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 member 2

Synonyms

Cmoat, Mrp2, multidrug resistance protein 2

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

43770747-43826771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43786515 bp (GRCm39)

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: 97,866,959 (GRCm39)	Y334*	probably null	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	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
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
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'- AGAGGGTTCCATAGCATCAGGG -3'
(R):5'- ACCTCGATTGGCTACCAGAG -3'

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

Posted On

2018-11-28