Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Abcc4'

574292

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

045484-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118720104-118943631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118943487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 12 (P12Q)

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: P12Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: P12Q

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: P12Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: P12Q

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: 99.8%
20x: 99.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,666,845 (GRCm39)	D464G	possibly damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctif	A	G	18: 75,744,807 (GRCm39)	I99T	probably benign	Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Itga6	A	T	2: 71,683,897 (GRCm39)	N1045I	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,455,042 (GRCm39)	M1I	probably null	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rpap2	T	A	5: 107,768,324 (GRCm39)	Y387*	probably null	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	possibly 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
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
R7989:Abcc4	UTSW	14	118,836,772 (GRCm39)	missense	probably benign	0.05
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'- CGGAGTGTAAGGCTGTGCAG -3'
(R):5'- AACGGGTCTCAAGCACGTG -3'

Sequencing Primer
(F):5'- TGTGCAGGAAACGCATCC -3'
(R):5'- TTCTCCCAGGCTCGAGGAG -3'

Posted On

2019-09-13