATTGATAGC -3'
(R):5'- TAGAACCAGAACCAGTCACAGTGG -3'
Posted On 2022-11-14