Mutagenetix > Incidental Mutation

Incidental Mutation 'R8044:Abcc4'

618683

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

Accession Numbers

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8044 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

118482692-118706219 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACCAGCCC to ACC at 118615270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042186 (fasta)

Gene Model

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

AlphaFold

E9Q236

Predicted Effect

probably null
Transcript: ENSMUST00000036554

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849

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 null
Transcript: ENSMUST00000166646

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	T	C	8: 85,412,118	E114G	possibly damaging	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Asb7	T	C	7: 66,659,763	N235S	probably benign	Het
Atrn	A	T	2: 130,935,529	N166I	probably damaging	Het
C87499	T	G	4: 88,629,975	E64D	possibly damaging	Het
Cd300ld2	C	T	11: 115,013,719	W107*	probably null	Het
Chl1	A	T	6: 103,706,632	E806D	probably damaging	Het
Dnajb12	A	G	10: 59,896,350	K337R	possibly damaging	Het
Dock5	T	C	14: 67,824,692	D409G	probably damaging	Het
Efhb	G	A	17: 53,399,115	S798L	probably benign	Het
Gpd1	T	C	15: 99,723,202	F322S	probably damaging	Het
Gria4	A	G	9: 4,456,216	Y695H	probably damaging	Het
Ipo8	A	G	6: 148,809,923	F289S	probably damaging	Het
Jakmip1	A	G	5: 37,154,644	E72G	unknown	Het
Mettl14	T	C	3: 123,369,660	N366S	probably benign	Het
Ntrk2	A	G	13: 59,126,499	T730A	probably damaging	Het
Olfr1453	T	C	19: 13,027,465	Y288C	probably damaging	Het
Otop3	T	C	11: 115,346,435	L575P	probably damaging	Het
Piwil2	T	C	14: 70,391,438	S710G	possibly damaging	Het
Ptpra	A	G	2: 130,544,961	K627E	possibly damaging	Het
Rab24	A	G	13: 55,321,532		probably benign	Het
Rbm20	C	A	19: 53,817,971	A494D	probably benign	Het
Rpe65	T	C	3: 159,614,705	F300L	probably benign	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tert	A	G	13: 73,635,449	E590G	probably damaging	Het
Tlr4	C	A	4: 66,827,847	L6I	probably benign	Het
Trim3	G	A	7: 105,613,258		silent	Het
Tubg1	G	T	11: 101,124,028	A199S	probably benign	Het
Ube3a	A	T	7: 59,276,572	H387L	possibly damaging	Het
Ugt1a7c	G	A	1: 88,095,556	V146M	probably damaging	Het
Upf2	T	C	2: 6,029,438	I974T	unknown	Het
Vmn1r38	A	T	6: 66,776,532	I200N	probably benign	Het
Wnt5b	A	G	6: 119,446,358	V115A	probably damaging	Het
Xpo7	C	A	14: 70,684,926	R574L	probably benign	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	118611456	missense	probably damaging	0.98
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
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'- GAGTATCATGACTTAGAGAACGCC -3'
(R):5'- AGCTGCAGCATCTAGTGACC -3'

Sequencing Primer
(F):5'- AAGGCGGGCGTTTACAC -3'
(R):5'- GCAGCATCTAGTGACCTTTTATATG -3'

Posted On

2020-01-23