Mutagenetix > Incidental Mutation

Incidental Mutation 'R1200:Abcc2'

101339

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

MMRRC Submission

039270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43770747-43826771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43822426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1421 (Q1421H)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026208] [ENSMUST00000099413]

AlphaFold

Q8VI47

Predicted Effect

probably damaging
Transcript: ENSMUST00000026208
AA Change: Q1421H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: Q1421H

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

probably benign
Transcript: ENSMUST00000099413

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acat1	T	A	9: 53,494,810 (GRCm39)	I361F	possibly damaging	Het
Akp3	T	A	1: 87,052,982 (GRCm39)	I57N	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Axin2	C	A	11: 108,822,376 (GRCm39)	D309E	probably damaging	Het
Clstn3	G	T	6: 124,436,129 (GRCm39)	P207T	probably damaging	Het
Dip2b	C	A	15: 100,107,626 (GRCm39)	A1212E	probably benign	Het
Dnah5	A	G	15: 28,246,403 (GRCm39)	I580M	possibly damaging	Het
Dpp3	T	C	19: 4,973,157 (GRCm39)	T146A	probably benign	Het
Fam227a	A	G	15: 79,496,738 (GRCm39)	F613S	possibly damaging	Het
Fam83b	T	C	9: 76,399,594 (GRCm39)	D503G	probably damaging	Het
Flot2	C	T	11: 77,945,631 (GRCm39)	T2M	probably damaging	Het
Herc1	T	C	9: 66,393,406 (GRCm39)	L4095S	probably damaging	Het
Kcnh7	T	C	2: 62,607,739 (GRCm39)	Y614C	probably damaging	Het
Lcp1	T	A	14: 75,466,742 (GRCm39)	F616L	possibly damaging	Het
Myh15	T	A	16: 48,916,882 (GRCm39)	Y401N	probably damaging	Het
Neb	T	C	2: 52,057,657 (GRCm39)	Y6144C	probably damaging	Het
Nr1h5	A	G	3: 102,855,178 (GRCm39)	F308L	probably damaging	Het
Ntn5	G	T	7: 45,341,806 (GRCm39)	V309L	possibly damaging	Het
Or51aa2	T	A	7: 103,188,274 (GRCm39)	T56S	probably benign	Het
Or8k21	A	T	2: 86,145,477 (GRCm39)	L51Q	probably damaging	Het
Pex1	G	A	5: 3,656,411 (GRCm39)		probably null	Het
Pld1	A	T	3: 28,103,435 (GRCm39)	D380V	probably damaging	Het
Prdm1	A	G	10: 44,326,126 (GRCm39)	Y148H	probably damaging	Het
Ptchd3	T	C	11: 121,722,087 (GRCm39)		probably null	Het
Rnf17	C	T	14: 56,705,163 (GRCm39)	T689I	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Twf1	A	T	15: 94,484,239 (GRCm39)	H94Q	probably benign	Het
Vmn2r13	T	G	5: 109,322,068 (GRCm39)	I210L	probably damaging	Het
Zbtb49	T	C	5: 38,370,675 (GRCm39)	E402G	probably damaging	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
BB012: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
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'- CATAAGCCCTGATGGCTTCCCATTC -3'
(R):5'- TTGCTGCTGAGCCTTGAGACTCTG -3'

Sequencing Primer
(F):5'- GATGGCTTCCCATTCTCCAAC -3'
(R):5'- atcctcctgcctctgcc -3'

Posted On

2014-01-15