Mutagenetix > Incidental Mutation

Incidental Mutation 'R3802:Abcc2'

274384

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

040761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43782192-43840740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43821626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 874 (N874K)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: N874K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: N874K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	T	14: 8,510,931	D494E	probably benign	Het
9230104L09Rik	T	C	2: 148,850,696	H62R	probably benign	Het
Axl	A	T	7: 25,788,477	M1K	probably null	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Ccdc105	A	C	10: 78,748,480	F367C	probably damaging	Het
Ccdc39	A	T	3: 33,819,895	M596K	probably damaging	Het
Cfap58	G	T	19: 47,953,059	D289Y	possibly damaging	Het
Cnn2	A	G	10: 79,993,495	D153G	probably benign	Het
Cubn	T	C	2: 13,360,353	I1625V	probably benign	Het
Gm13178	A	T	4: 144,703,504	L305Q	possibly damaging	Het
Gprc5b	C	T	7: 118,983,720	D309N	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,964,235	T210I	probably benign	Het
H2-Ke6	A	T	17: 34,026,467	V231E	probably damaging	Het
Hhipl1	A	G	12: 108,312,307	E298G	probably benign	Het
Hivep2	A	G	10: 14,148,961	D2173G	possibly damaging	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Kpnb1	A	T	11: 97,166,129	V638E	possibly damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Mga	T	A	2: 119,947,339	N1788K	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr10	A	G	7: 64,320,628	Y373C	probably benign	Het
Ncoa6	C	T	2: 155,405,564	G1940D	probably benign	Het
Nelfe	T	A	17: 34,853,901	F166L	possibly damaging	Het
Nfatc3	A	G	8: 106,079,645	Y374C	probably damaging	Het
Nhlrc3	A	G	3: 53,458,631	V147A	possibly damaging	Het
Olfr583	A	G	7: 103,052,165	Y289C	probably benign	Het
Olfr952	G	A	9: 39,426,286	P262S	probably damaging	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Papolg	A	T	11: 23,876,449	I235N	probably damaging	Het
Pdgfrl	T	C	8: 40,985,557	S177P	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prpf4b	T	C	13: 34,883,682		probably benign	Het
Sgk1	T	C	10: 21,997,412	V259A	probably damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Tas2r106	C	A	6: 131,678,366	S174I	probably benign	Het
Tsn	A	T	1: 118,305,296	F93I	probably damaging	Het
Vav2	T	C	2: 27,267,223		probably benign	Het
Vmn2r63	A	T	7: 42,903,405	M809K	probably damaging	Het
Zfp260	G	A	7: 30,105,079	E135K	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,495,142		probably benign	Het

Other mutations in Abcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Abcc2	APN	19	43,784,202 (GRCm38)	missense	probably benign	0.39
IGL01611:Abcc2	APN	19	43,826,629 (GRCm38)	missense	probably damaging	1.00
IGL01800:Abcc2	APN	19	43,784,295 (GRCm38)	missense	possibly damaging	0.78
IGL02008:Abcc2	APN	19	43,821,750 (GRCm38)	splice site	probably benign
IGL02041:Abcc2	APN	19	43,784,235 (GRCm38)	missense	probably damaging	1.00
IGL02528:Abcc2	APN	19	43,798,504 (GRCm38)	missense	probably benign
IGL02950:Abcc2	APN	19	43,825,967 (GRCm38)	missense	possibly damaging	0.83
IGL03081:Abcc2	APN	19	43,782,402 (GRCm38)	utr 5 prime	probably benign
IGL03397:Abcc2	APN	19	43,784,304 (GRCm38)	missense	probably benign	0.00
loser	UTSW	19	43,839,411 (GRCm38)	utr 3 prime	probably benign
nelson	UTSW	19	43,803,739 (GRCm38)	missense	probably benign	0.07
Sore	UTSW	19	43,798,194 (GRCm38)	missense	probably benign	0.22
BB002:Abcc2	UTSW	19	43,807,112 (GRCm38)	missense	probably benign	0.07
BB012:Abcc2	UTSW	19	43,807,112 (GRCm38)	missense	probably benign	0.07
PIT4453001:Abcc2	UTSW	19	43,803,782 (GRCm38)	nonsense	probably null
PIT4519001:Abcc2	UTSW	19	43,819,397 (GRCm38)	missense	possibly damaging	0.81
R0197:Abcc2	UTSW	19	43,826,614 (GRCm38)	nonsense	probably null
R0326:Abcc2	UTSW	19	43,825,947 (GRCm38)	missense	possibly damaging	0.90
R0391:Abcc2	UTSW	19	43,821,605 (GRCm38)	splice site	probably benign
R0558:Abcc2	UTSW	19	43,800,724 (GRCm38)	missense	probably benign	0.00
R0577:Abcc2	UTSW	19	43,819,401 (GRCm38)	missense	probably damaging	1.00
R0787:Abcc2	UTSW	19	43,798,516 (GRCm38)	critical splice donor site	probably null
R1189:Abcc2	UTSW	19	43,819,413 (GRCm38)	missense	probably damaging	1.00
R1200:Abcc2	UTSW	19	43,833,987 (GRCm38)	missense	probably damaging	0.98
R1395:Abcc2	UTSW	19	43,833,940 (GRCm38)	missense	probably benign	0.22
R1606:Abcc2	UTSW	19	43,836,652 (GRCm38)	missense	probably damaging	1.00
R1775:Abcc2	UTSW	19	43,798,419 (GRCm38)	missense	possibly damaging	0.88
R1797:Abcc2	UTSW	19	43,833,987 (GRCm38)	missense	probably damaging	0.98
R1797:Abcc2	UTSW	19	43,814,786 (GRCm38)	missense	possibly damaging	0.81
R1826:Abcc2	UTSW	19	43,822,014 (GRCm38)	missense	probably benign	0.01
R1882:Abcc2	UTSW	19	43,798,506 (GRCm38)	missense	probably benign	0.00
R1913:Abcc2	UTSW	19	43,807,244 (GRCm38)	missense	probably benign	0.10
R1986:Abcc2	UTSW	19	43,829,879 (GRCm38)	missense	probably damaging	1.00
R1991:Abcc2	UTSW	19	43,807,142 (GRCm38)	missense	probably damaging	1.00
R1992:Abcc2	UTSW	19	43,807,142 (GRCm38)	missense	probably damaging	1.00
R2006:Abcc2	UTSW	19	43,805,061 (GRCm38)	missense	probably damaging	1.00
R2057:Abcc2	UTSW	19	43,818,038 (GRCm38)	missense	probably damaging	1.00
R3709:Abcc2	UTSW	19	43,798,446 (GRCm38)	missense	possibly damaging	0.80
R4010:Abcc2	UTSW	19	43,829,864 (GRCm38)	missense	possibly damaging	0.75
R4014:Abcc2	UTSW	19	43,823,120 (GRCm38)	missense	probably benign
R4064:Abcc2	UTSW	19	43,804,993 (GRCm38)	nonsense	probably null
R4296:Abcc2	UTSW	19	43,823,075 (GRCm38)	missense	probably damaging	1.00
R4296:Abcc2	UTSW	19	43,823,074 (GRCm38)	missense	probably damaging	1.00
R4363:Abcc2	UTSW	19	43,799,136 (GRCm38)	missense	possibly damaging	0.94
R4580:Abcc2	UTSW	19	43,811,119 (GRCm38)	missense	probably damaging	1.00
R4625:Abcc2	UTSW	19	43,803,739 (GRCm38)	missense	probably benign	0.07
R4631:Abcc2	UTSW	19	43,814,707 (GRCm38)	missense	possibly damaging	0.70
R4671:Abcc2	UTSW	19	43,800,718 (GRCm38)	missense	probably benign
R4715:Abcc2	UTSW	19	43,816,882 (GRCm38)	missense	possibly damaging	0.54
R4726:Abcc2	UTSW	19	43,832,114 (GRCm38)	missense	probably benign	0.23
R4760:Abcc2	UTSW	19	43,810,481 (GRCm38)	missense	probably benign	0.03
R4801:Abcc2	UTSW	19	43,819,361 (GRCm38)	missense	probably damaging	1.00
R4802:Abcc2	UTSW	19	43,819,361 (GRCm38)	missense	probably damaging	1.00
R4976:Abcc2	UTSW	19	43,800,635 (GRCm38)	missense	probably benign	0.34
R5143:Abcc2	UTSW	19	43,821,661 (GRCm38)	missense	probably benign	0.28
R5206:Abcc2	UTSW	19	43,818,150 (GRCm38)	missense	probably damaging	1.00
R5376:Abcc2	UTSW	19	43,829,900 (GRCm38)	missense	possibly damaging	0.76
R5478:Abcc2	UTSW	19	43,839,465 (GRCm38)	utr 3 prime	probably benign
R5700:Abcc2	UTSW	19	43,798,194 (GRCm38)	missense	probably benign	0.22
R5863:Abcc2	UTSW	19	43,798,136 (GRCm38)	missense	probably benign	0.00
R5928:Abcc2	UTSW	19	43,819,358 (GRCm38)	missense	probably damaging	1.00
R5955:Abcc2	UTSW	19	43,813,190 (GRCm38)	missense	probably damaging	0.98
R5983:Abcc2	UTSW	19	43,819,503 (GRCm38)	missense	probably benign
R6014:Abcc2	UTSW	19	43,826,735 (GRCm38)	missense	probably benign
R6419:Abcc2	UTSW	19	43,837,508 (GRCm38)	splice site	probably null
R6497:Abcc2	UTSW	19	43,805,105 (GRCm38)	missense	probably damaging	1.00
R6510:Abcc2	UTSW	19	43,782,206 (GRCm38)	splice site	probably null
R6614:Abcc2	UTSW	19	43,819,361 (GRCm38)	missense	probably benign	0.01
R6649:Abcc2	UTSW	19	43,812,502 (GRCm38)	missense	probably benign	0.05
R6653:Abcc2	UTSW	19	43,812,502 (GRCm38)	missense	probably benign	0.05
R6670:Abcc2	UTSW	19	43,839,411 (GRCm38)	utr 3 prime	probably benign
R6964:Abcc2	UTSW	19	43,798,076 (GRCm38)	missense	probably benign	0.12
R6989:Abcc2	UTSW	19	43,832,172 (GRCm38)	missense	probably damaging	1.00
R7015:Abcc2	UTSW	19	43,798,178 (GRCm38)	missense	probably benign	0.03
R7026:Abcc2	UTSW	19	43,830,535 (GRCm38)	missense	probably benign	0.01
R7026:Abcc2	UTSW	19	43,816,953 (GRCm38)	missense	probably benign	0.00
R7136:Abcc2	UTSW	19	43,837,460 (GRCm38)	missense	probably damaging	1.00
R7252:Abcc2	UTSW	19	43,827,949 (GRCm38)	missense	probably damaging	0.98
R7293:Abcc2	UTSW	19	43,807,053 (GRCm38)	missense	probably damaging	1.00
R7392:Abcc2	UTSW	19	43,808,687 (GRCm38)	missense	probably damaging	0.97
R7450:Abcc2	UTSW	19	43,822,039 (GRCm38)	missense	probably damaging	1.00
R7654:Abcc2	UTSW	19	43,826,593 (GRCm38)	missense	possibly damaging	0.87
R7787:Abcc2	UTSW	19	43,784,246 (GRCm38)	missense	probably damaging	1.00
R7815:Abcc2	UTSW	19	43,830,427 (GRCm38)	missense	probably benign	0.01
R7911:Abcc2	UTSW	19	43,803,670 (GRCm38)	missense	probably benign	0.00
R7919:Abcc2	UTSW	19	43,816,809 (GRCm38)	missense	probably damaging	1.00
R7925:Abcc2	UTSW	19	43,807,112 (GRCm38)	missense	probably benign	0.07
R7993:Abcc2	UTSW	19	43,814,792 (GRCm38)	missense	possibly damaging	0.71
R8097:Abcc2	UTSW	19	43,816,955 (GRCm38)	missense	probably benign	0.10
R8177:Abcc2	UTSW	19	43,807,080 (GRCm38)	missense	probably damaging	1.00
R8492:Abcc2	UTSW	19	43,804,971 (GRCm38)	missense	probably benign	0.07
R8693:Abcc2	UTSW	19	43,822,035 (GRCm38)	missense	probably benign	0.06
R8722:Abcc2	UTSW	19	43,836,613 (GRCm38)	missense	possibly damaging	0.89
R8734:Abcc2	UTSW	19	43,782,416 (GRCm38)	missense	probably damaging	1.00
R8774:Abcc2	UTSW	19	43,799,138 (GRCm38)	missense	probably damaging	0.99
R8774-TAIL:Abcc2	UTSW	19	43,799,138 (GRCm38)	missense	probably damaging	0.99
R8798:Abcc2	UTSW	19	43,808,666 (GRCm38)	missense	probably benign	0.01
R8889:Abcc2	UTSW	19	43,807,132 (GRCm38)	missense	possibly damaging	0.88
R8892:Abcc2	UTSW	19	43,807,132 (GRCm38)	missense	possibly damaging	0.88
R8936:Abcc2	UTSW	19	43,808,662 (GRCm38)	missense	probably benign	0.35
R9031:Abcc2	UTSW	19	43,822,027 (GRCm38)	missense	probably benign
R9116:Abcc2	UTSW	19	43,804,952 (GRCm38)	missense	probably benign	0.30
R9201:Abcc2	UTSW	19	43,798,441 (GRCm38)	missense	probably damaging	0.97
R9246:Abcc2	UTSW	19	43,798,443 (GRCm38)	missense	probably benign	0.01
R9345:Abcc2	UTSW	19	43,819,430 (GRCm38)	missense	probably damaging	0.97
R9487:Abcc2	UTSW	19	43,818,032 (GRCm38)	missense	probably damaging	1.00
X0025:Abcc2	UTSW	19	43,832,205 (GRCm38)	critical splice donor site	probably null
Z1177:Abcc2	UTSW	19	43,823,100 (GRCm38)	nonsense	probably null
Z1177:Abcc2	UTSW	19	43,803,736 (GRCm38)	missense	probably benign	0.00
Z1177:Abcc2	UTSW	19	43,803,734 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGGGCACATTAAACTACTGC -3'
(R):5'- AGCTGACTCTCCATGACATCTATTC -3'

Sequencing Primer
(F):5'- GGGCACATTAAACTACTGCAAGATTC -3'
(R):5'- TCTCTTGGGAAAAGTCTACATAGAG -3'

Posted On

2015-04-02