Incidental Mutation 'R7176:Abcc10'
ID 558649
Institutional Source Beutler Lab
Gene Symbol Abcc10
Ensembl Gene ENSMUSG00000032842
Gene Name ATP-binding cassette, sub-family C member 10
Synonyms Mrp7
MMRRC Submission 045267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46614146-46638954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46635203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 267 (H267N)
Ref Sequence ENSEMBL: ENSMUSP00000038041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]
AlphaFold Q8R4P9
Predicted Effect probably benign
Transcript: ENSMUST00000047970
AA Change: H267N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: H267N

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 probably benign
Transcript: ENSMUST00000095261
AA Change: H226N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: H226N

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 probably benign
Transcript: ENSMUST00000167360
AA Change: H267N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: H267N

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 probably benign
Transcript: ENSMUST00000171584
AA Change: H267N

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: H267N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Aqp3 T A 4: 41,095,202 (GRCm39) N60Y probably damaging Het
Art4 T G 6: 136,834,166 (GRCm39) T26P probably benign Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Asxl1 T A 2: 153,243,908 (GRCm39) I1487N probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Myh11 T A 16: 14,033,690 (GRCm39) H1068L Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null 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
R1595:Abcc10 UTSW 17 46,633,164 (GRCm39) missense probably damaging 1.00
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
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'- CTGATTCTGCAGCACAGCAC -3'
(R):5'- TCCTCTGAGAGTCAAGAAACAG -3'

Sequencing Primer
(F):5'- GATTCTGCAGCACAGCACTTATC -3'
(R):5'- CTCTGAGAGTCAAGAAACAGAGGTAG -3'
Posted On 2019-06-26