Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Abcc2'

346532

Institutional Source

Beutler Lab

Gene Symbol

Abcc2

Ensembl Gene

ENSMUSG00000025194

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 2

Synonyms

multidrug resistance protein 2, Cmoat, Mrp2

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43782192-43840740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43803739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 320 (I320V)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026208]

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: I320V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: I320V

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	100	116	N/A	INTRINSIC
transmembrane domain	128	150	N/A	INTRINSIC
transmembrane domain	160	182	N/A	INTRINSIC
Pfam:ABC_membrane	319	591	3.4e-37	PFAM
low complexity region	597	608	N/A	INTRINSIC
AAA	661	836	1.77e-8	SMART
low complexity region	906	933	N/A	INTRINSIC
Pfam:ABC_membrane	977	1249	5.4e-48	PFAM
AAA	1324	1509	1.33e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129943

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: The membrane-associated 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, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the canalicular surface of the hepatocyte and in biliary transport, and appears to contribute to drug resistance in mammalian cells. Several different mutations in the human gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. Alternative splice variants have been observed for this gene; however, they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 145,044,883	E176A	possibly damaging	Het
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
4933417A18Rik	G	A	13: 34,932,465	G66S	probably damaging	Het
5830473C10Rik	G	T	5: 90,571,752	V236L	probably damaging	Het
Abtb1	C	T	6: 88,836,287	A466T	probably benign	Het
Ak6	C	A	13: 100,655,673	T208K	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Anapc15	T	A	7: 101,901,032		probably benign	Het
Aspn	A	G	13: 49,557,425	D182G	probably benign	Het
Astn1	A	T	1: 158,580,294	D607V	probably damaging	Het
Btnl1	A	G	17: 34,379,751	I114V	probably null	Het
Ccdc159	A	G	9: 21,929,466	S110G	probably benign	Het
Ccdc94	T	A	17: 55,964,598	L173Q	probably damaging	Het
Cdh18	A	C	15: 22,714,042		probably benign	Het
Cdh22	A	G	2: 165,112,606	I665T	probably damaging	Het
Cenpk	T	A	13: 104,249,393	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,969,492	L1397P	probably damaging	Het
Chia1	A	C	3: 106,128,940	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,915,585	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,404,120	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,463,661	S2244P	probably damaging	Het
Fshr	T	C	17: 88,985,720	Y510C	probably damaging	Het
Gm21188	G	T	13: 120,035,229	R35S	possibly damaging	Het
Gm5087	T	C	14: 13,158,798		noncoding transcript	Het
Gm7135	A	C	1: 97,459,626		noncoding transcript	Het
Hnrnpll	A	T	17: 80,050,862	Y153*	probably null	Het
Htt	T	A	5: 34,829,785	V1116E	probably damaging	Het
Ikzf5	A	T	7: 131,393,753		probably null	Het
Kcnb1	A	G	2: 167,188,233	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Kif1a	A	T	1: 93,042,659	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370	V247A	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lamc1	A	G	1: 153,242,696	S910P	probably benign	Het
Lin9	T	A	1: 180,689,280	N512K	probably damaging	Het
Mettl7a1	A	T	15: 100,313,058	Q170L	probably damaging	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,386,714	V174A	probably benign	Het
Myo1g	T	C	11: 6,512,240	E574G	probably damaging	Het
Nphp3	G	A	9: 104,036,159	G997R	possibly damaging	Het
Obscn	A	G	11: 59,067,258	C3748R	probably damaging	Het
Olfr346	A	G	2: 36,688,071	D23G	probably benign	Het
Olfr466	T	A	13: 65,152,860	V212D	possibly damaging	Het
Olfr494	T	C	7: 108,367,688	L66P	probably damaging	Het
Olfr945	A	T	9: 39,258,318	M118K	probably damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Ptch1	T	C	13: 63,523,164	T851A	probably benign	Het
Ranbp6	A	T	19: 29,810,863	Y696*	probably null	Het
Rbp3	A	G	14: 33,956,099	Q668R	probably benign	Het
Rfwd3	T	C	8: 111,276,358	T611A	probably benign	Het
Rhcg	T	A	7: 79,601,604	D219V	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Slc25a26	G	T	6: 94,507,652	V58F	probably damaging	Het
Smarca5	T	A	8: 80,710,563	K721N	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Speer2	A	T	16: 69,858,754	Y61*	probably null	Het
Spef2	T	C	15: 9,647,438	Y961C	probably damaging	Het
Sptb	C	A	12: 76,587,326		probably null	Het
Svep1	T	G	4: 58,072,698	N2204H	probably damaging	Het
Tmem86a	C	A	7: 47,052,865	P13T	probably damaging	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Tox2	G	A	2: 163,314,416	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,962	E762D	probably benign	Het
Tshb	C	T	3: 102,778,145		probably null	Het
Ttc3	T	A	16: 94,388,272	L163*	probably null	Het
Twsg1	G	T	17: 65,929,551	D161E	probably benign	Het
Uchl4	A	C	9: 64,235,798	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,048,181	W9R	probably benign	Het
Zfp14	G	A	7: 30,038,595	Q322*	probably null	Het
Znhit3	G	A	11: 84,911,490	P145S	probably damaging	Het

Other mutations in Abcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Abcc2	APN	19	43784202	missense	probably benign	0.39
IGL01611:Abcc2	APN	19	43826629	missense	probably damaging	1.00
IGL01800:Abcc2	APN	19	43784295	missense	possibly damaging	0.78
IGL02008:Abcc2	APN	19	43821750	splice site	probably benign
IGL02041:Abcc2	APN	19	43784235	missense	probably damaging	1.00
IGL02528:Abcc2	APN	19	43798504	missense	probably benign
IGL02950:Abcc2	APN	19	43825967	missense	possibly damaging	0.83
IGL03081:Abcc2	APN	19	43782402	utr 5 prime	probably benign
IGL03397:Abcc2	APN	19	43784304	missense	probably benign	0.00
loser	UTSW	19	43839411	utr 3 prime	probably benign
nelson	UTSW	19	43803739	missense	probably benign	0.07
Sore	UTSW	19	43798194	missense	probably benign	0.22
BB002:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
BB012:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
PIT4453001:Abcc2	UTSW	19	43803782	nonsense	probably null
PIT4519001:Abcc2	UTSW	19	43819397	missense	possibly damaging	0.81
R0197:Abcc2	UTSW	19	43826614	nonsense	probably null
R0326:Abcc2	UTSW	19	43825947	missense	possibly damaging	0.90
R0391:Abcc2	UTSW	19	43821605	splice site	probably benign
R0558:Abcc2	UTSW	19	43800724	missense	probably benign	0.00
R0577:Abcc2	UTSW	19	43819401	missense	probably damaging	1.00
R0787:Abcc2	UTSW	19	43798516	critical splice donor site	probably null
R1189:Abcc2	UTSW	19	43819413	missense	probably damaging	1.00
R1200:Abcc2	UTSW	19	43833987	missense	probably damaging	0.98
R1395:Abcc2	UTSW	19	43833940	missense	probably benign	0.22
R1606:Abcc2	UTSW	19	43836652	missense	probably damaging	1.00
R1775:Abcc2	UTSW	19	43798419	missense	possibly damaging	0.88
R1797:Abcc2	UTSW	19	43814786	missense	possibly damaging	0.81
R1797:Abcc2	UTSW	19	43833987	missense	probably damaging	0.98
R1826:Abcc2	UTSW	19	43822014	missense	probably benign	0.01
R1882:Abcc2	UTSW	19	43798506	missense	probably benign	0.00
R1913:Abcc2	UTSW	19	43807244	missense	probably benign	0.10
R1986:Abcc2	UTSW	19	43829879	missense	probably damaging	1.00
R1991:Abcc2	UTSW	19	43807142	missense	probably damaging	1.00
R1992:Abcc2	UTSW	19	43807142	missense	probably damaging	1.00
R2006:Abcc2	UTSW	19	43805061	missense	probably damaging	1.00
R2057:Abcc2	UTSW	19	43818038	missense	probably damaging	1.00
R3709:Abcc2	UTSW	19	43798446	missense	possibly damaging	0.80
R3802:Abcc2	UTSW	19	43821626	missense	probably benign	0.01
R4010:Abcc2	UTSW	19	43829864	missense	possibly damaging	0.75
R4014:Abcc2	UTSW	19	43823120	missense	probably benign
R4064:Abcc2	UTSW	19	43804993	nonsense	probably null
R4296:Abcc2	UTSW	19	43823074	missense	probably damaging	1.00
R4296:Abcc2	UTSW	19	43823075	missense	probably damaging	1.00
R4363:Abcc2	UTSW	19	43799136	missense	possibly damaging	0.94
R4580:Abcc2	UTSW	19	43811119	missense	probably damaging	1.00
R4631:Abcc2	UTSW	19	43814707	missense	possibly damaging	0.70
R4671:Abcc2	UTSW	19	43800718	missense	probably benign
R4715:Abcc2	UTSW	19	43816882	missense	possibly damaging	0.54
R4726:Abcc2	UTSW	19	43832114	missense	probably benign	0.23
R4760:Abcc2	UTSW	19	43810481	missense	probably benign	0.03
R4801:Abcc2	UTSW	19	43819361	missense	probably damaging	1.00
R4802:Abcc2	UTSW	19	43819361	missense	probably damaging	1.00
R4976:Abcc2	UTSW	19	43800635	missense	probably benign	0.34
R5143:Abcc2	UTSW	19	43821661	missense	probably benign	0.28
R5206:Abcc2	UTSW	19	43818150	missense	probably damaging	1.00
R5376:Abcc2	UTSW	19	43829900	missense	possibly damaging	0.76
R5478:Abcc2	UTSW	19	43839465	utr 3 prime	probably benign
R5700:Abcc2	UTSW	19	43798194	missense	probably benign	0.22
R5863:Abcc2	UTSW	19	43798136	missense	probably benign	0.00
R5928:Abcc2	UTSW	19	43819358	missense	probably damaging	1.00
R5955:Abcc2	UTSW	19	43813190	missense	probably damaging	0.98
R5983:Abcc2	UTSW	19	43819503	missense	probably benign
R6014:Abcc2	UTSW	19	43826735	missense	probably benign
R6419:Abcc2	UTSW	19	43837508	splice site	probably null
R6497:Abcc2	UTSW	19	43805105	missense	probably damaging	1.00
R6510:Abcc2	UTSW	19	43782206	splice site	probably null
R6614:Abcc2	UTSW	19	43819361	missense	probably benign	0.01
R6649:Abcc2	UTSW	19	43812502	missense	probably benign	0.05
R6653:Abcc2	UTSW	19	43812502	missense	probably benign	0.05
R6670:Abcc2	UTSW	19	43839411	utr 3 prime	probably benign
R6964:Abcc2	UTSW	19	43798076	missense	probably benign	0.12
R6989:Abcc2	UTSW	19	43832172	missense	probably damaging	1.00
R7015:Abcc2	UTSW	19	43798178	missense	probably benign	0.03
R7026:Abcc2	UTSW	19	43816953	missense	probably benign	0.00
R7026:Abcc2	UTSW	19	43830535	missense	probably benign	0.01
R7136:Abcc2	UTSW	19	43837460	missense	probably damaging	1.00
R7252:Abcc2	UTSW	19	43827949	missense	probably damaging	0.98
R7293:Abcc2	UTSW	19	43807053	missense	probably damaging	1.00
R7392:Abcc2	UTSW	19	43808687	missense	probably damaging	0.97
R7450:Abcc2	UTSW	19	43822039	missense	probably damaging	1.00
R7654:Abcc2	UTSW	19	43826593	missense	possibly damaging	0.87
R7787:Abcc2	UTSW	19	43784246	missense	probably damaging	1.00
R7815:Abcc2	UTSW	19	43830427	missense	probably benign	0.01
R7911:Abcc2	UTSW	19	43803670	missense	probably benign	0.00
R7919:Abcc2	UTSW	19	43816809	missense	probably damaging	1.00
R7925:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
R7993:Abcc2	UTSW	19	43814792	missense	possibly damaging	0.71
R8097:Abcc2	UTSW	19	43816955	missense	probably benign	0.10
R8177:Abcc2	UTSW	19	43807080	missense	probably damaging	1.00
R8492:Abcc2	UTSW	19	43804971	missense	probably benign	0.07
R8693:Abcc2	UTSW	19	43822035	missense	probably benign	0.06
R8722:Abcc2	UTSW	19	43836613	missense	possibly damaging	0.89
R8734:Abcc2	UTSW	19	43782416	missense	probably damaging	1.00
R8774:Abcc2	UTSW	19	43799138	missense	probably damaging	0.99
R8774-TAIL:Abcc2	UTSW	19	43799138	missense	probably damaging	0.99
R8798:Abcc2	UTSW	19	43808666	missense	probably benign	0.01
R8889:Abcc2	UTSW	19	43807132	missense	possibly damaging	0.88
R8892:Abcc2	UTSW	19	43807132	missense	possibly damaging	0.88
R8936:Abcc2	UTSW	19	43808662	missense	probably benign	0.35
R9031:Abcc2	UTSW	19	43822027	missense	probably benign
R9116:Abcc2	UTSW	19	43804952	missense	probably benign	0.30
R9201:Abcc2	UTSW	19	43798441	missense	probably damaging	0.97
R9246:Abcc2	UTSW	19	43798443	missense	probably benign	0.01
R9345:Abcc2	UTSW	19	43819430	missense	probably damaging	0.97
R9487:Abcc2	UTSW	19	43818032	missense	probably damaging	1.00
X0025:Abcc2	UTSW	19	43832205	critical splice donor site	probably null
Z1177:Abcc2	UTSW	19	43803734	missense	probably benign	0.05
Z1177:Abcc2	UTSW	19	43803736	missense	probably benign	0.00
Z1177:Abcc2	UTSW	19	43823100	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCATTCTGAGCACACAGTC -3'
(R):5'- AGCGCTATCTTAGATCAGGAAGAC -3'

Sequencing Primer
(F):5'- TGAGCACACAGTCTTAATCAGTCCTG -3'
(R):5'- TTCCTGTGTGCAAAGCCG -3'

Posted On

2015-09-25