Mutagenetix > Incidental Mutation

Incidental Mutation 'R7989:Abcc4'

651652

Institutional Source

Beutler Lab

Gene Symbol

Abcc4

Ensembl Gene

ENSMUSG00000032849

Gene Name

ATP-binding cassette, sub-family C member 4

Synonyms

MOAT-B, MRP4, D630049P08Rik

MMRRC Submission

046030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118720104-118943631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118836772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 663 (Q663R)

Ref Sequence

ENSEMBL: ENSMUSP00000042186 (fasta)

Gene Model

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

AlphaFold

E9Q236

Predicted Effect

probably benign
Transcript: ENSMUST00000036554
AA Change: Q663R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: Q663R

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 benign
Transcript: ENSMUST00000166646
AA Change: Q588R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: Q588R

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: 98.6%

Validation Efficiency

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
Abcb5	T	A	12: 118,875,278 (GRCm39)	E631D	probably benign	Het
Abcc12	T	C	8: 87,232,108 (GRCm39)	T1317A	probably benign	Het
Arhgef28	G	A	13: 98,036,243 (GRCm39)	T1672I	probably benign	Het
Dnah3	A	T	7: 119,677,012 (GRCm39)	D496E	probably benign	Het
Dse	A	T	10: 34,029,454 (GRCm39)	Y545*	probably null	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fam124b	A	T	1: 80,191,311 (GRCm39)	L24Q	probably damaging	Het
Fam180a	A	T	6: 35,292,273 (GRCm39)	N44K	probably damaging	Het
Gabrg3	G	T	7: 56,374,389 (GRCm39)	N392K	possibly damaging	Het
Gprin2	G	A	14: 33,916,661 (GRCm39)	R370*	probably null	Het
Grhpr	C	T	4: 44,989,008 (GRCm39)	P275S	probably damaging	Het
Hsf5	A	G	11: 87,526,450 (GRCm39)	Q374R	probably benign	Het
Igtp	A	C	11: 58,097,205 (GRCm39)	K125N	probably damaging	Het
Il17a	T	C	1: 20,802,438 (GRCm39)	V49A	possibly damaging	Het
Klhl12	T	C	1: 134,417,143 (GRCm39)	S552P	probably benign	Het
Or4c15	T	C	2: 88,759,858 (GRCm39)	D267G	probably damaging	Het
Or5d45	T	A	2: 88,153,164 (GRCm39)	N295I	probably damaging	Het
Pkd2l1	A	T	19: 44,142,507 (GRCm39)	C512S	probably benign	Het
Plekha7	G	A	7: 115,757,558 (GRCm39)	P464L	probably benign	Het
Plk5	A	G	10: 80,199,899 (GRCm39)	R469G	probably benign	Het
Pphln1	C	A	15: 93,386,960 (GRCm39)	H353N	possibly damaging	Het
Prkaa1	A	G	15: 5,206,166 (GRCm39)	N341D	probably damaging	Het
Skp2	C	T	15: 9,127,979 (GRCm39)	R129H	probably benign	Het
Slc5a6	A	G	5: 31,199,480 (GRCm39)		probably null	Het
Spata31d1b	C	T	13: 59,866,182 (GRCm39)	P1110L	possibly damaging	Het
Speer4a2	A	T	5: 26,290,643 (GRCm39)	L176Q	probably damaging	Het
Srgap2	A	G	1: 131,226,170 (GRCm39)	S368P		Het
Tiam2	G	T	17: 3,568,524 (GRCm39)	E1557*	probably null	Het
Tmem200a	C	A	10: 25,869,955 (GRCm39)	V105F	probably benign	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Trio	A	G	15: 27,773,021 (GRCm39)	L1881P	probably damaging	Het
Unc13a	G	A	8: 72,104,917 (GRCm39)	R782W	probably damaging	Het
Usp32	A	T	11: 84,925,126 (GRCm39)	M117K		Het
Zfp655	T	A	5: 145,181,380 (GRCm39)	C413S	probably damaging	Het

Other mutations in Abcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Abcc4	APN	14	118,766,409 (GRCm39)	missense	probably benign	0.03
IGL01152:Abcc4	APN	14	118,836,797 (GRCm39)	missense	probably damaging	1.00
IGL01511:Abcc4	APN	14	118,836,753 (GRCm39)	missense	probably benign	0.03
IGL01604:Abcc4	APN	14	118,765,406 (GRCm39)	missense	possibly damaging	0.94
IGL01725:Abcc4	APN	14	118,738,241 (GRCm39)	missense	probably damaging	1.00
IGL01828:Abcc4	APN	14	118,790,691 (GRCm39)	splice site	probably benign
IGL02174:Abcc4	APN	14	118,738,154 (GRCm39)	missense	probably damaging	0.98
IGL02391:Abcc4	APN	14	118,790,764 (GRCm39)	missense	probably damaging	1.00
IGL02500:Abcc4	APN	14	118,856,338 (GRCm39)	missense	possibly damaging	0.47
IGL02598:Abcc4	APN	14	118,905,781 (GRCm39)	nonsense	probably null
IGL02668:Abcc4	APN	14	118,848,887 (GRCm39)	missense	probably damaging	1.00
IGL02708:Abcc4	APN	14	118,738,213 (GRCm39)	missense	probably damaging	1.00
IGL02859:Abcc4	APN	14	118,753,912 (GRCm39)	missense	probably damaging	1.00
IGL03249:Abcc4	APN	14	118,865,118 (GRCm39)	splice site	probably benign
IGL03257:Abcc4	APN	14	118,852,623 (GRCm39)	missense	probably benign	0.01
IGL03298:Abcc4	APN	14	118,848,880 (GRCm39)	missense	probably damaging	1.00
1mM(1):Abcc4	UTSW	14	118,867,068 (GRCm39)	nonsense	probably null
R0743:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R0884:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R1139:Abcc4	UTSW	14	118,738,252 (GRCm39)	missense	possibly damaging	0.56
R1238:Abcc4	UTSW	14	118,835,051 (GRCm39)	splice site	probably benign
R1588:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R1678:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R1785:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1786:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1961:Abcc4	UTSW	14	118,848,871 (GRCm39)	missense	possibly damaging	0.92
R1961:Abcc4	UTSW	14	118,848,868 (GRCm39)	missense	probably damaging	0.98
R1993:Abcc4	UTSW	14	118,763,694 (GRCm39)	missense	probably benign	0.02
R2025:Abcc4	UTSW	14	118,790,737 (GRCm39)	missense	probably benign	0.13
R3613:Abcc4	UTSW	14	118,864,863 (GRCm39)	critical splice donor site	probably null
R3864:Abcc4	UTSW	14	118,853,827 (GRCm39)	missense	probably benign
R4274:Abcc4	UTSW	14	118,867,034 (GRCm39)	missense	probably damaging	1.00
R4459:Abcc4	UTSW	14	118,836,805 (GRCm39)	missense	probably benign	0.11
R4601:Abcc4	UTSW	14	118,869,575 (GRCm39)	missense	probably benign	0.00
R4665:Abcc4	UTSW	14	118,766,414 (GRCm39)	missense	probably benign
R4678:Abcc4	UTSW	14	118,865,103 (GRCm39)	missense	probably damaging	0.97
R4771:Abcc4	UTSW	14	118,721,796 (GRCm39)	missense	probably benign	0.00
R4962:Abcc4	UTSW	14	118,905,811 (GRCm39)	missense	probably benign	0.33
R4997:Abcc4	UTSW	14	118,753,915 (GRCm39)	nonsense	probably null
R5273:Abcc4	UTSW	14	118,832,233 (GRCm39)	missense	possibly damaging	0.76
R5526:Abcc4	UTSW	14	118,868,449 (GRCm39)	missense	probably benign	0.10
R5652:Abcc4	UTSW	14	118,856,339 (GRCm39)	missense	probably benign	0.00
R5820:Abcc4	UTSW	14	118,841,607 (GRCm39)	missense	probably benign	0.14
R5873:Abcc4	UTSW	14	118,763,702 (GRCm39)	missense	probably benign	0.00
R6008:Abcc4	UTSW	14	118,727,978 (GRCm39)	missense	possibly damaging	0.63
R6080:Abcc4	UTSW	14	118,906,462 (GRCm39)	missense	possibly damaging	0.75
R6222:Abcc4	UTSW	14	118,767,368 (GRCm39)	missense	probably damaging	1.00
R6919:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R6931:Abcc4	UTSW	14	118,765,400 (GRCm39)	missense	probably damaging	0.99
R7013:Abcc4	UTSW	14	118,763,755 (GRCm39)	missense	probably benign
R7055:Abcc4	UTSW	14	118,832,197 (GRCm39)	nonsense	probably null
R7146:Abcc4	UTSW	14	118,852,593 (GRCm39)	missense	probably damaging	1.00
R7365:Abcc4	UTSW	14	118,865,066 (GRCm39)	missense	probably damaging	1.00
R7402:Abcc4	UTSW	14	118,943,487 (GRCm39)	missense	probably damaging	1.00
R7438:Abcc4	UTSW	14	118,853,858 (GRCm39)	missense	probably benign	0.01
R7528:Abcc4	UTSW	14	118,767,317 (GRCm39)	missense	probably damaging	0.99
R7674:Abcc4	UTSW	14	118,848,899 (GRCm39)	missense	probably damaging	1.00
R7769:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R7823:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R7847:Abcc4	UTSW	14	118,864,892 (GRCm39)	missense	probably damaging	1.00
R8044:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R8214:Abcc4	UTSW	14	118,738,253 (GRCm39)	missense	probably benign	0.35
R8264:Abcc4	UTSW	14	118,832,254 (GRCm39)	missense	possibly damaging	0.81
R8309:Abcc4	UTSW	14	118,853,804 (GRCm39)	missense	probably damaging	1.00
R8369:Abcc4	UTSW	14	118,864,869 (GRCm39)	missense	probably benign	0.02
R8701:Abcc4	UTSW	14	118,836,785 (GRCm39)	missense	probably benign
R8942:Abcc4	UTSW	14	118,790,732 (GRCm39)	missense	probably damaging	1.00
R8994:Abcc4	UTSW	14	118,771,556 (GRCm39)	critical splice acceptor site	probably null
R9008:Abcc4	UTSW	14	118,849,162 (GRCm39)	missense	probably damaging	0.98
R9100:Abcc4	UTSW	14	118,853,800 (GRCm39)	missense	possibly damaging	0.65
R9119:Abcc4	UTSW	14	118,868,442 (GRCm39)	missense	probably benign	0.16
R9267:Abcc4	UTSW	14	118,869,657 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAACACCTTAGAGTCGCAGG -3'
(R):5'- TGAAGACCAGTTGGCTTTAGC -3'

Sequencing Primer
(F):5'- TTAGAGTCGCAGGTCCAACTC -3'
(R):5'- GCCTCTAAAATTCCTTTTGTTTTAGG -3'

Posted On

2020-09-15