Incidental Mutation 'R1056:Abcc10'
ID 94409
Institutional Source Beutler Lab
Gene Symbol Abcc10
Ensembl Gene ENSMUSG00000032842
Gene Name ATP-binding cassette, sub-family C member 10
Synonyms Mrp7
MMRRC Submission 039146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1056 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46614146-46638954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46614880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 1459 (C1459W)
Ref Sequence ENSEMBL: ENSMUSP00000038041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000061722] [ENSMUST00000095261] [ENSMUST00000166280] [ENSMUST00000166617] [ENSMUST00000167360] [ENSMUST00000170271] [ENSMUST00000171584] [ENSMUST00000188223]
AlphaFold Q8R4P9
Predicted Effect possibly damaging
Transcript: ENSMUST00000047970
AA Change: C1459W

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: C1459W

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: ENSMUST00000061722
SMART Domains Protein: ENSMUSP00000058470
Gene: ENSMUSG00000047428

DomainStartEndE-ValueType
EGF_like 71 101 3.16e1 SMART
EGF 102 132 7.76e-3 SMART
EGF 137 172 2.14e-5 SMART
EGF 177 215 3.79e-6 SMART
EGF_CA 217 253 3.1e-11 SMART
EGF_CA 255 291 9.47e-7 SMART
transmembrane domain 349 371 N/A INTRINSIC
low complexity region 383 394 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095261
AA Change: C1393W

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: C1393W

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: ENSMUST00000166280
SMART Domains Protein: ENSMUSP00000126993
Gene: ENSMUSG00000047428

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EGF_like 28 58 3.16e1 SMART
EGF 59 89 7.76e-3 SMART
EGF 94 129 2.14e-5 SMART
EGF 134 172 3.79e-6 SMART
EGF_CA 174 210 3.1e-11 SMART
EGF_CA 212 248 9.47e-7 SMART
transmembrane domain 306 328 N/A INTRINSIC
low complexity region 340 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166617
SMART Domains Protein: ENSMUSP00000128897
Gene: ENSMUSG00000047428

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EGF_like 28 58 3.16e1 SMART
EGF 59 89 7.76e-3 SMART
EGF 94 129 2.14e-5 SMART
EGF 134 172 3.79e-6 SMART
EGF_CA 174 210 3.1e-11 SMART
EGF_CA 212 248 9.47e-7 SMART
transmembrane domain 306 328 N/A INTRINSIC
low complexity region 340 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167360
AA Change: C1434W

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: C1434W

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: ENSMUST00000170271
SMART Domains Protein: ENSMUSP00000132349
Gene: ENSMUSG00000047428

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EGF_like 28 58 3.16e1 SMART
EGF 59 89 7.76e-3 SMART
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
Predicted Effect probably benign
Transcript: ENSMUST00000188223
SMART Domains Protein: ENSMUSP00000141164
Gene: ENSMUSG00000047428

DomainStartEndE-ValueType
Pfam:hEGF 88 100 7.9e-4 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,924,295 (GRCm39) Y1649C probably damaging Het
Amfr A T 8: 94,712,097 (GRCm39) F278I probably benign Het
Anks1b G T 10: 90,757,291 (GRCm39) probably null Het
Bak1 A G 17: 27,240,247 (GRCm39) S147P possibly damaging Het
Bltp1 C A 3: 37,037,602 (GRCm39) H2469N possibly damaging Het
Bltp1 T A 3: 37,098,829 (GRCm39) M1152K probably benign Het
C7 T C 15: 5,075,260 (GRCm39) N144S possibly damaging Het
Casd1 T C 6: 4,641,967 (GRCm39) V748A probably benign Het
Ccdc168 C T 1: 44,100,087 (GRCm39) G337D probably damaging Het
Ccdc180 T C 4: 45,916,375 (GRCm39) S859P probably benign Het
Ccne2 T C 4: 11,192,707 (GRCm39) S2P probably damaging Het
Cdc42bpg T A 19: 6,364,051 (GRCm39) I541N probably benign Het
Cgnl1 T A 9: 71,633,177 (GRCm39) N58I probably damaging Het
Chd7 T C 4: 8,822,402 (GRCm39) S832P possibly damaging Het
Chl1 A T 6: 103,652,038 (GRCm39) Y318F possibly damaging Het
Coq2 G T 5: 100,805,813 (GRCm39) N274K probably benign Het
Crhr2 A T 6: 55,077,720 (GRCm39) V214E probably damaging Het
Dgkg G C 16: 22,419,291 (GRCm39) P70A probably damaging Het
Dync2h1 T C 9: 7,147,731 (GRCm39) I966M probably benign Het
Eif5b C G 1: 38,061,248 (GRCm39) R380G unknown Het
Fat4 T A 3: 38,945,541 (GRCm39) I1478N probably damaging Het
Impact A T 18: 13,109,581 (GRCm39) I92L probably benign Het
Ly6c2 A G 15: 74,983,445 (GRCm39) probably null Het
Lypd6b G A 2: 49,837,468 (GRCm39) V147I possibly damaging Het
Mdga2 T C 12: 66,769,894 (GRCm39) D192G probably damaging Het
Mms22l T C 4: 24,586,344 (GRCm39) probably null Het
Myo9a C T 9: 59,739,484 (GRCm39) T732I possibly damaging Het
Myrf C T 19: 10,200,850 (GRCm39) M274I probably benign Het
Nfx1 G A 4: 41,003,057 (GRCm39) R686Q probably damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oog4 T C 4: 143,164,581 (GRCm39) T245A possibly damaging Het
Or1a1b C T 11: 74,097,608 (GRCm39) V145I probably benign Het
Or52e3 A T 7: 102,869,625 (GRCm39) E233D probably benign Het
Pclo A T 5: 14,590,069 (GRCm39) K790* probably null Het
Pcm1 A G 8: 41,774,937 (GRCm39) E1668G probably damaging Het
Pkhd1l1 T A 15: 44,455,360 (GRCm39) N4040K probably damaging Het
Podnl1 T A 8: 84,855,905 (GRCm39) S222T probably benign Het
Ppil4 A G 10: 7,675,396 (GRCm39) T182A possibly damaging Het
Prdm13 T C 4: 21,678,544 (GRCm39) K649E probably damaging Het
Prob1 A T 18: 35,786,663 (GRCm39) H530Q probably benign Het
Rbbp4 A T 4: 129,211,442 (GRCm39) M404K probably damaging Het
Rilpl1 A T 5: 124,631,900 (GRCm39) F149I probably damaging Het
Sema6c T A 3: 95,078,527 (GRCm39) S543T probably benign Het
Sh3rf3 G T 10: 58,842,904 (GRCm39) W290L probably damaging Het
Slc2a12 T G 10: 22,541,350 (GRCm39) S402A probably benign Het
Tas2r131 T A 6: 132,934,030 (GRCm39) I260F possibly damaging Het
Tasp1 A G 2: 139,850,684 (GRCm39) I113T possibly damaging Het
Tnrc18 G A 5: 142,759,614 (GRCm39) R741* probably null Het
Ube2o G T 11: 116,437,290 (GRCm39) D244E probably damaging Het
Vmn1r206 A T 13: 22,804,784 (GRCm39) M141K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp747 A G 7: 126,973,760 (GRCm39) S137P probably benign Het
Zfp951 A T 5: 104,963,151 (GRCm39) H138Q possibly 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
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
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'- CACCAGCACACGGTCAGAGTTTAG -3'
(R):5'- GCAATGCAGTGCTCTGCTTACAG -3'

Sequencing Primer
(F):5'- AGAGAAAGCTGATCTCATCTTCTTCC -3'
(R):5'- ATCTTGTGCATTGACGAGGC -3'
Posted On 2014-01-05