Incidental Mutation 'R5509:Abcc10'
ID 431106
Institutional Source Beutler Lab
Gene Symbol Abcc10
Ensembl Gene ENSMUSG00000032842
Gene Name ATP-binding cassette, sub-family C member 10
Synonyms Mrp7
MMRRC Submission 043070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5509 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46614146-46638954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 46635185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 273 (Q273E)
Ref Sequence ENSEMBL: ENSMUSP00000131843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]
AlphaFold Q8R4P9
Predicted Effect probably benign
Transcript: ENSMUST00000047970
AA Change: Q273E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: Q273E

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: Q232E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: Q232E

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 benign
Transcript: ENSMUST00000167360
AA Change: Q273E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: Q273E

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
AA Change: Q273E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: Q273E

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: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Bmp8b G A 4: 123,008,369 (GRCm39) D112N possibly damaging Het
Camk2d T C 3: 126,633,965 (GRCm39) W496R probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cflar T C 1: 58,791,551 (GRCm39) F285L probably benign Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or4z4 T A 19: 12,076,341 (GRCm39) I221F possibly damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Rdh12 T A 12: 79,257,558 (GRCm39) probably null Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W probably damaging 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
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'- TACGGACCTCATACCCATACTG -3'
(R):5'- ATGGAGAGAGTTGGCTGTCAC -3'

Sequencing Primer
(F):5'- TACTGATTCTGCAGCACAGC -3'
(R):5'- AGAGTTGGCTGTCACGCTTTTC -3'
Posted On 2016-10-05