Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Abcc2'

541916

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

045074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43782192-43840740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43798076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 116 (I116L)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: I116L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: I116L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	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
R4625:Abcc2	UTSW	19	43803739	missense	probably benign	0.07
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
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'- AGAGGGTTCCATAGCATCAGGG -3'
(R):5'- ACCTCGATTGGCTACCAGAG -3'

Sequencing Primer
(F):5'- GGCATGTAAATTTGACACTCACG -3'
(R):5'- AGGGTCTAGGACAAGCATCTTTG -3'

Posted On

2018-11-28