Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Abcc4'

317966

Institutional Source

Beutler Lab

Gene Symbol

Abcc4

Ensembl Gene

ENSMUSG00000032849

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 4

Synonyms

MRP4, D630049P08Rik, MOAT-B

MMRRC Submission

039975-MU

Accession Numbers

Genbank: NM_001033336.3, NM_001163675.1, NM_001163676.1; Ensembl: ENSMUST00000036554

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1961 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

118482692-118706219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118611456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 495 (G495C)

Ref Sequence

ENSEMBL: ENSMUSP00000129677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]

AlphaFold

E9Q236

Predicted Effect

probably damaging
Transcript: ENSMUST00000036554
AA Change: G570C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: G570C

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	92	365	4.5e-37	PFAM
AAA	437	610	5.71e-12	SMART
Pfam:ABC_membrane	714	993	4.2e-47	PFAM
AAA	1067	1251	2.02e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166646
AA Change: G495C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: G495C

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	98	290	4.1e-22	PFAM
AAA	362	535	5.71e-12	SMART
Pfam:ABC_membrane	638	922	4.6e-39	PFAM
AAA	992	1176	2.02e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228848

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]

Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
3110001I22Rik	T	A	16: 13,677,728	H230Q	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Acsm4	T	C	7: 119,708,740	Y367H	probably benign	Het
Adam21	A	T	12: 81,559,508	Y493*	probably null	Het
Add2	T	C	6: 86,096,756	F209S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Aff4	T	G	11: 53,372,999	L282R	probably damaging	Het
Akt3	A	G	1: 177,096,995	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,041,015	Y174C	probably damaging	Het
Atl1	A	G	12: 69,953,500	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,644,525		probably null	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,630,322	I1366N	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc167	T	C	17: 29,704,431	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,313,646		probably benign	Het
Cenpe	A	G	3: 135,242,493	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Exog	A	G	9: 119,452,266	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,590,334	W30R	probably benign	Het
Fam172a	C	A	13: 77,902,720	H50N	probably benign	Het
Fndc3b	G	A	3: 27,456,451	Q841*	probably null	Het
Frzb	T	A	2: 80,424,601	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gabrb1	G	A	5: 71,700,336	R43Q	probably benign	Het
Gm21060	A	T	19: 61,297,007	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Gm5581	A	C	6: 131,168,162		noncoding transcript	Het
Gm9894	T	C	13: 67,763,915		noncoding transcript	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546		probably benign	Het
Grid2	T	C	6: 63,908,893	L91S	probably damaging	Het
Igsf5	A	C	16: 96,378,351	T215P	probably damaging	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Kifc2	T	A	15: 76,662,825	L226H	probably damaging	Het
Klf10	T	C	15: 38,295,996	H435R	probably damaging	Het
Masp1	T	C	16: 23,452,932	Y623C	probably damaging	Het
Megf10	T	A	18: 57,212,354	C118S	probably damaging	Het
Mical3	A	G	6: 120,982,607	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,398,475		probably null	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nmi	A	T	2: 51,948,620	S301T	probably benign	Het
Nr2f2	G	T	7: 70,358,155	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,197,098	N404S	probably damaging	Het
Olfr54	T	G	11: 51,027,475	S158A	probably benign	Het
Olfr594	T	C	7: 103,219,997	V93A	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Otoa	T	A	7: 121,118,569	D336E	probably benign	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,061,505	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Plekhg4	A	G	8: 105,381,464	E982G	probably damaging	Het
Pmfbp1	T	G	8: 109,530,144		probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rab11fip5	C	A	6: 85,348,991	Q144H	possibly damaging	Het
Reep3	A	T	10: 67,039,499		probably null	Het
Rgl2	T	C	17: 33,933,615	L400P	probably damaging	Het
Rnf122	A	G	8: 31,124,846		probably benign	Het
Scgb1b21	G	T	7: 33,527,378		noncoding transcript	Het
Sec63	A	T	10: 42,823,886	K647N	probably damaging	Het
Sema4a	C	T	3: 88,438,176		probably benign	Het
Serpinf1	C	T	11: 75,416,419	V31I	probably benign	Het
Sez6l	C	T	5: 112,424,615		probably benign	Het
Shank3	T	C	15: 89,557,964	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,022,798	T166M	probably benign	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc38a11	A	T	2: 65,330,339	F304I	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Slx4ip	A	G	2: 137,067,681	T129A	probably benign	Het
Spop	T	C	11: 95,491,711	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,358,880	D147E	probably benign	Het
Tnpo1	T	C	13: 98,852,932	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttc27	T	A	17: 74,780,856	M472K	probably damaging	Het
Ttll7	A	G	3: 146,915,795		probably benign	Het
Ttn	A	T	2: 76,721,760	C22851S	probably benign	Het
Ttn	T	A	2: 76,798,212	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,640,262	T54A	probably benign	Het
Usp33	T	C	3: 152,380,628	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,481,071	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,798,095	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,602,191		probably null	Het
Wnk1	T	C	6: 119,969,247	I648M	probably damaging	Het

Other mutations in Abcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Abcc4	APN	14	118528997	missense	probably benign	0.03
IGL01152:Abcc4	APN	14	118599385	missense	probably damaging	1.00
IGL01511:Abcc4	APN	14	118599341	missense	probably benign	0.03
IGL01604:Abcc4	APN	14	118527994	missense	possibly damaging	0.94
IGL01725:Abcc4	APN	14	118500829	missense	probably damaging	1.00
IGL01828:Abcc4	APN	14	118553279	splice site	probably benign
IGL02174:Abcc4	APN	14	118500742	missense	probably damaging	0.98
IGL02391:Abcc4	APN	14	118553352	missense	probably damaging	1.00
IGL02500:Abcc4	APN	14	118618926	missense	possibly damaging	0.47
IGL02598:Abcc4	APN	14	118668369	nonsense	probably null
IGL02668:Abcc4	APN	14	118611475	missense	probably damaging	1.00
IGL02708:Abcc4	APN	14	118500801	missense	probably damaging	1.00
IGL02859:Abcc4	APN	14	118516500	missense	probably damaging	1.00
IGL03249:Abcc4	APN	14	118627706	splice site	probably benign
IGL03257:Abcc4	APN	14	118615211	missense	probably benign	0.01
IGL03298:Abcc4	APN	14	118611468	missense	probably damaging	1.00
1mM(1):Abcc4	UTSW	14	118629656	nonsense	probably null
R0743:Abcc4	UTSW	14	118553288	missense	possibly damaging	0.90
R0884:Abcc4	UTSW	14	118553288	missense	possibly damaging	0.90
R1139:Abcc4	UTSW	14	118500840	missense	possibly damaging	0.56
R1238:Abcc4	UTSW	14	118597639	splice site	probably benign
R1588:Abcc4	UTSW	14	118534072	missense	probably benign	0.01
R1678:Abcc4	UTSW	14	118594894	missense	probably benign	0.08
R1785:Abcc4	UTSW	14	118553349	missense	probably damaging	0.99
R1786:Abcc4	UTSW	14	118553349	missense	probably damaging	0.99
R1961:Abcc4	UTSW	14	118611459	missense	possibly damaging	0.92
R1993:Abcc4	UTSW	14	118526282	missense	probably benign	0.02
R2025:Abcc4	UTSW	14	118553325	missense	probably benign	0.13
R3613:Abcc4	UTSW	14	118627451	critical splice donor site	probably null
R3864:Abcc4	UTSW	14	118616415	missense	probably benign
R4274:Abcc4	UTSW	14	118629622	missense	probably damaging	1.00
R4459:Abcc4	UTSW	14	118599393	missense	probably benign	0.11
R4601:Abcc4	UTSW	14	118632163	missense	probably benign	0.00
R4665:Abcc4	UTSW	14	118529002	missense	probably benign
R4678:Abcc4	UTSW	14	118627691	missense	probably damaging	0.97
R4771:Abcc4	UTSW	14	118484384	missense	probably benign	0.00
R4962:Abcc4	UTSW	14	118668399	missense	probably benign	0.33
R4997:Abcc4	UTSW	14	118516503	nonsense	probably null
R5273:Abcc4	UTSW	14	118594821	missense	possibly damaging	0.76
R5526:Abcc4	UTSW	14	118631037	missense	probably benign	0.10
R5652:Abcc4	UTSW	14	118618927	missense	probably benign	0.00
R5820:Abcc4	UTSW	14	118604195	missense	probably benign	0.14
R5873:Abcc4	UTSW	14	118526290	missense	probably benign	0.00
R6008:Abcc4	UTSW	14	118490566	missense	possibly damaging	0.63
R6080:Abcc4	UTSW	14	118669050	missense	possibly damaging	0.75
R6222:Abcc4	UTSW	14	118529956	missense	probably damaging	1.00
R6919:Abcc4	UTSW	14	118594894	missense	probably benign	0.08
R6931:Abcc4	UTSW	14	118527988	missense	probably damaging	0.99
R7013:Abcc4	UTSW	14	118526343	missense	probably benign
R7055:Abcc4	UTSW	14	118594785	nonsense	probably null
R7146:Abcc4	UTSW	14	118615181	missense	probably damaging	1.00
R7365:Abcc4	UTSW	14	118627654	missense	probably damaging	1.00
R7402:Abcc4	UTSW	14	118706075	missense	probably damaging	1.00
R7438:Abcc4	UTSW	14	118616446	missense	probably benign	0.01
R7528:Abcc4	UTSW	14	118529905	missense	probably damaging	0.99
R7674:Abcc4	UTSW	14	118611487	missense	probably damaging	1.00
R7769:Abcc4	UTSW	14	118615270	frame shift	probably null
R7823:Abcc4	UTSW	14	118534072	missense	probably benign	0.01
R7847:Abcc4	UTSW	14	118627480	missense	probably damaging	1.00
R7989:Abcc4	UTSW	14	118599360	missense	probably benign	0.05
R8044:Abcc4	UTSW	14	118615270	frame shift	probably null
R8214:Abcc4	UTSW	14	118500841	missense	probably benign	0.35
R8264:Abcc4	UTSW	14	118594842	missense	possibly damaging	0.81
R8309:Abcc4	UTSW	14	118616392	missense	probably damaging	1.00
R8369:Abcc4	UTSW	14	118627457	missense	probably benign	0.02
R8701:Abcc4	UTSW	14	118599373	missense	probably benign
R8942:Abcc4	UTSW	14	118553320	missense	probably damaging	1.00
R8994:Abcc4	UTSW	14	118534144	critical splice acceptor site	probably null
R9008:Abcc4	UTSW	14	118611750	missense	probably damaging	0.98
R9100:Abcc4	UTSW	14	118616388	missense	possibly damaging	0.65
R9119:Abcc4	UTSW	14	118631030	missense	probably benign	0.16
R9267:Abcc4	UTSW	14	118632245	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACGTGCCTTCTGTTCTTAAAC -3'
(R):5'- GCCGCGGATACTTCAAATG -3'

Sequencing Primer
(F):5'- AAACTCTAACACTCGGGCTCTGTG -3'
(R):5'- TGAACACCCAGTTGCCATGAG -3'

Posted On

2015-05-19