Incidental Mutation 'R9008:Abcc4'
ID 685459
Institutional Source Beutler Lab
Gene Symbol Abcc4
Ensembl Gene ENSMUSG00000032849
Gene Name ATP-binding cassette, sub-family C member 4
Synonyms MOAT-B, MRP4, D630049P08Rik
MMRRC Submission 068838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9008 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 118720104-118943631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118849162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 536 (S536R)
Ref Sequence ENSEMBL: ENSMUSP00000042186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]
AlphaFold E9Q236
Predicted Effect probably damaging
Transcript: ENSMUST00000036554
AA Change: S536R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: S536R

DomainStartEndE-ValueType
Pfam:ABC_membrane 92 365 4.5e-37 PFAM
AAA 437 610 5.71e-12 SMART
Pfam:ABC_membrane 714 993 4.2e-47 PFAM
AAA 1067 1251 2.02e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166646
AA Change: S461R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: S461R

DomainStartEndE-ValueType
Pfam:ABC_membrane 98 290 4.1e-22 PFAM
AAA 362 535 5.71e-12 SMART
Pfam:ABC_membrane 638 922 4.6e-39 PFAM
AAA 992 1176 2.02e-12 SMART
Meta Mutation Damage Score 0.9529 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]
Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,386,815 (GRCm39) silent Het
Acsm1 T C 7: 119,258,325 (GRCm39) Y473H probably benign Het
Adam30 T A 3: 98,070,034 (GRCm39) C622* probably null Het
Adprs C T 4: 126,210,632 (GRCm39) V283M probably damaging Het
AI606181 G T 19: 41,582,032 (GRCm39) R67S unknown Het
Btbd3 A G 2: 138,125,453 (GRCm39) I212M probably benign Het
C1s1 C T 6: 124,509,499 (GRCm39) probably null Het
C7 T A 15: 5,040,409 (GRCm39) T539S Het
Cd5l A C 3: 87,275,972 (GRCm39) D314A probably damaging Het
Celsr3 T A 9: 108,706,151 (GRCm39) V878E possibly damaging Het
Cfap74 T C 4: 155,503,121 (GRCm39) S38P Het
Chst2 C T 9: 95,288,347 (GRCm39) probably benign Het
Deaf1 T C 7: 140,904,078 (GRCm39) T103A probably damaging Het
Deup1 T A 9: 15,511,140 (GRCm39) D213V probably damaging Het
Dhrs1 A G 14: 55,978,638 (GRCm39) probably null Het
Dnah7a A G 1: 53,701,501 (GRCm39) V218A possibly damaging Het
Dock7 G A 4: 98,833,448 (GRCm39) Q1950* probably null Het
Ehf G A 2: 103,097,173 (GRCm39) R283W Het
Elovl3 A T 19: 46,123,087 (GRCm39) N221I possibly damaging Het
Gm11938 A T 11: 99,493,966 (GRCm39) V43E probably damaging Het
Hmcn1 T C 1: 150,630,795 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,096 (GRCm39) N115S probably benign Het
Hnrnpr A T 4: 136,056,737 (GRCm39) N246Y probably damaging Het
Itpka A G 2: 119,579,894 (GRCm39) E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,855,211 (GRCm39) probably benign Het
Lcorl A T 5: 45,931,516 (GRCm39) probably benign Het
Lypd9 T A 11: 58,338,209 (GRCm39) E61V probably benign Het
Mgat5 T C 1: 127,407,308 (GRCm39) I658T probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mov10 A G 3: 104,707,332 (GRCm39) Y606H probably benign Het
Naa38 T G 11: 69,287,148 (GRCm39) V76G probably damaging Het
Nelfe C A 17: 35,073,334 (GRCm39) P290T possibly damaging Het
Nfil3 A T 13: 53,121,609 (GRCm39) Y432N probably damaging Het
Nipbl T C 15: 8,356,608 (GRCm39) K1593E probably damaging Het
Nlrc3 G C 16: 3,776,807 (GRCm39) L56V possibly damaging Het
Nlrp1a A T 11: 71,014,735 (GRCm39) F172I possibly damaging Het
Ntn4 T A 10: 93,569,466 (GRCm39) probably benign Het
Nudt2 G A 4: 41,480,288 (GRCm39) R57Q probably damaging Het
Obsl1 A C 1: 75,482,027 (GRCm39) L281W probably benign Het
Olfm4 A T 14: 80,255,607 (GRCm39) N250I unknown Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2m13 T A 16: 19,226,173 (GRCm39) I198F probably benign Het
Or2r2 T C 6: 42,463,903 (GRCm39) S75G probably damaging Het
Or5p50 A G 7: 107,422,628 (GRCm39) I16T possibly damaging Het
Pappa A T 4: 65,074,426 (GRCm39) T327S probably damaging Het
Pcdhb4 T G 18: 37,440,714 (GRCm39) M8R probably benign Het
Phf21b T A 15: 84,671,563 (GRCm39) I444F probably damaging Het
Pkd1l2 A C 8: 117,769,037 (GRCm39) V1205G probably benign Het
Plec T C 15: 76,060,232 (GRCm39) Y3235C probably damaging Het
Pnmt C T 11: 98,278,832 (GRCm39) T266I possibly damaging Het
Ppfia2 T A 10: 106,655,220 (GRCm39) D262E probably benign Het
Rabggta A T 14: 55,955,913 (GRCm39) L448Q probably damaging Het
Rap1gds1 C T 3: 138,661,177 (GRCm39) R449H probably benign Het
Rictor T A 15: 6,801,610 (GRCm39) probably benign Het
Rttn T C 18: 89,027,556 (GRCm39) F557S probably damaging Het
Ryr3 A G 2: 112,465,748 (GRCm39) C4809R probably damaging Het
Sacs A C 14: 61,441,992 (GRCm39) D1346A probably benign Het
Slain1 T A 14: 103,923,191 (GRCm39) S261T probably damaging Het
Slc22a4 C T 11: 53,881,664 (GRCm39) W351* probably null Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Spag17 C T 3: 99,934,942 (GRCm39) S716F possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spg11 C T 2: 121,900,413 (GRCm39) M1546I probably benign Het
Spmip11 T G 15: 98,486,493 (GRCm39) S88A possibly damaging Het
Stac3 C T 10: 127,339,454 (GRCm39) L117F probably damaging Het
Surf6 A G 2: 26,782,536 (GRCm39) W264R probably damaging Het
Taar7e T C 10: 23,913,810 (GRCm39) V100A probably damaging Het
Tenm3 T C 8: 48,795,688 (GRCm39) H534R probably damaging Het
Tinagl1 C A 4: 130,067,823 (GRCm39) R57L probably damaging Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Traf6 A G 2: 101,527,333 (GRCm39) Y361C possibly damaging Het
Ttn A T 2: 76,777,334 (GRCm39) probably benign Het
Ufl1 A T 4: 25,254,778 (GRCm39) Y559* probably null Het
Upk1b A T 16: 38,607,570 (GRCm39) N52K probably damaging Het
Uqcrb A G 13: 67,053,363 (GRCm39) S5P probably benign Het
Use1 A G 8: 71,819,688 (GRCm39) Y3C unknown Het
Usp9y T A Y: 1,434,993 (GRCm39) I279L possibly damaging Het
Vmn1r142 A G 7: 21,862,796 (GRCm39) L222P probably damaging Het
Vmn1r184 A C 7: 25,967,177 (GRCm39) N308H probably benign Het
Vmn2r14 C A 5: 109,367,893 (GRCm39) M366I probably benign Het
Vmn2r73 G T 7: 85,521,904 (GRCm39) S145Y probably damaging Het
Wdfy1 A T 1: 79,692,697 (GRCm39) W207R probably damaging Het
Zbtb38 A T 9: 96,569,100 (GRCm39) N661K probably benign Het
Zkscan3 G T 13: 21,572,383 (GRCm39) H416Q possibly damaging Het
Other mutations in Abcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Abcc4 APN 14 118,766,409 (GRCm39) missense probably benign 0.03
IGL01152:Abcc4 APN 14 118,836,797 (GRCm39) missense probably damaging 1.00
IGL01511:Abcc4 APN 14 118,836,753 (GRCm39) missense probably benign 0.03
IGL01604:Abcc4 APN 14 118,765,406 (GRCm39) missense possibly damaging 0.94
IGL01725:Abcc4 APN 14 118,738,241 (GRCm39) missense probably damaging 1.00
IGL01828:Abcc4 APN 14 118,790,691 (GRCm39) splice site probably benign
IGL02174:Abcc4 APN 14 118,738,154 (GRCm39) missense probably damaging 0.98
IGL02391:Abcc4 APN 14 118,790,764 (GRCm39) missense probably damaging 1.00
IGL02500:Abcc4 APN 14 118,856,338 (GRCm39) missense possibly damaging 0.47
IGL02598:Abcc4 APN 14 118,905,781 (GRCm39) nonsense probably null
IGL02668:Abcc4 APN 14 118,848,887 (GRCm39) missense probably damaging 1.00
IGL02708:Abcc4 APN 14 118,738,213 (GRCm39) missense probably damaging 1.00
IGL02859:Abcc4 APN 14 118,753,912 (GRCm39) missense probably damaging 1.00
IGL03249:Abcc4 APN 14 118,865,118 (GRCm39) splice site probably benign
IGL03257:Abcc4 APN 14 118,852,623 (GRCm39) missense probably benign 0.01
IGL03298:Abcc4 APN 14 118,848,880 (GRCm39) missense probably damaging 1.00
1mM(1):Abcc4 UTSW 14 118,867,068 (GRCm39) nonsense probably null
R0743:Abcc4 UTSW 14 118,790,700 (GRCm39) missense possibly damaging 0.90
R0884:Abcc4 UTSW 14 118,790,700 (GRCm39) missense possibly damaging 0.90
R1139:Abcc4 UTSW 14 118,738,252 (GRCm39) missense possibly damaging 0.56
R1238:Abcc4 UTSW 14 118,835,051 (GRCm39) splice site probably benign
R1588:Abcc4 UTSW 14 118,771,484 (GRCm39) missense probably benign 0.01
R1678:Abcc4 UTSW 14 118,832,306 (GRCm39) missense probably benign 0.08
R1785:Abcc4 UTSW 14 118,790,761 (GRCm39) missense probably damaging 0.99
R1786:Abcc4 UTSW 14 118,790,761 (GRCm39) missense probably damaging 0.99
R1961:Abcc4 UTSW 14 118,848,871 (GRCm39) missense possibly damaging 0.92
R1961:Abcc4 UTSW 14 118,848,868 (GRCm39) missense probably damaging 0.98
R1993:Abcc4 UTSW 14 118,763,694 (GRCm39) missense probably benign 0.02
R2025:Abcc4 UTSW 14 118,790,737 (GRCm39) missense probably benign 0.13
R3613:Abcc4 UTSW 14 118,864,863 (GRCm39) critical splice donor site probably null
R3864:Abcc4 UTSW 14 118,853,827 (GRCm39) missense probably benign
R4274:Abcc4 UTSW 14 118,867,034 (GRCm39) missense probably damaging 1.00
R4459:Abcc4 UTSW 14 118,836,805 (GRCm39) missense probably benign 0.11
R4601:Abcc4 UTSW 14 118,869,575 (GRCm39) missense probably benign 0.00
R4665:Abcc4 UTSW 14 118,766,414 (GRCm39) missense probably benign
R4678:Abcc4 UTSW 14 118,865,103 (GRCm39) missense probably damaging 0.97
R4771:Abcc4 UTSW 14 118,721,796 (GRCm39) missense probably benign 0.00
R4962:Abcc4 UTSW 14 118,905,811 (GRCm39) missense probably benign 0.33
R4997:Abcc4 UTSW 14 118,753,915 (GRCm39) nonsense probably null
R5273:Abcc4 UTSW 14 118,832,233 (GRCm39) missense possibly damaging 0.76
R5526:Abcc4 UTSW 14 118,868,449 (GRCm39) missense probably benign 0.10
R5652:Abcc4 UTSW 14 118,856,339 (GRCm39) missense probably benign 0.00
R5820:Abcc4 UTSW 14 118,841,607 (GRCm39) missense probably benign 0.14
R5873:Abcc4 UTSW 14 118,763,702 (GRCm39) missense probably benign 0.00
R6008:Abcc4 UTSW 14 118,727,978 (GRCm39) missense possibly damaging 0.63
R6080:Abcc4 UTSW 14 118,906,462 (GRCm39) missense possibly damaging 0.75
R6222:Abcc4 UTSW 14 118,767,368 (GRCm39) missense probably damaging 1.00
R6919:Abcc4 UTSW 14 118,832,306 (GRCm39) missense probably benign 0.08
R6931:Abcc4 UTSW 14 118,765,400 (GRCm39) missense probably damaging 0.99
R7013:Abcc4 UTSW 14 118,763,755 (GRCm39) missense probably benign
R7055:Abcc4 UTSW 14 118,832,197 (GRCm39) nonsense probably null
R7146:Abcc4 UTSW 14 118,852,593 (GRCm39) missense probably damaging 1.00
R7365:Abcc4 UTSW 14 118,865,066 (GRCm39) missense probably damaging 1.00
R7402:Abcc4 UTSW 14 118,943,487 (GRCm39) missense probably damaging 1.00
R7438:Abcc4 UTSW 14 118,853,858 (GRCm39) missense probably benign 0.01
R7528:Abcc4 UTSW 14 118,767,317 (GRCm39) missense probably damaging 0.99
R7674:Abcc4 UTSW 14 118,848,899 (GRCm39) missense probably damaging 1.00
R7769:Abcc4 UTSW 14 118,852,682 (GRCm39) frame shift probably null
R7823:Abcc4 UTSW 14 118,771,484 (GRCm39) missense probably benign 0.01
R7847:Abcc4 UTSW 14 118,864,892 (GRCm39) missense probably damaging 1.00
R7989:Abcc4 UTSW 14 118,836,772 (GRCm39) missense probably benign 0.05
R8044:Abcc4 UTSW 14 118,852,682 (GRCm39) frame shift probably null
R8214:Abcc4 UTSW 14 118,738,253 (GRCm39) missense probably benign 0.35
R8264:Abcc4 UTSW 14 118,832,254 (GRCm39) missense possibly damaging 0.81
R8309:Abcc4 UTSW 14 118,853,804 (GRCm39) missense probably damaging 1.00
R8369:Abcc4 UTSW 14 118,864,869 (GRCm39) missense probably benign 0.02
R8701:Abcc4 UTSW 14 118,836,785 (GRCm39) missense probably benign
R8942:Abcc4 UTSW 14 118,790,732 (GRCm39) missense probably damaging 1.00
R8994:Abcc4 UTSW 14 118,771,556 (GRCm39) critical splice acceptor site probably null
R9100:Abcc4 UTSW 14 118,853,800 (GRCm39) missense possibly damaging 0.65
R9119:Abcc4 UTSW 14 118,868,442 (GRCm39) missense probably benign 0.16
R9267:Abcc4 UTSW 14 118,869,657 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ATCCAGGCTCATGGCAACTG -3'
(R):5'- GGTCATTGCTTAGCACACAC -3'

Sequencing Primer
(F):5'- CAACTGGGTGTTCATTTGAAGTATCC -3'
(R):5'- AATGCAATGCCCTGAGTGC -3'
Posted On 2021-10-11