Mutagenetix > Incidental Mutation

Incidental Mutation 'R7528:Abcc4'

583150

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 #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118482692-118706219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118529905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 920 (E920G)

Ref Sequence

ENSEMBL: ENSMUSP00000042186 (fasta)

Gene Model

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

AlphaFold

E9Q236

Predicted Effect

probably damaging
Transcript: ENSMUST00000036554
AA Change: E920G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: E920G

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: E845G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: E845G

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	C	2: 155,557,146	N443H	probably damaging	Het
Adam3	C	A	8: 24,677,263	A71S	unknown	Het
Agpat3	A	G	10: 78,287,912	L38P	probably damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Amtn	C	A	5: 88,378,852		probably null	Het
App	T	G	16: 84,978,258	Y497S	possibly damaging	Het
Bphl	T	A	13: 34,060,490	Y197N	probably damaging	Het
Btrc	T	A	19: 45,503,086	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,279,958	N70T	probably benign	Het
Cd55b	T	C	1: 130,419,736	N113D	possibly damaging	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Dnah2	T	C	11: 69,500,796	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,178,965	V1579A	possibly damaging	Het
Dst	T	A	1: 34,294,522	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,120,108		probably benign	Het
Fbxw4	T	C	19: 45,660,010	E7G	unknown	Het
Fos	T	A	12: 85,475,658	C154S	probably damaging	Het
Foxh1	A	G	15: 76,669,311	V97A	probably benign	Het
Gmeb1	G	A	4: 132,232,050	T231I	possibly damaging	Het
Golga3	T	A	5: 110,212,232	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,354,032	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,813,024	D441G	probably damaging	Het
Hydin	G	A	8: 110,380,572	W460*	probably null	Het
Ifi204	T	C	1: 173,751,840	I480V	probably benign	Het
Impg2	T	C	16: 56,260,380	V849A	possibly damaging	Het
Kars	T	C	8: 112,011,234	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,967,517	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 142,201,482	C19R	unknown	Het
Macf1	G	A	4: 123,432,059	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,974,507	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,266,114	R129*	probably null	Het
Nsun4	G	T	4: 116,034,194	Y329*	probably null	Het
Olfr681	T	C	7: 105,121,864	Y136H	probably damaging	Het
Olfr728	A	G	14: 50,139,820	V273A	possibly damaging	Het
Pard3	G	A	8: 127,603,165	R1214H	probably damaging	Het
Phf20	T	A	2: 156,303,008	Y845*	probably null	Het
Pik3c2a	A	G	7: 116,394,239	I431T	probably damaging	Het
Plxna2	A	G	1: 194,812,156	S1894G	probably damaging	Het
Ppp1r7	C	T	1: 93,354,401	Q225*	probably null	Het
Ppp4r1	C	A	17: 65,813,498	T209K	probably damaging	Het
Prc1	T	C	7: 80,300,435		probably null	Het
Prex2	T	G	1: 11,204,092	D1329E	probably damaging	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Rab24	A	T	13: 55,321,108	C87S	probably damaging	Het
Rnf43	A	T	11: 87,732,128	Y558F	probably benign	Het
Serpinb6e	T	C	13: 33,832,491	I420V	possibly damaging	Het
Slain2	C	A	5: 72,914,800	S59*	probably null	Het
Slfn3	A	G	11: 83,214,905	D576G	probably benign	Het
Sptbn4	A	G	7: 27,442,535	M11T	probably benign	Het
Tdh	T	C	14: 63,494,011	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,649,851	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,659,764	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vps13d	T	C	4: 145,091,922	E3125G		Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp142	T	C	1: 74,570,902	T1245A	probably benign	Het
Zfp960	C	T	17: 17,087,563	H180Y	possibly 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	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
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'- TTCAGATCCTAAGAGCAGAGGC -3'
(R):5'- CTTACTGTGGAGCATGGGAG -3'

Sequencing Primer
(F):5'- CAGGAGACAGGAGTCCAAGTAC -3'
(R):5'- AGTCCACGAGTCCAGCCTC -3'

Posted On

2019-10-17