Mutagenetix > Incidental Mutation

Incidental Mutation 'R7919:Abcc2'

648257

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 #

R7919 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43770747-43826771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43805248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 701 (Y701H)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably damaging
Transcript: ENSMUST00000026208
AA Change: Y701H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: Y701H

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	G	3: 137,885,311 (GRCm39)	K95T	probably damaging	Het
9430097D07Rik	T	C	2: 32,464,461 (GRCm39)	T113A	unknown	Het
Adcy2	T	A	13: 69,036,091 (GRCm39)	H190L	probably benign	Het
Arhgef15	T	C	11: 68,838,431 (GRCm39)	T623A	probably benign	Het
Armc3	A	G	2: 19,290,906 (GRCm39)	T462A	probably benign	Het
Calhm2	C	T	19: 47,121,447 (GRCm39)	V241M	possibly damaging	Het
Cdc25c	T	C	18: 34,868,429 (GRCm39)	I314V	probably damaging	Het
Cntrl	G	A	2: 35,017,413 (GRCm39)	D407N	probably benign	Het
Dnah5	A	G	15: 28,350,742 (GRCm39)	E2588G	probably damaging	Het
Dnm1	T	A	2: 32,229,990 (GRCm39)	N178Y	probably damaging	Het
Eaf2	T	A	16: 36,630,914 (GRCm39)	E86D	probably damaging	Het
Elf1	C	A	14: 79,798,339 (GRCm39)	D75E	probably benign	Het
Fem1c	T	C	18: 46,657,370 (GRCm39)	T115A	probably damaging	Het
Garnl3	A	G	2: 32,936,611 (GRCm39)	V186A	probably benign	Het
Gatb	T	A	3: 85,511,828 (GRCm39)	S194R	probably damaging	Het
Gm10775	T	A	13: 65,407,913 (GRCm39)	N71K	unknown	Het
Gm19965	T	A	1: 116,749,850 (GRCm39)	C510*	probably null	Het
Hydin	A	G	8: 110,993,971 (GRCm39)	T2A	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jag1	G	A	2: 136,930,366 (GRCm39)	T726M	probably damaging	Het
Kank1	A	G	19: 25,408,439 (GRCm39)	D1306G	probably damaging	Het
Krt26	T	A	11: 99,224,420 (GRCm39)	E366V	probably damaging	Het
Ksr2	A	G	5: 117,899,418 (GRCm39)	E872G	possibly damaging	Het
Med6	G	A	12: 81,620,621 (GRCm39)	R242*	probably null	Het
Meis2	A	G	2: 115,697,788 (GRCm39)	V370A	probably benign	Het
Mta2	C	T	19: 8,926,498 (GRCm39)	R480*	probably null	Het
Mup3	A	T	4: 62,002,829 (GRCm39)	N177K	probably damaging	Het
Myo15a	T	A	11: 60,417,356 (GRCm39)	V3435E	probably damaging	Het
Ncapg	A	G	5: 45,853,390 (GRCm39)	T880A	probably benign	Het
Obox1	A	T	7: 15,290,256 (GRCm39)	K200*	probably null	Het
Or8j3	A	T	2: 86,028,609 (GRCm39)	C162*	probably null	Het
Ovgp1	T	A	3: 105,888,601 (GRCm39)	V319D	probably damaging	Het
Plxdc2	A	T	2: 16,553,036 (GRCm39)	I145F	probably damaging	Het
Prr30	T	C	14: 101,436,547 (GRCm39)	N5S	possibly damaging	Het
Ptcd3	T	C	6: 71,880,438 (GRCm39)	Y95C	probably damaging	Het
Rsl1d1	A	G	16: 11,020,297 (GRCm39)	S44P	probably benign	Het
Sh3gl2	A	G	4: 85,273,595 (GRCm39)	E49G	probably benign	Het
Shroom1	A	G	11: 53,354,220 (GRCm39)	T47A	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Stx1b	A	G	7: 127,406,507 (GRCm39)	S281P	probably benign	Het
Tg	A	T	15: 66,555,923 (GRCm39)	I872F	possibly damaging	Het
Ubqln3	C	T	7: 103,790,399 (GRCm39)	A564T	probably benign	Het
Vsnl1	T	C	12: 11,382,087 (GRCm39)	E98G	possibly damaging	Het
Vwf	T	C	6: 125,624,822 (GRCm39)	L1857P		Het
Wars1	C	T	12: 108,847,030 (GRCm39)	E125K	probably benign	Het
Wnt16	G	A	6: 22,291,049 (GRCm39)	S159N	probably benign	Het
Zcchc14	A	G	8: 122,330,912 (GRCm39)	F817S	probably damaging	Het
Zup1	A	G	10: 33,825,108 (GRCm39)	S125P	possibly 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
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
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'- TTCAGGATCAAGGCAAGAGAAC -3'
(R):5'- TCAAGGTTCCTCGCCCCA -3'

Sequencing Primer
(F):5'- GAGAATGTTTAATGGCAGGATGCTG -3'
(R):5'- GGTTCCTCGCCCCACGTAC -3'

Posted On

2020-09-15