Mutagenetix > Incidental Mutation

Incidental Mutation 'BB012:Abcc2'

642754

Institutional Source

Beutler Lab

Gene Symbol

Abcc2

Ensembl Gene

ENSMUSG00000025194

Gene Name

ATP-binding cassette, sub-family member 2

Synonyms

Cmoat, Mrp2, multidrug resistance protein 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB012

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43770747-43826771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43795551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 436 (I436V)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: I436V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: I436V

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: 99.7%
20x: 99.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Coasy	T	G	11: 100,974,522 (GRCm39)	D229E	probably benign	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or1l8	A	G	2: 36,817,371 (GRCm39)	F252L	possibly damaging	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Pgls	T	C	8: 72,044,996 (GRCm39)	S46P	probably damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,749,627 (GRCm39)	D301G	probably null	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	probably benign	Het

Other mutations in Abcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Abcc2	APN	19	43,772,641 (GRCm39)	missense	probably benign	0.39
IGL01611:Abcc2	APN	19	43,815,068 (GRCm39)	missense	probably damaging	1.00
IGL01800:Abcc2	APN	19	43,772,734 (GRCm39)	missense	possibly damaging	0.78
IGL02008:Abcc2	APN	19	43,810,189 (GRCm39)	splice site	probably benign
IGL02041:Abcc2	APN	19	43,772,674 (GRCm39)	missense	probably damaging	1.00
IGL02528:Abcc2	APN	19	43,786,943 (GRCm39)	missense	probably benign
IGL02950:Abcc2	APN	19	43,814,406 (GRCm39)	missense	possibly damaging	0.83
IGL03081:Abcc2	APN	19	43,770,841 (GRCm39)	utr 5 prime	probably benign
IGL03397:Abcc2	APN	19	43,772,743 (GRCm39)	missense	probably benign	0.00
loser	UTSW	19	43,827,850 (GRCm39)	utr 3 prime	probably benign
nelson	UTSW	19	43,792,178 (GRCm39)	missense	probably benign	0.07
Sore	UTSW	19	43,786,633 (GRCm39)	missense	probably benign	0.22
BB002:Abcc2	UTSW	19	43,795,551 (GRCm39)	missense	probably benign	0.07
PIT4453001:Abcc2	UTSW	19	43,792,221 (GRCm39)	nonsense	probably null
PIT4519001:Abcc2	UTSW	19	43,807,836 (GRCm39)	missense	possibly damaging	0.81
R0197:Abcc2	UTSW	19	43,815,053 (GRCm39)	nonsense	probably null
R0326:Abcc2	UTSW	19	43,814,386 (GRCm39)	missense	possibly damaging	0.90
R0391:Abcc2	UTSW	19	43,810,044 (GRCm39)	splice site	probably benign
R0558:Abcc2	UTSW	19	43,789,163 (GRCm39)	missense	probably benign	0.00
R0577:Abcc2	UTSW	19	43,807,840 (GRCm39)	missense	probably damaging	1.00
R0787:Abcc2	UTSW	19	43,786,955 (GRCm39)	critical splice donor site	probably null
R1189:Abcc2	UTSW	19	43,807,852 (GRCm39)	missense	probably damaging	1.00
R1200:Abcc2	UTSW	19	43,822,426 (GRCm39)	missense	probably damaging	0.98
R1395:Abcc2	UTSW	19	43,822,379 (GRCm39)	missense	probably benign	0.22
R1606:Abcc2	UTSW	19	43,825,091 (GRCm39)	missense	probably damaging	1.00
R1775:Abcc2	UTSW	19	43,786,858 (GRCm39)	missense	possibly damaging	0.88
R1797:Abcc2	UTSW	19	43,822,426 (GRCm39)	missense	probably damaging	0.98
R1797:Abcc2	UTSW	19	43,803,225 (GRCm39)	missense	possibly damaging	0.81
R1826:Abcc2	UTSW	19	43,810,453 (GRCm39)	missense	probably benign	0.01
R1882:Abcc2	UTSW	19	43,786,945 (GRCm39)	missense	probably benign	0.00
R1913:Abcc2	UTSW	19	43,795,683 (GRCm39)	missense	probably benign	0.10
R1986:Abcc2	UTSW	19	43,818,318 (GRCm39)	missense	probably damaging	1.00
R1991:Abcc2	UTSW	19	43,795,581 (GRCm39)	missense	probably damaging	1.00
R1992:Abcc2	UTSW	19	43,795,581 (GRCm39)	missense	probably damaging	1.00
R2006:Abcc2	UTSW	19	43,793,500 (GRCm39)	missense	probably damaging	1.00
R2057:Abcc2	UTSW	19	43,806,477 (GRCm39)	missense	probably damaging	1.00
R3709:Abcc2	UTSW	19	43,786,885 (GRCm39)	missense	possibly damaging	0.80
R3802:Abcc2	UTSW	19	43,810,065 (GRCm39)	missense	probably benign	0.01
R4010:Abcc2	UTSW	19	43,818,303 (GRCm39)	missense	possibly damaging	0.75
R4014:Abcc2	UTSW	19	43,811,559 (GRCm39)	missense	probably benign
R4064:Abcc2	UTSW	19	43,793,432 (GRCm39)	nonsense	probably null
R4296:Abcc2	UTSW	19	43,811,514 (GRCm39)	missense	probably damaging	1.00
R4296:Abcc2	UTSW	19	43,811,513 (GRCm39)	missense	probably damaging	1.00
R4363:Abcc2	UTSW	19	43,787,575 (GRCm39)	missense	possibly damaging	0.94
R4580:Abcc2	UTSW	19	43,799,558 (GRCm39)	missense	probably damaging	1.00
R4625:Abcc2	UTSW	19	43,792,178 (GRCm39)	missense	probably benign	0.07
R4631:Abcc2	UTSW	19	43,803,146 (GRCm39)	missense	possibly damaging	0.70
R4671:Abcc2	UTSW	19	43,789,157 (GRCm39)	missense	probably benign
R4715:Abcc2	UTSW	19	43,805,321 (GRCm39)	missense	possibly damaging	0.54
R4726:Abcc2	UTSW	19	43,820,553 (GRCm39)	missense	probably benign	0.23
R4760:Abcc2	UTSW	19	43,798,920 (GRCm39)	missense	probably benign	0.03
R4801:Abcc2	UTSW	19	43,807,800 (GRCm39)	missense	probably damaging	1.00
R4802:Abcc2	UTSW	19	43,807,800 (GRCm39)	missense	probably damaging	1.00
R4976:Abcc2	UTSW	19	43,789,074 (GRCm39)	missense	probably benign	0.34
R5143:Abcc2	UTSW	19	43,810,100 (GRCm39)	missense	probably benign	0.28
R5206:Abcc2	UTSW	19	43,806,589 (GRCm39)	missense	probably damaging	1.00
R5376:Abcc2	UTSW	19	43,818,339 (GRCm39)	missense	possibly damaging	0.76
R5478:Abcc2	UTSW	19	43,827,904 (GRCm39)	utr 3 prime	probably benign
R5700:Abcc2	UTSW	19	43,786,633 (GRCm39)	missense	probably benign	0.22
R5863:Abcc2	UTSW	19	43,786,575 (GRCm39)	missense	probably benign	0.00
R5928:Abcc2	UTSW	19	43,807,797 (GRCm39)	missense	probably damaging	1.00
R5955:Abcc2	UTSW	19	43,801,629 (GRCm39)	missense	probably damaging	0.98
R5983:Abcc2	UTSW	19	43,807,942 (GRCm39)	missense	probably benign
R6014:Abcc2	UTSW	19	43,815,174 (GRCm39)	missense	probably benign
R6419:Abcc2	UTSW	19	43,825,947 (GRCm39)	splice site	probably null
R6497:Abcc2	UTSW	19	43,793,544 (GRCm39)	missense	probably damaging	1.00
R6510:Abcc2	UTSW	19	43,770,645 (GRCm39)	splice site	probably null
R6614:Abcc2	UTSW	19	43,807,800 (GRCm39)	missense	probably benign	0.01
R6649:Abcc2	UTSW	19	43,800,941 (GRCm39)	missense	probably benign	0.05
R6653:Abcc2	UTSW	19	43,800,941 (GRCm39)	missense	probably benign	0.05
R6670:Abcc2	UTSW	19	43,827,850 (GRCm39)	utr 3 prime	probably benign
R6964:Abcc2	UTSW	19	43,786,515 (GRCm39)	missense	probably benign	0.12
R6989:Abcc2	UTSW	19	43,820,611 (GRCm39)	missense	probably damaging	1.00
R7015:Abcc2	UTSW	19	43,786,617 (GRCm39)	missense	probably benign	0.03
R7026:Abcc2	UTSW	19	43,818,974 (GRCm39)	missense	probably benign	0.01
R7026:Abcc2	UTSW	19	43,805,392 (GRCm39)	missense	probably benign	0.00
R7136:Abcc2	UTSW	19	43,825,899 (GRCm39)	missense	probably damaging	1.00
R7252:Abcc2	UTSW	19	43,816,388 (GRCm39)	missense	probably damaging	0.98
R7293:Abcc2	UTSW	19	43,795,492 (GRCm39)	missense	probably damaging	1.00
R7392:Abcc2	UTSW	19	43,797,126 (GRCm39)	missense	probably damaging	0.97
R7450:Abcc2	UTSW	19	43,810,478 (GRCm39)	missense	probably damaging	1.00
R7654:Abcc2	UTSW	19	43,815,032 (GRCm39)	missense	possibly damaging	0.87
R7787:Abcc2	UTSW	19	43,772,685 (GRCm39)	missense	probably damaging	1.00
R7815:Abcc2	UTSW	19	43,818,866 (GRCm39)	missense	probably benign	0.01
R7911:Abcc2	UTSW	19	43,792,109 (GRCm39)	missense	probably benign	0.00
R7919:Abcc2	UTSW	19	43,805,248 (GRCm39)	missense	probably damaging	1.00
R7925:Abcc2	UTSW	19	43,795,551 (GRCm39)	missense	probably benign	0.07
R7993:Abcc2	UTSW	19	43,803,231 (GRCm39)	missense	possibly damaging	0.71
R8097:Abcc2	UTSW	19	43,805,394 (GRCm39)	missense	probably benign	0.10
R8177:Abcc2	UTSW	19	43,795,519 (GRCm39)	missense	probably damaging	1.00
R8492:Abcc2	UTSW	19	43,793,410 (GRCm39)	missense	probably benign	0.07
R8693:Abcc2	UTSW	19	43,810,474 (GRCm39)	missense	probably benign	0.06
R8722:Abcc2	UTSW	19	43,825,052 (GRCm39)	missense	possibly damaging	0.89
R8734:Abcc2	UTSW	19	43,770,855 (GRCm39)	missense	probably damaging	1.00
R8774:Abcc2	UTSW	19	43,787,577 (GRCm39)	missense	probably damaging	0.99
R8774-TAIL:Abcc2	UTSW	19	43,787,577 (GRCm39)	missense	probably damaging	0.99
R8798:Abcc2	UTSW	19	43,797,105 (GRCm39)	missense	probably benign	0.01
R8889:Abcc2	UTSW	19	43,795,571 (GRCm39)	missense	possibly damaging	0.88
R8892:Abcc2	UTSW	19	43,795,571 (GRCm39)	missense	possibly damaging	0.88
R8936:Abcc2	UTSW	19	43,797,101 (GRCm39)	missense	probably benign	0.35
R9031:Abcc2	UTSW	19	43,810,466 (GRCm39)	missense	probably benign
R9116:Abcc2	UTSW	19	43,793,391 (GRCm39)	missense	probably benign	0.30
R9201:Abcc2	UTSW	19	43,786,880 (GRCm39)	missense	probably damaging	0.97
R9246:Abcc2	UTSW	19	43,786,882 (GRCm39)	missense	probably benign	0.01
R9345:Abcc2	UTSW	19	43,807,869 (GRCm39)	missense	probably damaging	0.97
R9487:Abcc2	UTSW	19	43,806,471 (GRCm39)	missense	probably damaging	1.00
X0025:Abcc2	UTSW	19	43,820,644 (GRCm39)	critical splice donor site	probably null
Z1177:Abcc2	UTSW	19	43,811,539 (GRCm39)	nonsense	probably null
Z1177:Abcc2	UTSW	19	43,792,175 (GRCm39)	missense	probably benign	0.00
Z1177:Abcc2	UTSW	19	43,792,173 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTATATGGAACCCACCTTTGTGTTG -3'
(R):5'- TGGTCAAAAGAGACATGCGC -3'

Sequencing Primer
(F):5'- GTTGTGTCTTCATTTCCTAAGGTC -3'
(R):5'- GACATGCGCACAGGTGATTCTTC -3'

Posted On

2020-08-01