Mutagenetix > Incidental Mutation

Incidental Mutation 'R8492:Abcc2'

658087

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

067934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43770747-43826771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43793410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 354 (Y354F)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: Y354F

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: Y354F

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,094,243 (GRCm39)	R43K	possibly damaging	Het
Aloxe3	A	T	11: 69,017,301 (GRCm39)	T25S	possibly damaging	Het
Als2	T	C	1: 59,250,503 (GRCm39)	K414E	probably damaging	Het
Ankmy2	A	T	12: 36,226,590 (GRCm39)	I95F	probably damaging	Het
Ankrd35	T	G	3: 96,589,529 (GRCm39)		probably null	Het
Ap3b1	A	G	13: 94,531,294 (GRCm39)	N91S	possibly damaging	Het
Apip	T	A	2: 102,922,866 (GRCm39)	L228H	probably damaging	Het
Arhgap23	A	G	11: 97,365,847 (GRCm39)	Y488C	probably damaging	Het
Asah2	G	A	19: 31,983,659 (GRCm39)	T595M	probably benign	Het
Ccdc174	G	C	6: 91,865,138 (GRCm39)	R132T	probably benign	Het
Ccng2	A	C	5: 93,419,313 (GRCm39)	H233P	probably damaging	Het
Cemip	A	G	7: 83,622,422 (GRCm39)	F586L	probably damaging	Het
Cenpf	A	G	1: 189,390,926 (GRCm39)	S969P	probably damaging	Het
Cep170b	G	A	12: 112,711,134 (GRCm39)	D1505N	probably damaging	Het
Colec12	T	A	18: 9,876,980 (GRCm39)		probably null	Het
Cytip	A	G	2: 58,027,869 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,167,525 (GRCm39)	S1026T	probably damaging	Het
Disc1	T	A	8: 125,817,177 (GRCm39)	D372E	probably damaging	Het
Dlgap2	A	T	8: 14,828,271 (GRCm39)	M560L	possibly damaging	Het
Dync2li1	C	A	17: 84,957,134 (GRCm39)		probably null	Het
Eif3c	C	T	7: 126,162,282 (GRCm39)	G180D	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
G6pc2	A	G	2: 69,050,586 (GRCm39)	I70M	probably damaging	Het
Gm5145	A	T	17: 20,790,681 (GRCm39)	I20F	probably damaging	Het
Hba-x	T	A	11: 32,227,921 (GRCm39)	F128L	probably benign	Het
Hspb1	G	A	5: 135,918,222 (GRCm39)	E190K	possibly damaging	Het
Ift122	T	A	6: 115,863,966 (GRCm39)	S246T	probably benign	Het
Inppl1	A	T	7: 101,475,985 (GRCm39)	S828T	probably damaging	Het
Krt84	C	A	15: 101,438,051 (GRCm39)	Q301H	probably damaging	Het
Malrd1	T	G	2: 15,614,934 (GRCm39)	S250A		Het
Mettl21e	A	G	1: 44,245,553 (GRCm39)	I231T	probably damaging	Het
Miip	T	C	4: 147,945,881 (GRCm39)	D341G	probably damaging	Het
Ncoa1	T	C	12: 4,313,473 (GRCm39)	D1287G	probably damaging	Het
Ndufb5	T	G	3: 32,805,377 (GRCm39)		probably null	Het
Neb	T	C	2: 52,203,224 (GRCm39)	E309G	probably damaging	Het
Nf1	T	A	11: 79,299,248 (GRCm39)	F199I	probably benign	Het
Or12k7	T	A	2: 36,958,695 (GRCm39)	I126N	probably damaging	Het
Pcdhgc3	T	A	18: 37,940,347 (GRCm39)	Y249*	probably null	Het
Plekhg3	G	T	12: 76,622,790 (GRCm39)	V677L	probably benign	Het
Ppm1f	T	C	16: 16,733,042 (GRCm39)	Y25H	probably damaging	Het
Prok2	A	T	6: 99,691,437 (GRCm39)	H75Q	probably benign	Het
Ralgapa2	A	T	2: 146,184,524 (GRCm39)	H1494Q	possibly damaging	Het
Rapgef6	T	G	11: 54,581,063 (GRCm39)	I1277S	probably damaging	Het
Rhob	G	T	12: 8,549,531 (GRCm39)	Y34*	probably null	Het
Rnf141	T	G	7: 110,436,407 (GRCm39)	D7A	probably benign	Het
Robo1	T	C	16: 72,809,911 (GRCm39)	S1220P	probably benign	Het
Rpl13a	A	G	7: 44,775,945 (GRCm39)	V48A	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,587 (GRCm39)	H362Q	probably damaging	Het
Shld2	T	A	14: 33,967,189 (GRCm39)	K122N	probably damaging	Het
Slc22a8	G	T	19: 8,571,595 (GRCm39)	V109L	probably damaging	Het
Slc5a10	A	G	11: 61,564,809 (GRCm39)	V390A	probably benign	Het
Snx14	T	C	9: 88,263,869 (GRCm39)	N839D	possibly damaging	Het
Taf1c	G	A	8: 120,325,456 (GRCm39)	T802I	probably benign	Het
Tdh	C	A	14: 63,730,269 (GRCm39)	D337Y	probably damaging	Het
Tmem156	A	T	5: 65,222,438 (GRCm39)	Y255N	possibly damaging	Het
Tmpo	C	A	10: 90,997,720 (GRCm39)	R689L	probably benign	Het
Trim56	A	C	5: 137,141,783 (GRCm39)	C578G	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trpv3	G	A	11: 73,179,035 (GRCm39)	W481*	probably null	Het
Tssk3	T	C	4: 129,383,445 (GRCm39)	M76V	probably benign	Het
Vmn1r215	A	T	13: 23,260,056 (GRCm39)	Y32F	possibly damaging	Het
Vmn1r53	A	G	6: 90,200,394 (GRCm39)	I310T	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,470 (GRCm39)	T148A	probably benign	Het
Zdhhc14	G	A	17: 5,762,689 (GRCm39)	V198I	probably damaging	Het
Zfp109	T	C	7: 23,927,499 (GRCm39)	R637G	possibly damaging	Het
Zic5	G	T	14: 122,702,474 (GRCm39)	Q86K	unknown	Het
Zzef1	T	A	11: 72,777,572 (GRCm39)	M1801K	probably damaging	Het
Zzef1	T	G	11: 72,763,430 (GRCm39)	V1359G	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
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
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'- TGACAGAGCTGAAACATCACAGT -3'
(R):5'- TTTTGGCTATACTTGGCATGAC -3'

Sequencing Primer
(F):5'- CTACAGCCTGATCTTATGTAGGCAG -3'
(R):5'- CCACTTACCTTCTTATATACGGAAGC -3'

Posted On

2021-01-18