Mutagenetix > Incidental Mutation

Incidental Mutation 'R1826:Abcc2'

206865

Institutional Source

Beutler Lab

Gene Symbol

Abcc2

Ensembl Gene

ENSMUSG00000025194

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 2

Synonyms

multidrug resistance protein 2, Cmoat, Mrp2

MMRRC Submission

039853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43782192-43840740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43822014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 917 (S917P)

Ref Sequence

ENSEMBL: ENSMUSP00000026208 (fasta)

Gene Model

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

AlphaFold

Q8VI47

Predicted Effect

probably benign
Transcript: ENSMUST00000026208
AA Change: S917P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: S917P

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,622,556	V256M	possibly damaging	Het
Adam34	T	A	8: 43,651,342	D422V	probably damaging	Het
Adam6a	T	A	12: 113,546,122	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,520	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,303,102		probably null	Het
Aspg	T	A	12: 112,123,418	D463E	probably damaging	Het
Atad2b	G	A	12: 4,974,094	S73N	probably benign	Het
Atp11a	T	C	8: 12,846,154	L788P	probably damaging	Het
B3gnt8	T	C	7: 25,628,763	F206S	probably damaging	Het
Baz2b	T	C	2: 59,968,733	E349G	probably benign	Het
Bmp2k	A	T	5: 97,061,402		probably benign	Het
Camta2	A	G	11: 70,683,308	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,489,637	Q30L	possibly damaging	Het
Cdh1	T	C	8: 106,666,266	M794T	probably benign	Het
Cdh5	A	G	8: 104,131,091	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,348,812	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,283,632	S156P	probably damaging	Het
Col10a1	G	T	10: 34,394,649	G206C	probably damaging	Het
Col4a2	T	C	8: 11,313,509		probably null	Het
Copg2	A	G	6: 30,812,842	M517T	probably benign	Het
Cyp2f2	T	A	7: 27,132,562	L414Q	probably damaging	Het
Dact1	G	A	12: 71,318,344	G596D	probably damaging	Het
Dcaf13	T	C	15: 39,118,899	C87R	probably damaging	Het
Dchs1	T	G	7: 105,757,627	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,711,019	M429V	probably benign	Het
Dppa2	G	A	16: 48,317,348	R231H	probably damaging	Het
Elavl4	T	C	4: 110,251,292	D78G	probably damaging	Het
Enthd1	T	C	15: 80,474,281	E346G	probably damaging	Het
Exoc3l	A	T	8: 105,293,618	I225N	probably damaging	Het
Fam208b	T	A	13: 3,581,759	N914I	probably damaging	Het
Fasn	C	T	11: 120,808,499		probably benign	Het
Fbxl7	G	A	15: 26,552,765	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,559,714		probably null	Het
Flnc	A	G	6: 29,455,185	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,466,164	V33G	probably damaging	Het
Foxn2	A	G	17: 88,486,805	E390G	possibly damaging	Het
Fry	C	T	5: 150,436,709	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Gabrd	T	C	4: 155,386,486	Y255C	probably damaging	Het
Garem1	A	T	18: 21,129,452	F768L	probably benign	Het
Gas2	T	A	7: 51,943,673	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,284,423		noncoding transcript	Het
Gm1979	A	T	5: 26,001,242	N113K	probably damaging	Het
Gm5751	T	A	X: 8,880,705	Y133*	probably null	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,984,699	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,429,492		probably benign	Het
Hhipl2	G	A	1: 183,436,344	S673N	probably benign	Het
Iffo2	T	A	4: 139,614,065	S417T	probably benign	Het
Itgb5	G	T	16: 33,865,560	R90L	possibly damaging	Het
Jade1	T	G	3: 41,613,213	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,413,068	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,704,504	H456L	probably benign	Het
Kif9	C	A	9: 110,517,633	T613K	probably benign	Het
Krt36	T	G	11: 100,103,030		probably benign	Het
Kyat3	A	T	3: 142,723,179	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,562,836	F568I	probably damaging	Het
Lpl	T	C	8: 68,902,291	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,553,707	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,567,568	N109I	probably benign	Het
Ltn1	A	G	16: 87,415,616	Y686H	probably damaging	Het
Mcoln2	A	C	3: 146,175,472	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,523,934	I103F	probably damaging	Het
Mtmr10	T	G	7: 64,337,466	S585A	probably benign	Het
Mx1	T	C	16: 97,455,637	N114S	possibly damaging	Het
Mysm1	A	T	4: 94,970,686	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,433,933	V15A	unknown	Het
Nlrp1a	T	A	11: 71,107,980		probably benign	Het
Nlrp1a	G	A	11: 71,122,747	T559I	possibly damaging	Het
Oas1f	A	G	5: 120,855,589	K288R	probably benign	Het
Olfr1494	T	A	19: 13,749,347	D80E	probably benign	Het
Olfr311	T	A	11: 58,841,431	C106S	probably benign	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,321,469	R301*	probably null	Het
Phf12	T	C	11: 78,024,954		probably benign	Het
Pik3c2a	C	T	7: 116,368,117	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,503,345	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060		probably benign	Het
Prg4	T	C	1: 150,452,009	D820G	probably benign	Het
Prmt9	C	T	8: 77,555,674	Q67*	probably null	Het
Prob1	T	C	18: 35,653,575	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,420,366	V188A	probably damaging	Het
Rassf1	T	A	9: 107,558,193	L260H	probably damaging	Het
Rbm5	T	A	9: 107,742,414	Q766L	probably damaging	Het
Rbms3	T	A	9: 116,822,868	Y137F	probably damaging	Het
Rccd1	T	C	7: 80,320,218		probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Setd4	T	A	16: 93,591,299	K100*	probably null	Het
Simc1	T	A	13: 54,524,639	C267S	probably benign	Het
Slc16a1	G	T	3: 104,650,939	A91S	probably benign	Het
Slc36a1	A	G	11: 55,220,453	N133S	probably benign	Het
Svil	C	T	18: 5,063,383	P885S	probably benign	Het
Svop	A	T	5: 114,060,056		probably null	Het
Taar7d	T	C	10: 24,027,576	Y119H	probably damaging	Het
Tgfb3	T	C	12: 86,062,044	T304A	probably benign	Het
Tmem94	C	A	11: 115,793,213	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,016,279		probably null	Het
Tns1	C	A	1: 73,953,634	M1I	probably null	Het
Trappc13	C	T	13: 104,169,819		probably null	Het
Trim72	T	C	7: 128,007,844	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,660,247	S647P	probably benign	Het
Tulp1	A	G	17: 28,356,367	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,181,312	T342M	possibly damaging	Het
Vit	T	A	17: 78,534,676	V15E	probably benign	Het
Vps13d	A	T	4: 145,155,003	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,298,780	V23A	probably damaging	Het
Zfp608	A	G	18: 54,898,576	I764T	probably benign	Het
Zfp94	T	C	7: 24,309,115	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,269,049	I1218F	probably damaging	Het

Other mutations in Abcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Abcc2	APN	19	43784202	missense	probably benign	0.39
IGL01611:Abcc2	APN	19	43826629	missense	probably damaging	1.00
IGL01800:Abcc2	APN	19	43784295	missense	possibly damaging	0.78
IGL02008:Abcc2	APN	19	43821750	splice site	probably benign
IGL02041:Abcc2	APN	19	43784235	missense	probably damaging	1.00
IGL02528:Abcc2	APN	19	43798504	missense	probably benign
IGL02950:Abcc2	APN	19	43825967	missense	possibly damaging	0.83
IGL03081:Abcc2	APN	19	43782402	utr 5 prime	probably benign
IGL03397:Abcc2	APN	19	43784304	missense	probably benign	0.00
loser	UTSW	19	43839411	utr 3 prime	probably benign
nelson	UTSW	19	43803739	missense	probably benign	0.07
Sore	UTSW	19	43798194	missense	probably benign	0.22
BB002:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
BB012:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
PIT4453001:Abcc2	UTSW	19	43803782	nonsense	probably null
PIT4519001:Abcc2	UTSW	19	43819397	missense	possibly damaging	0.81
R0197:Abcc2	UTSW	19	43826614	nonsense	probably null
R0326:Abcc2	UTSW	19	43825947	missense	possibly damaging	0.90
R0391:Abcc2	UTSW	19	43821605	splice site	probably benign
R0558:Abcc2	UTSW	19	43800724	missense	probably benign	0.00
R0577:Abcc2	UTSW	19	43819401	missense	probably damaging	1.00
R0787:Abcc2	UTSW	19	43798516	critical splice donor site	probably null
R1189:Abcc2	UTSW	19	43819413	missense	probably damaging	1.00
R1200:Abcc2	UTSW	19	43833987	missense	probably damaging	0.98
R1395:Abcc2	UTSW	19	43833940	missense	probably benign	0.22
R1606:Abcc2	UTSW	19	43836652	missense	probably damaging	1.00
R1775:Abcc2	UTSW	19	43798419	missense	possibly damaging	0.88
R1797:Abcc2	UTSW	19	43814786	missense	possibly damaging	0.81
R1797:Abcc2	UTSW	19	43833987	missense	probably damaging	0.98
R1882:Abcc2	UTSW	19	43798506	missense	probably benign	0.00
R1913:Abcc2	UTSW	19	43807244	missense	probably benign	0.10
R1986:Abcc2	UTSW	19	43829879	missense	probably damaging	1.00
R1991:Abcc2	UTSW	19	43807142	missense	probably damaging	1.00
R1992:Abcc2	UTSW	19	43807142	missense	probably damaging	1.00
R2006:Abcc2	UTSW	19	43805061	missense	probably damaging	1.00
R2057:Abcc2	UTSW	19	43818038	missense	probably damaging	1.00
R3709:Abcc2	UTSW	19	43798446	missense	possibly damaging	0.80
R3802:Abcc2	UTSW	19	43821626	missense	probably benign	0.01
R4010:Abcc2	UTSW	19	43829864	missense	possibly damaging	0.75
R4014:Abcc2	UTSW	19	43823120	missense	probably benign
R4064:Abcc2	UTSW	19	43804993	nonsense	probably null
R4296:Abcc2	UTSW	19	43823074	missense	probably damaging	1.00
R4296:Abcc2	UTSW	19	43823075	missense	probably damaging	1.00
R4363:Abcc2	UTSW	19	43799136	missense	possibly damaging	0.94
R4580:Abcc2	UTSW	19	43811119	missense	probably damaging	1.00
R4625:Abcc2	UTSW	19	43803739	missense	probably benign	0.07
R4631:Abcc2	UTSW	19	43814707	missense	possibly damaging	0.70
R4671:Abcc2	UTSW	19	43800718	missense	probably benign
R4715:Abcc2	UTSW	19	43816882	missense	possibly damaging	0.54
R4726:Abcc2	UTSW	19	43832114	missense	probably benign	0.23
R4760:Abcc2	UTSW	19	43810481	missense	probably benign	0.03
R4801:Abcc2	UTSW	19	43819361	missense	probably damaging	1.00
R4802:Abcc2	UTSW	19	43819361	missense	probably damaging	1.00
R4976:Abcc2	UTSW	19	43800635	missense	probably benign	0.34
R5143:Abcc2	UTSW	19	43821661	missense	probably benign	0.28
R5206:Abcc2	UTSW	19	43818150	missense	probably damaging	1.00
R5376:Abcc2	UTSW	19	43829900	missense	possibly damaging	0.76
R5478:Abcc2	UTSW	19	43839465	utr 3 prime	probably benign
R5700:Abcc2	UTSW	19	43798194	missense	probably benign	0.22
R5863:Abcc2	UTSW	19	43798136	missense	probably benign	0.00
R5928:Abcc2	UTSW	19	43819358	missense	probably damaging	1.00
R5955:Abcc2	UTSW	19	43813190	missense	probably damaging	0.98
R5983:Abcc2	UTSW	19	43819503	missense	probably benign
R6014:Abcc2	UTSW	19	43826735	missense	probably benign
R6419:Abcc2	UTSW	19	43837508	splice site	probably null
R6497:Abcc2	UTSW	19	43805105	missense	probably damaging	1.00
R6510:Abcc2	UTSW	19	43782206	splice site	probably null
R6614:Abcc2	UTSW	19	43819361	missense	probably benign	0.01
R6649:Abcc2	UTSW	19	43812502	missense	probably benign	0.05
R6653:Abcc2	UTSW	19	43812502	missense	probably benign	0.05
R6670:Abcc2	UTSW	19	43839411	utr 3 prime	probably benign
R6964:Abcc2	UTSW	19	43798076	missense	probably benign	0.12
R6989:Abcc2	UTSW	19	43832172	missense	probably damaging	1.00
R7015:Abcc2	UTSW	19	43798178	missense	probably benign	0.03
R7026:Abcc2	UTSW	19	43816953	missense	probably benign	0.00
R7026:Abcc2	UTSW	19	43830535	missense	probably benign	0.01
R7136:Abcc2	UTSW	19	43837460	missense	probably damaging	1.00
R7252:Abcc2	UTSW	19	43827949	missense	probably damaging	0.98
R7293:Abcc2	UTSW	19	43807053	missense	probably damaging	1.00
R7392:Abcc2	UTSW	19	43808687	missense	probably damaging	0.97
R7450:Abcc2	UTSW	19	43822039	missense	probably damaging	1.00
R7654:Abcc2	UTSW	19	43826593	missense	possibly damaging	0.87
R7787:Abcc2	UTSW	19	43784246	missense	probably damaging	1.00
R7815:Abcc2	UTSW	19	43830427	missense	probably benign	0.01
R7911:Abcc2	UTSW	19	43803670	missense	probably benign	0.00
R7919:Abcc2	UTSW	19	43816809	missense	probably damaging	1.00
R7925:Abcc2	UTSW	19	43807112	missense	probably benign	0.07
R7993:Abcc2	UTSW	19	43814792	missense	possibly damaging	0.71
R8097:Abcc2	UTSW	19	43816955	missense	probably benign	0.10
R8177:Abcc2	UTSW	19	43807080	missense	probably damaging	1.00
R8492:Abcc2	UTSW	19	43804971	missense	probably benign	0.07
R8693:Abcc2	UTSW	19	43822035	missense	probably benign	0.06
R8722:Abcc2	UTSW	19	43836613	missense	possibly damaging	0.89
R8734:Abcc2	UTSW	19	43782416	missense	probably damaging	1.00
R8774:Abcc2	UTSW	19	43799138	missense	probably damaging	0.99
R8774-TAIL:Abcc2	UTSW	19	43799138	missense	probably damaging	0.99
R8798:Abcc2	UTSW	19	43808666	missense	probably benign	0.01
R8889:Abcc2	UTSW	19	43807132	missense	possibly damaging	0.88
R8892:Abcc2	UTSW	19	43807132	missense	possibly damaging	0.88
R8936:Abcc2	UTSW	19	43808662	missense	probably benign	0.35
R9031:Abcc2	UTSW	19	43822027	missense	probably benign
R9116:Abcc2	UTSW	19	43804952	missense	probably benign	0.30
R9201:Abcc2	UTSW	19	43798441	missense	probably damaging	0.97
R9246:Abcc2	UTSW	19	43798443	missense	probably benign	0.01
R9345:Abcc2	UTSW	19	43819430	missense	probably damaging	0.97
R9487:Abcc2	UTSW	19	43818032	missense	probably damaging	1.00
X0025:Abcc2	UTSW	19	43832205	critical splice donor site	probably null
Z1177:Abcc2	UTSW	19	43803734	missense	probably benign	0.05
Z1177:Abcc2	UTSW	19	43803736	missense	probably benign	0.00
Z1177:Abcc2	UTSW	19	43823100	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTCAGCTCTGCCTGTTTC -3'
(R):5'- GCTCCGAGAATTGTACTTCAGAG -3'

Sequencing Primer
(F):5'- AGCTCTGCCTGTTTCCTTGGG -3'
(R):5'- AGAGAAGTGTCCCTGTTCTCCAC -3'

Posted On

2014-06-23