Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Abcc10'

654962

Institutional Source

Beutler Lab

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 10

Synonyms

Mrp7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46303221-46328352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46324177 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 300 (G300V)

Ref Sequence

ENSEMBL: ENSMUSP00000038041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047970
AA Change: G300V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: G300V

Domain	Start	End	E-Value	Type
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: G259V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: G259V

Domain	Start	End	E-Value	Type
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: G300V

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: G300V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
AAA	75	242	4.61e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171584
AA Change: G300V

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: G300V

Domain	Start	End	E-Value	Type
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: 99.9%
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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	Het

Other mutations in Abcc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Abcc10	APN	17	46323745	missense	probably damaging	1.00
IGL01115:Abcc10	APN	17	46310426	missense	probably benign
IGL01380:Abcc10	APN	17	46324022	missense	possibly damaging	0.90
IGL01476:Abcc10	APN	17	46327937	utr 5 prime	probably benign
IGL01723:Abcc10	APN	17	46313745	missense	probably damaging	1.00
IGL01867:Abcc10	APN	17	46324438	missense	probably benign	0.07
IGL02065:Abcc10	APN	17	46312901	missense	possibly damaging	0.60
IGL02233:Abcc10	APN	17	46324159	splice site	probably null
IGL03394:Abcc10	APN	17	46324351	missense	probably damaging	1.00
Decrepit	UTSW	17	46324391	missense	probably damaging	1.00
Shrivelled	UTSW	17	46312419	missense	probably benign
PIT4514001:Abcc10	UTSW	17	46305648	missense	probably benign
R0366:Abcc10	UTSW	17	46324798	nonsense	probably null
R0437:Abcc10	UTSW	17	46312919	splice site	probably null
R0437:Abcc10	UTSW	17	46312920	splice site	probably benign
R0549:Abcc10	UTSW	17	46322290	missense	probably damaging	1.00
R0580:Abcc10	UTSW	17	46305956	splice site	probably null
R1056:Abcc10	UTSW	17	46303954	missense	possibly damaging	0.60
R1426:Abcc10	UTSW	17	46324435	missense	probably damaging	0.97
R1595:Abcc10	UTSW	17	46322238	missense	probably damaging	1.00
R1745:Abcc10	UTSW	17	46312433	missense	probably benign
R1856:Abcc10	UTSW	17	46306603	missense	probably damaging	1.00
R1968:Abcc10	UTSW	17	46322199	missense	probably damaging	1.00
R2070:Abcc10	UTSW	17	46303565	missense	probably benign
R2071:Abcc10	UTSW	17	46303565	missense	probably benign
R2255:Abcc10	UTSW	17	46305635	missense	probably benign	0.18
R2425:Abcc10	UTSW	17	46310157	missense	probably damaging	1.00
R4116:Abcc10	UTSW	17	46323891	missense	possibly damaging	0.50
R4510:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4511:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4645:Abcc10	UTSW	17	46324774	missense	probably damaging	1.00
R4689:Abcc10	UTSW	17	46324070	missense	probably benign	0.00
R4778:Abcc10	UTSW	17	46304416	missense	probably damaging	1.00
R5364:Abcc10	UTSW	17	46305651	missense	probably benign	0.25
R5384:Abcc10	UTSW	17	46304435	missense	possibly damaging	0.83
R5509:Abcc10	UTSW	17	46324259	missense	probably benign	0.01
R5568:Abcc10	UTSW	17	46303908	splice site	probably null
R5798:Abcc10	UTSW	17	46306003	nonsense	probably null
R5906:Abcc10	UTSW	17	46316559	missense	probably benign	0.02
R5908:Abcc10	UTSW	17	46313804	missense	probably damaging	1.00
R5942:Abcc10	UTSW	17	46312407	missense	probably benign	0.02
R5968:Abcc10	UTSW	17	46310151	missense	probably benign
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6109:Abcc10	UTSW	17	46310377	missense	probably benign	0.00
R6623:Abcc10	UTSW	17	46323462	missense	probably damaging	1.00
R6851:Abcc10	UTSW	17	46312419	missense	probably benign
R6927:Abcc10	UTSW	17	46324391	missense	probably damaging	1.00
R7176:Abcc10	UTSW	17	46324277	missense	probably benign	0.02
R7314:Abcc10	UTSW	17	46315404	missense	probably damaging	0.98
R7463:Abcc10	UTSW	17	46323772	missense	probably damaging	1.00
R7527:Abcc10	UTSW	17	46312904	missense	possibly damaging	0.58
R7584:Abcc10	UTSW	17	46315378	splice site	probably null
R7862:Abcc10	UTSW	17	46315532	nonsense	probably null
R7883:Abcc10	UTSW	17	46307101	missense	probably benign	0.03
R7896:Abcc10	UTSW	17	46324309	missense	probably benign	0.08
R7897:Abcc10	UTSW	17	46324073	missense	probably benign	0.00
R8316:Abcc10	UTSW	17	46327809	missense	probably damaging	0.99
R8354:Abcc10	UTSW	17	46324177	missense	possibly damaging	0.75
R8414:Abcc10	UTSW	17	46312347	missense	probably benign	0.28
X0020:Abcc10	UTSW	17	46324120	missense	probably damaging	0.98
Z1176:Abcc10	UTSW	17	46313700	missense	probably damaging	0.97
Z1176:Abcc10	UTSW	17	46324262	missense	probably benign	0.00
Z1177:Abcc10	UTSW	17	46307062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGAAGTGTCACTTTACGG -3'
(R):5'- AGAGTTGGCTGTCACGCTTTTC -3'

Sequencing Primer
(F):5'- GAAGTGTCACTTTACGGACCTCATAC -3'
(R):5'- ACCCTTGCTTGCTCGTGGAG -3'

Posted On

2020-10-20