Incidental Mutation 'R1595:Abcc10'
ID 175767
Institutional Source Beutler Lab
Gene Symbol Abcc10
Ensembl Gene ENSMUSG00000032842
Gene Name ATP-binding cassette, sub-family C member 10
Synonyms Mrp7
MMRRC Submission 039632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1595 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46614146-46638954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46633164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 556 (P556H)
Ref Sequence ENSEMBL: ENSMUSP00000131843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]
AlphaFold Q8R4P9
Predicted Effect probably damaging
Transcript: ENSMUST00000047970
AA Change: P556H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: P556H

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 70 89 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
transmembrane domain 134 153 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:ABC_membrane 286 552 5.4e-24 PFAM
AAA 626 809 5.76e-8 SMART
low complexity region 841 852 N/A INTRINSIC
Pfam:ABC_membrane 889 1203 1.7e-33 PFAM
low complexity region 1231 1245 N/A INTRINSIC
AAA 1281 1490 3.57e-13 SMART
low complexity region 1506 1517 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095261
AA Change: P515H

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: P515H

DomainStartEndE-ValueType
transmembrane domain 29 48 N/A INTRINSIC
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 93 112 N/A INTRINSIC
transmembrane domain 127 149 N/A INTRINSIC
Pfam:ABC_membrane 245 511 2.1e-30 PFAM
AAA 585 768 5.76e-8 SMART
low complexity region 800 811 N/A INTRINSIC
transmembrane domain 836 858 N/A INTRINSIC
Pfam:ABC_membrane 896 1162 6.9e-26 PFAM
low complexity region 1190 1204 N/A INTRINSIC
AAA 1240 1424 1.67e-13 SMART
low complexity region 1440 1451 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165733
Predicted Effect probably damaging
Transcript: ENSMUST00000167360
AA Change: P556H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: P556H

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 70 89 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
transmembrane domain 134 153 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:ABC_membrane 286 552 2.2e-30 PFAM
AAA 626 809 5.76e-8 SMART
low complexity region 841 852 N/A INTRINSIC
transmembrane domain 877 899 N/A INTRINSIC
Pfam:ABC_membrane 937 1203 7.2e-26 PFAM
low complexity region 1231 1245 N/A INTRINSIC
AAA 1281 1465 1.67e-13 SMART
low complexity region 1481 1492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168490
SMART Domains Protein: ENSMUSP00000132760
Gene: ENSMUSG00000032842

DomainStartEndE-ValueType
AAA 75 242 4.61e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170168
Predicted Effect probably benign
Transcript: ENSMUST00000171584
SMART Domains Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 70 89 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
transmembrane domain 134 153 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:ABC_membrane 286 462 8.3e-18 PFAM
Meta Mutation Damage Score 0.9059 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 97% (77/79)
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, and White). This ABC transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C T 1: 75,153,944 (GRCm39) probably null Het
Abcc9 A T 6: 142,578,821 (GRCm39) D914E probably benign Het
Adgrf4 A G 17: 42,978,764 (GRCm39) V193A probably benign Het
Adm A T 7: 110,228,298 (GRCm39) T160S probably damaging Het
Ammecr1l T C 18: 31,905,173 (GRCm39) probably null Het
Angpt2 T C 8: 18,748,129 (GRCm39) D377G probably damaging Het
Ankfn1 A G 11: 89,313,593 (GRCm39) probably null Het
Arhgap30 T G 1: 171,235,909 (GRCm39) M761R probably benign Het
Asb4 T G 6: 5,390,692 (GRCm39) N28K probably damaging Het
Cd177 A T 7: 24,444,389 (GRCm39) D696E probably benign Het
Cd200 G A 16: 45,215,214 (GRCm39) T123I probably benign Het
Cfap70 A G 14: 20,497,604 (GRCm39) V50A probably benign Het
Chaf1b T C 16: 93,701,987 (GRCm39) probably null Het
Chgb A C 2: 132,635,657 (GRCm39) D533A probably benign Het
Col12a1 A G 9: 79,509,536 (GRCm39) Y3041H probably damaging Het
Crot T C 5: 9,024,186 (GRCm39) N337D probably benign Het
Csad G A 15: 102,086,217 (GRCm39) A51V probably damaging Het
Cstdc7 T C 18: 42,306,454 (GRCm39) M7T probably benign Het
Cyp2b9 A G 7: 25,900,332 (GRCm39) Y380C possibly damaging Het
Dpysl2 G T 14: 67,052,952 (GRCm39) A299E probably damaging Het
Efcc1 A G 6: 87,708,440 (GRCm39) E189G probably damaging Het
Egfr T C 11: 16,856,847 (GRCm39) I940T probably damaging Het
Etnk2 T G 1: 133,300,917 (GRCm39) L228R possibly damaging Het
Fitm2 A G 2: 163,311,610 (GRCm39) I201T probably benign Het
Foxo1 A T 3: 52,253,375 (GRCm39) M513L probably benign Het
Galnt16 A T 12: 80,637,410 (GRCm39) K379I probably damaging Het
Gm57858 C T 3: 36,073,146 (GRCm39) A379T probably damaging Het
Gtf2a1 T A 12: 91,556,323 (GRCm39) N6Y probably damaging Het
Kcnc1 G A 7: 46,077,010 (GRCm39) V271M probably benign Het
Klhdc8b T A 9: 108,328,362 (GRCm39) D30V probably damaging Het
Lrrc7 G A 3: 157,882,914 (GRCm39) Q448* probably null Het
Med29 T C 7: 28,091,928 (GRCm39) D54G probably damaging Het
Mfn2 T C 4: 147,979,153 (GRCm39) T60A probably benign Het
Mroh1 T C 15: 76,317,730 (GRCm39) probably benign Het
Mxd1 A T 6: 86,628,453 (GRCm39) V149E possibly damaging Het
Naip6 A T 13: 100,435,602 (GRCm39) Y974N probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nhsl1 G T 10: 18,402,096 (GRCm39) K1107N probably damaging Het
Nlrc3 T C 16: 3,783,166 (GRCm39) E81G probably benign Het
Or10al3 G T 17: 38,012,004 (GRCm39) A148S probably benign Het
Or9e1 G T 11: 58,732,478 (GRCm39) M179I probably benign Het
Osbpl5 C T 7: 143,256,955 (GRCm39) V392M possibly damaging Het
Pcdhb22 T A 18: 37,653,506 (GRCm39) V401E probably damaging Het
Pcm1 T A 8: 41,762,672 (GRCm39) H1444Q probably damaging Het
Pdlim2 A G 14: 70,402,193 (GRCm39) Y308H probably damaging Het
Phf14 T G 6: 11,988,752 (GRCm39) L664R possibly damaging Het
Phkb T C 8: 86,753,182 (GRCm39) probably benign Het
Ptchd3 T A 11: 121,721,420 (GRCm39) F98I probably damaging Het
Ptprt C T 2: 161,652,469 (GRCm39) probably null Het
Rbp3 A T 14: 33,678,155 (GRCm39) H701L possibly damaging Het
Rgl1 T C 1: 152,550,774 (GRCm39) probably benign Het
Satb1 A T 17: 52,089,729 (GRCm39) S373T possibly damaging Het
Scn3a T A 2: 65,329,323 (GRCm39) Y769F probably damaging Het
Senp7 A G 16: 56,005,131 (GRCm39) I922V probably damaging Het
Serpina3g A G 12: 104,205,531 (GRCm39) E90G probably benign Het
Sh3rf2 C T 18: 42,244,353 (GRCm39) T273I probably damaging Het
Slc15a3 A G 19: 10,831,675 (GRCm39) T350A probably benign Het
Socs5 T C 17: 87,441,623 (GRCm39) C188R probably damaging Het
Tacr1 A G 6: 82,380,723 (GRCm39) T45A probably benign Het
Th A G 7: 142,450,745 (GRCm39) V117A probably benign Het
Thpo C A 16: 20,547,206 (GRCm39) D81Y probably damaging Het
Tmem229b-ps A G 10: 53,351,385 (GRCm39) noncoding transcript Het
Trpc4 A G 3: 54,223,236 (GRCm39) E724G probably benign Het
Ttn T C 2: 76,576,977 (GRCm39) T24639A probably damaging Het
Ulk4 A G 9: 120,873,904 (GRCm39) S1176P probably damaging Het
Urgcp T C 11: 5,667,447 (GRCm39) D297G probably damaging Het
Vmn1r168 G A 7: 23,240,620 (GRCm39) G159D probably damaging Het
Vmn1r67 A T 7: 10,181,597 (GRCm39) N226I probably benign Het
Vmn2r27 T C 6: 124,208,574 (GRCm39) E57G probably benign Het
Zdhhc14 G T 17: 5,543,831 (GRCm39) R37L probably benign Het
Zfp512b G A 2: 181,230,229 (GRCm39) T499I probably damaging Het
Zmym2 A T 14: 57,158,187 (GRCm39) K575N probably benign Het
Other mutations in Abcc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Abcc10 APN 17 46,634,671 (GRCm39) missense probably damaging 1.00
IGL01115:Abcc10 APN 17 46,621,352 (GRCm39) missense probably benign
IGL01380:Abcc10 APN 17 46,634,948 (GRCm39) missense possibly damaging 0.90
IGL01476:Abcc10 APN 17 46,638,863 (GRCm39) utr 5 prime probably benign
IGL01723:Abcc10 APN 17 46,624,671 (GRCm39) missense probably damaging 1.00
IGL01867:Abcc10 APN 17 46,635,364 (GRCm39) missense probably benign 0.07
IGL02065:Abcc10 APN 17 46,623,827 (GRCm39) missense possibly damaging 0.60
IGL02233:Abcc10 APN 17 46,635,085 (GRCm39) splice site probably null
IGL03394:Abcc10 APN 17 46,635,277 (GRCm39) missense probably damaging 1.00
Decrepit UTSW 17 46,635,317 (GRCm39) missense probably damaging 1.00
Shrivelled UTSW 17 46,623,345 (GRCm39) missense probably benign
PIT4514001:Abcc10 UTSW 17 46,616,574 (GRCm39) missense probably benign
R0366:Abcc10 UTSW 17 46,635,724 (GRCm39) nonsense probably null
R0437:Abcc10 UTSW 17 46,623,846 (GRCm39) splice site probably benign
R0437:Abcc10 UTSW 17 46,623,845 (GRCm39) splice site probably null
R0549:Abcc10 UTSW 17 46,633,216 (GRCm39) missense probably damaging 1.00
R0580:Abcc10 UTSW 17 46,616,882 (GRCm39) splice site probably null
R1056:Abcc10 UTSW 17 46,614,880 (GRCm39) missense possibly damaging 0.60
R1426:Abcc10 UTSW 17 46,635,361 (GRCm39) missense probably damaging 0.97
R1745:Abcc10 UTSW 17 46,623,359 (GRCm39) missense probably benign
R1856:Abcc10 UTSW 17 46,617,529 (GRCm39) missense probably damaging 1.00
R1968:Abcc10 UTSW 17 46,633,125 (GRCm39) missense probably damaging 1.00
R2070:Abcc10 UTSW 17 46,614,491 (GRCm39) missense probably benign
R2071:Abcc10 UTSW 17 46,614,491 (GRCm39) missense probably benign
R2255:Abcc10 UTSW 17 46,616,561 (GRCm39) missense probably benign 0.18
R2425:Abcc10 UTSW 17 46,621,083 (GRCm39) missense probably damaging 1.00
R4116:Abcc10 UTSW 17 46,634,817 (GRCm39) missense possibly damaging 0.50
R4510:Abcc10 UTSW 17 46,618,136 (GRCm39) missense probably damaging 0.98
R4511:Abcc10 UTSW 17 46,618,136 (GRCm39) missense probably damaging 0.98
R4645:Abcc10 UTSW 17 46,635,700 (GRCm39) missense probably damaging 1.00
R4689:Abcc10 UTSW 17 46,634,996 (GRCm39) missense probably benign 0.00
R4778:Abcc10 UTSW 17 46,615,342 (GRCm39) missense probably damaging 1.00
R5364:Abcc10 UTSW 17 46,616,577 (GRCm39) missense probably benign 0.25
R5384:Abcc10 UTSW 17 46,615,361 (GRCm39) missense possibly damaging 0.83
R5509:Abcc10 UTSW 17 46,635,185 (GRCm39) missense probably benign 0.01
R5568:Abcc10 UTSW 17 46,614,834 (GRCm39) splice site probably null
R5798:Abcc10 UTSW 17 46,616,929 (GRCm39) nonsense probably null
R5906:Abcc10 UTSW 17 46,627,485 (GRCm39) missense probably benign 0.02
R5908:Abcc10 UTSW 17 46,624,730 (GRCm39) missense probably damaging 1.00
R5942:Abcc10 UTSW 17 46,623,333 (GRCm39) missense probably benign 0.02
R5968:Abcc10 UTSW 17 46,621,077 (GRCm39) missense probably benign
R6038:Abcc10 UTSW 17 46,615,286 (GRCm39) missense probably damaging 1.00
R6038:Abcc10 UTSW 17 46,615,286 (GRCm39) missense probably damaging 1.00
R6109:Abcc10 UTSW 17 46,621,303 (GRCm39) missense probably benign 0.00
R6623:Abcc10 UTSW 17 46,634,388 (GRCm39) missense probably damaging 1.00
R6851:Abcc10 UTSW 17 46,623,345 (GRCm39) missense probably benign
R6927:Abcc10 UTSW 17 46,635,317 (GRCm39) missense probably damaging 1.00
R7176:Abcc10 UTSW 17 46,635,203 (GRCm39) missense probably benign 0.02
R7314:Abcc10 UTSW 17 46,626,330 (GRCm39) missense probably damaging 0.98
R7463:Abcc10 UTSW 17 46,634,698 (GRCm39) missense probably damaging 1.00
R7527:Abcc10 UTSW 17 46,623,830 (GRCm39) missense possibly damaging 0.58
R7584:Abcc10 UTSW 17 46,626,304 (GRCm39) splice site probably null
R7862:Abcc10 UTSW 17 46,626,458 (GRCm39) nonsense probably null
R7883:Abcc10 UTSW 17 46,618,027 (GRCm39) missense probably benign 0.03
R7896:Abcc10 UTSW 17 46,635,235 (GRCm39) missense probably benign 0.08
R7897:Abcc10 UTSW 17 46,634,999 (GRCm39) missense probably benign 0.00
R8316:Abcc10 UTSW 17 46,638,735 (GRCm39) missense probably damaging 0.99
R8354:Abcc10 UTSW 17 46,635,103 (GRCm39) missense possibly damaging 0.75
R8414:Abcc10 UTSW 17 46,623,273 (GRCm39) missense probably benign 0.28
R8454:Abcc10 UTSW 17 46,635,103 (GRCm39) missense possibly damaging 0.75
R8977:Abcc10 UTSW 17 46,624,593 (GRCm39) missense probably benign 0.19
R9432:Abcc10 UTSW 17 46,634,710 (GRCm39) missense possibly damaging 0.72
R9473:Abcc10 UTSW 17 46,617,609 (GRCm39) missense probably benign 0.10
R9790:Abcc10 UTSW 17 46,633,185 (GRCm39) missense probably damaging 1.00
R9791:Abcc10 UTSW 17 46,633,185 (GRCm39) missense probably damaging 1.00
X0020:Abcc10 UTSW 17 46,635,046 (GRCm39) missense probably damaging 0.98
Z1176:Abcc10 UTSW 17 46,635,188 (GRCm39) missense probably benign 0.00
Z1176:Abcc10 UTSW 17 46,624,626 (GRCm39) missense probably damaging 0.97
Z1177:Abcc10 UTSW 17 46,617,988 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATGCATAGCGTCCAACAGG -3'
(R):5'- CATTTCTAACCCAGGGCAGTCCAG -3'

Sequencing Primer
(F):5'- ccacatgggaaggctcac -3'
(R):5'- CAGGGCAGTCCAGTCAAC -3'
Posted On 2014-04-24